Materiały źródłowe

• #1 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #2 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  The incidence of pheochromocytoma is 2 to 8 per million persons per year. Pheochromocytoma is present in 0.1% to 1% of patients with hypertension, and it is present in approximately 5% of patients with incidentally discovered adrenal masses. The peak incidence occurs in the third to fifth decades of life. The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. The incidence is equal between men and women. […] Of all pheochromocytomas and extra-adrenal paragangliomas, 35% occur in patients with a hereditary cancer syndrome. It has been proposed that all patients diagnosed with a pheochromocytoma or paraganglioma should consider genetic testing because the incidence of a hereditary syndrome in apparently sporadic cases is as high as 25%. Early identification of a hereditary syndrome allows for early screening for other associated tumors and identification of family members who are at risk.

• #2 Phaeochromocytoma (Investigations and Treatment)

  https://patient.info/doctor/phaeochromocytoma-pro

  Phaeochromocytomas are rare tumours, with an annual incidence of 2 to 9.1 per 1 million adults and may correspond up to 60% of all adrenal incidentalomas (epinephromas). […] The majority are benign but up to 25% may be malignant. […] Males and females are affected equally. […] Phaeochromocytomas can appear in any age, however, more commonly in the 3rd to 5th decade of life. […] Hereditary disease is more likely to present in younger patients. […] In children presenting with apparently sporadic phaeochromocytomas, up to 70% of cases are due to hereditary disease. […] Phaeochromocytomas are responsible for 0.20.6 of both systolic and diastolic hypertensions and rarely in isolated cases of systolic hypertension. […] However, about 50% of phaeochromocytomas are diagnosed only at autopsy because many of these tumours remain clinically silent during life.

• #3 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  The incidence of pheochromocytoma ranges 0.2-0.8 per 100,000 persons. The median age at diagnosis is 24.9 years in familial cases and 43.9 years in sporadic cases. Both men and women are affected equally by pheochromocytoma. […] In the USA, the incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] Annually reported cases range from 500 to 1600 in the United States. […] Autopsy studies have discovered a higher number of cases than the actual prevalence rates. Ten percent of pheochromocytomas cases are discovered by chance. […] In the USA, the prevalence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] The prevalence of pheochromocytoma in patients with hypertension in general outpatient clinics is about 0.1%. […] The prevalence of pheochromocytoma is approximately 1.7% in children with hypertension.

• #4 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas are rare, reportedly occurring in 0.050.2% of hypertensive individuals. This accounts for only a portion of cases, however, as patients may be completely asymptomatic. A retrospective study from the Mayo Clinic revealed that in 50% of cases of pheochromocytoma, the diagnosis was made at autopsy. Approximately 10% of pheochromocytomas are discovered incidentally. […] […] A Dutch study, by Berends et al, found an increase in the age-standardized incidence rate (ASR) of pheochromocytomas and sympathetic paragangliomas in the Netherlands between 1995 and 2015. The investigators reported that the ASR between 1995 and 1999 was 0.29 per 100,000 person-years, compared with 0.46 per 100,000 person-years between 2011 and 2015. The ASRs for sympathetic paragangliomas rose between these same two periods from 0.08 to 0.11 per 100,000 person-years. There was also a trend during this 20-year period towards patients being older and tumor size smaller at diagnosis. The investigators suggested that clinical practice changes, along with greater use of imaging and biochemical studies, were at least partially responsible for the incidence increases. […]

• #5 Epidemiology and Prognosis of Pheochromocytoma/Paraganglioma in Korea: A Nationwide Study Based on the National Health Insurance Service

  https://www.e-enm.org/journal/view.php?doi=10.3803/enm.2020.35.1.157

  Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors originating from chromaffin cells. […] This study aimed to investigate the epidemiology and prognosis of PPGLs in Korea using nationwide data. […] The overall prevalence of PPGLs was 2.13 per 100,000 persons, and the overall age-standardized incidence rate was 0.18 per 100,000 person-years. […] This was the first nationwide population-based epidemiological study of PPGLs to be conducted in Asia, using NHIS data from Korea. […] The present study demonstrated a high incidence of metastatic PPGLs in all study subjects (17.8%), which is similar to the rates reported in previous studies (8% to 20%). […] Collectively, the prevalence and annual incidence rates of PPGLs in Korea are 0.18 and 2.13 per 100,000 persons, respectively.

• #6 OAR@UM: Epidemiology of PPGLs : a population based approach

  https://www.um.edu.mt/library/oar/handle/123456789/89245

  Phaeochromocytoma/paragangliomas (PPGLs) are relatively rare tumours and the health burden of such tumours is not very well known. […] This population based study aims to characterise all the phaeochromocytomas, paragangliomas and adrenal medullary hyperplasia diagnosed between 2007 and 2016 in Malta; looking into presentation, hormonal analysis, imaging characteristics and histology findings. […] The standardised incidence rate is 4.3/1,000,000/year. […] The high risk of malignancy found in our cohort emphasizes the need for long term follow up.

• #7 Pheochromocytoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK589700/

  Similar to many secondary causes of hypertension, pheochromocytomas are often underdiagnosed. An autopsy study revealed undiagnosed pheochromocytomas in 0.05% of individuals. In a single-center study of 4180 patients in Brooklyn, pheochromocytomas were identified in 0.2% of those with hypertension, resulting in an average annual incidence rate of 0.5 cases per 100,000 person-years. […] In the past, pheochromocytomas were primarily identified during evaluations for secondary hypertension. However, they are now increasingly found as incidental findings on abdominal imaging conducted for other conditions or through surveillance screening in individuals with known genetic disorders. […] Annual screening with plasma or urinary metanephrines is recommended for genetic carriers to facilitate early detection of disease.

• #8 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas are rare, reportedly occurring in 0.050.2% of hypertensive individuals. This accounts for only a portion of cases, however, as patients may be completely asymptomatic. A retrospective study from the Mayo Clinic revealed that in 50% of cases of pheochromocytoma, the diagnosis was made at autopsy. Approximately 10% of pheochromocytomas are discovered incidentally. […] […] A Dutch study, by Berends et al, found an increase in the age-standardized incidence rate (ASR) of pheochromocytomas and sympathetic paragangliomas in the Netherlands between 1995 and 2015. The investigators reported that the ASR between 1995 and 1999 was 0.29 per 100,000 person-years, compared with 0.46 per 100,000 person-years between 2011 and 2015. The ASRs for sympathetic paragangliomas rose between these same two periods from 0.08 to 0.11 per 100,000 person-years. There was also a trend during this 20-year period towards patients being older and tumor size smaller at diagnosis. The investigators suggested that clinical practice changes, along with greater use of imaging and biochemical studies, were at least partially responsible for the incidence increases. […]

• #9 Pheochromocytoma – Wikipedia

  https://en.wikipedia.org/wiki/Pheochromocytoma

  According to the North American Neuroendocrine Tumor Society, the prevalence of pheochromocytoma is between 1:2,500 and 1:6,500, meaning that for every 2,500-6,500 people, there is (on average) one person with pheochromocytoma. In the United States, this equates to an annual incidence (new cases per year) of 500 to 1,600 cases. However, approximations in the early 2000s reported that upwards of 50% of pheochromocytoma diagnoses are at autopsy; therefore, the above estimations may be lower than expected. In a 50-year autopsy case series, the Mayo Clinic reviewed 54 pheochromocytoma cases between 1928-1977 and discovered that just 24% of the patients were correctly diagnosed prior to their death. […] Outside of the United States, several countries have documented their own epidemiological studies and compared them to what is known in North America. In the first national, epidemiological population-based study in Asia utilizing Korean National Health Insurance Service data, the prevalence of a pheochromocytoma was reported at 2.13 per 100,000 persons with an incidence of 0.18 per 100,000 person-years. This is lower than the occurrence reported from Rochester, Minnesota (0.8 per 100,000 person-years), in a study conducted from 1950 to 1979. However, the Netherlands also conducted a study using a nationwide registry and reported incidence results of 0.57 per 100,000 person-years from 2011 to 2015, which was a significant increase from their 0.37 cases per 100,000 person-years reported from 1995 to 1999. Current hypotheses for why the incidence of pheochromocytoma is growing in the Dutch population point to the advent of modern imaging evaluation and the ability to detect these tumors prior to death.

• #10 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #11 Pheochromocytoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/phaeochromocytoma-1?lang=us/1000

  Pheochromocytomas are an uncommon tumor of the adrenal gland, with characteristic clinical, and to a lesser degree, imaging features. The estimated prevalence of pheochromocytomas in hypertensive adults is thought to range from 0.1-0.6%. The incidence in the general population is believed to be around 0.05% based on autopsy series 9. […] The majority of cases are sporadic. In 25% of cases, a pheochromocytoma is a manifestation of an underlying condition, often familial, including multiple endocrine neoplasia type II (MEN2): both MEN IIa and MEN IIb account for 3% of all pheochromocytomas.

• #12 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  The incidence of pheochromocytoma ranges 0.2-0.8 per 100,000 persons. The median age at diagnosis is 24.9 years in familial cases and 43.9 years in sporadic cases. Both men and women are affected equally by pheochromocytoma. […] In the USA, the incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] Annually reported cases range from 500 to 1600 in the United States. […] Autopsy studies have discovered a higher number of cases than the actual prevalence rates. Ten percent of pheochromocytomas cases are discovered by chance. […] In the USA, the prevalence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] The prevalence of pheochromocytoma in patients with hypertension in general outpatient clinics is about 0.1%. […] The prevalence of pheochromocytoma is approximately 1.7% in children with hypertension.

• #13 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #14 Phaeochromocytoma (Investigations and Treatment)

  https://patient.info/doctor/phaeochromocytoma-pro

  Phaeochromocytomas are rare tumours, with an annual incidence of 2 to 9.1 per 1 million adults and may correspond up to 60% of all adrenal incidentalomas (epinephromas). […] The majority are benign but up to 25% may be malignant. […] Males and females are affected equally. […] Phaeochromocytomas can appear in any age, however, more commonly in the 3rd to 5th decade of life. […] Hereditary disease is more likely to present in younger patients. […] In children presenting with apparently sporadic phaeochromocytomas, up to 70% of cases are due to hereditary disease. […] Phaeochromocytomas are responsible for 0.20.6 of both systolic and diastolic hypertensions and rarely in isolated cases of systolic hypertension. […] However, about 50% of phaeochromocytomas are diagnosed only at autopsy because many of these tumours remain clinically silent during life.

• #15 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #16 Treatment of pheochromocytoma in adults – UpToDate

  https://www.uptodate.com/contents/treatment-of-pheochromocytoma-in-adults

  Pheochromocytoma is a rare neuroendocrine tumor, occurring in less than 0.2 percent of patients with hypertension. […] In approximately 60 percent of patients, the tumor is discovered incidentally during computed tomography (CT) or magnetic resonance imaging (MRI) of the abdomen for unrelated symptoms.

• #17 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #18 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  About 5% of patients with incidentally discovered adrenal masses on imaging actually have pheochromocytoma. […] The prevalence of pheochromocytoma in individuals carrying a germline mutation in pheochromocytoma susceptibility genes may be around 50%. […] The incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons with a perioperative case-fatality rate/mortality rate of about 2.4%. […] Metastatic PPGLs were associated with a 2.40-fold higher risk of mortality than non-metastatic PPGLs (95% confidence interval, 1.38 to 4.17; P=0.002). […] Patients of all age groups may develop pheochromocytoma. Approximately 10% occur in children. […] The median age at diagnosis is 40 years. […] The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. […] Hereditary tumors present at a younger age than sporadic. […] There is no racial predilection to pheochromocytoma. […] Pheochromocytoma affects men and women equally. […] Pheochromocytoma is a rare disease that tends to affect all populations equally.

• #19 Treatment of pheochromocytoma in adults – UpToDate

  https://www.uptodate.com/contents/treatment-of-pheochromocytoma-in-adults

  Pheochromocytoma is a rare neuroendocrine tumor, occurring in less than 0.2 percent of patients with hypertension. […] In approximately 60 percent of patients, the tumor is discovered incidentally during computed tomography (CT) or magnetic resonance imaging (MRI) of the abdomen for unrelated symptoms.

• #20 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #21 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas occur in people of all races, although they are diagnosed less frequently in the black population. Pheochromocytomas may occur in persons of any age, but the peak incidence is from the third to the fifth decades of life. Approximately 10% occur in children. Fifty percent of pheochromocytomas in children are solitary intra-adrenal lesions, 25% are present bilaterally, and 25% are extra-adrenal. […] A study by Iglesias et al looking at 106 patients with pheochromocytoma found that those diagnosed with the sporadic form of the disease tended to be significantly older than those with familial pheochromocytoma (54.5 years vs 40.8 years, respectively).

• #22 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  The incidence of pheochromocytoma ranges 0.2-0.8 per 100,000 persons. The median age at diagnosis is 24.9 years in familial cases and 43.9 years in sporadic cases. Both men and women are affected equally by pheochromocytoma. […] In the USA, the incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] Annually reported cases range from 500 to 1600 in the United States. […] Autopsy studies have discovered a higher number of cases than the actual prevalence rates. Ten percent of pheochromocytomas cases are discovered by chance. […] In the USA, the prevalence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] The prevalence of pheochromocytoma in patients with hypertension in general outpatient clinics is about 0.1%. […] The prevalence of pheochromocytoma is approximately 1.7% in children with hypertension.

• #23 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  The incidence of pheochromocytoma is 2 to 8 per million persons per year. Pheochromocytoma is present in 0.1% to 1% of patients with hypertension, and it is present in approximately 5% of patients with incidentally discovered adrenal masses. The peak incidence occurs in the third to fifth decades of life. The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. The incidence is equal between men and women. […] Of all pheochromocytomas and extra-adrenal paragangliomas, 35% occur in patients with a hereditary cancer syndrome. It has been proposed that all patients diagnosed with a pheochromocytoma or paraganglioma should consider genetic testing because the incidence of a hereditary syndrome in apparently sporadic cases is as high as 25%. Early identification of a hereditary syndrome allows for early screening for other associated tumors and identification of family members who are at risk.

• #24 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  The incidence of pheochromocytoma ranges 0.2-0.8 per 100,000 persons. The median age at diagnosis is 24.9 years in familial cases and 43.9 years in sporadic cases. Both men and women are affected equally by pheochromocytoma. […] In the USA, the incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] Annually reported cases range from 500 to 1600 in the United States. […] Autopsy studies have discovered a higher number of cases than the actual prevalence rates. Ten percent of pheochromocytomas cases are discovered by chance. […] In the USA, the prevalence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons. […] The prevalence of pheochromocytoma in patients with hypertension in general outpatient clinics is about 0.1%. […] The prevalence of pheochromocytoma is approximately 1.7% in children with hypertension.

• #25 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  The incidence of pheochromocytoma is 2 to 8 per million persons per year. Pheochromocytoma is present in 0.1% to 1% of patients with hypertension, and it is present in approximately 5% of patients with incidentally discovered adrenal masses. The peak incidence occurs in the third to fifth decades of life. The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. The incidence is equal between men and women. […] Of all pheochromocytomas and extra-adrenal paragangliomas, 35% occur in patients with a hereditary cancer syndrome. It has been proposed that all patients diagnosed with a pheochromocytoma or paraganglioma should consider genetic testing because the incidence of a hereditary syndrome in apparently sporadic cases is as high as 25%. Early identification of a hereditary syndrome allows for early screening for other associated tumors and identification of family members who are at risk.

• #26 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas occur in people of all races, although they are diagnosed less frequently in the black population. Pheochromocytomas may occur in persons of any age, but the peak incidence is from the third to the fifth decades of life. Approximately 10% occur in children. Fifty percent of pheochromocytomas in children are solitary intra-adrenal lesions, 25% are present bilaterally, and 25% are extra-adrenal. […] A study by Iglesias et al looking at 106 patients with pheochromocytoma found that those diagnosed with the sporadic form of the disease tended to be significantly older than those with familial pheochromocytoma (54.5 years vs 40.8 years, respectively).

• #27 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas occur in people of all races, although they are diagnosed less frequently in the black population. Pheochromocytomas may occur in persons of any age, but the peak incidence is from the third to the fifth decades of life. Approximately 10% occur in children. Fifty percent of pheochromocytomas in children are solitary intra-adrenal lesions, 25% are present bilaterally, and 25% are extra-adrenal. […] A study by Iglesias et al looking at 106 patients with pheochromocytoma found that those diagnosed with the sporadic form of the disease tended to be significantly older than those with familial pheochromocytoma (54.5 years vs 40.8 years, respectively).

• #28 Current Management of Pheochromocytoma/Paraganglioma: A Guide for the Practicing Clinician in the Era of Precision Medicine

  https://www.mdpi.com/2072-6694/11/10/1505

  Pheochromocytomas/paragangliomas (PCCs/PGLs) are rare neuroendocrine tumors, mostly catecholamine-producing and originating from chromaffin tissue derived from the neural crest. The incidence of diagnosed PCC/PGL is about 0.8/100,000 patients/year with around 30–40% being hereditary and another 40–50% of patients showing identifiable somatic mutations in many of the currently identified 20 PCC/PGL susceptibility genes. However, the incidence may be underestimated, since earlier studies showed that 50% of PCCs/PGLs found at autopsy were not clinically suspected or diagnosed. […] The mean age of PCC/PGL diagnosis is the fourth and fifth decade, although 10–20% of all cases are diagnosed in children. Patients with known mutations in susceptibility genes tend to develop PCC/PGL at a younger age, compared with patients with sporadic tumors, in part because of biochemical and/or anatomic surveillance.

• #29 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas occur in people of all races, although they are diagnosed less frequently in the black population. Pheochromocytomas may occur in persons of any age, but the peak incidence is from the third to the fifth decades of life. Approximately 10% occur in children. Fifty percent of pheochromocytomas in children are solitary intra-adrenal lesions, 25% are present bilaterally, and 25% are extra-adrenal. […] A study by Iglesias et al looking at 106 patients with pheochromocytoma found that those diagnosed with the sporadic form of the disease tended to be significantly older than those with familial pheochromocytoma (54.5 years vs 40.8 years, respectively).

• #30 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  About 5% of patients with incidentally discovered adrenal masses on imaging actually have pheochromocytoma. […] The prevalence of pheochromocytoma in individuals carrying a germline mutation in pheochromocytoma susceptibility genes may be around 50%. […] The incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons with a perioperative case-fatality rate/mortality rate of about 2.4%. […] Metastatic PPGLs were associated with a 2.40-fold higher risk of mortality than non-metastatic PPGLs (95% confidence interval, 1.38 to 4.17; P=0.002). […] Patients of all age groups may develop pheochromocytoma. Approximately 10% occur in children. […] The median age at diagnosis is 40 years. […] The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. […] Hereditary tumors present at a younger age than sporadic. […] There is no racial predilection to pheochromocytoma. […] Pheochromocytoma affects men and women equally. […] Pheochromocytoma is a rare disease that tends to affect all populations equally.

• #31 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  The incidence of pheochromocytoma is 2 to 8 per million persons per year. Pheochromocytoma is present in 0.1% to 1% of patients with hypertension, and it is present in approximately 5% of patients with incidentally discovered adrenal masses. The peak incidence occurs in the third to fifth decades of life. The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. The incidence is equal between men and women. […] Of all pheochromocytomas and extra-adrenal paragangliomas, 35% occur in patients with a hereditary cancer syndrome. It has been proposed that all patients diagnosed with a pheochromocytoma or paraganglioma should consider genetic testing because the incidence of a hereditary syndrome in apparently sporadic cases is as high as 25%. Early identification of a hereditary syndrome allows for early screening for other associated tumors and identification of family members who are at risk.

• #32

  https://link.springer.com/article/10.1007/s12094-021-02622-9

  The distribution by gender does not show significant differences, although a greater incidence in females has been observed for vagal and jugulotympanic PGLs, and in high-altitude PGLs. […] The rate of metastatic disease (mPPGL) ranges from less than 1% to 79%, depending upon tumor site and size, age at diagnosis and genotype.

• #33 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas occur in people of all races, although they are diagnosed less frequently in the black population. Pheochromocytomas may occur in persons of any age, but the peak incidence is from the third to the fifth decades of life. Approximately 10% occur in children. Fifty percent of pheochromocytomas in children are solitary intra-adrenal lesions, 25% are present bilaterally, and 25% are extra-adrenal. […] A study by Iglesias et al looking at 106 patients with pheochromocytoma found that those diagnosed with the sporadic form of the disease tended to be significantly older than those with familial pheochromocytoma (54.5 years vs 40.8 years, respectively).

• #34 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #35 Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes in: Endocrine Oncology Volume 2 Issue 1 (2022)

  https://eo.bioscientifica.com/view/journals/eo/2/1/EO-22-0044.xml

  About 30-40% of the PCC/PGL cases are associated with a germline pathogenic variant in a known susceptibility gene, so it is important that patients with PCC/PGL be offered clinical genetic testing. Providers must be aware of the high rate of hereditary PCC/PGL and make the referral for all patients to have genetic counseling and possible testing. If the patient carries a PCC/PGL susceptibility gene, providers must be knowledgeable about the recommendations for gene-specific screening and surveillance for the associated syndromes. […] Knowledge of the germline genetics of PCC/PGL has significantly expanded over the past 20 years. It is now known that about 30-40% of patients with PCC/PGL and 80% of children with PCC/PGL carry a germline pathogenic variant in one of over 12 well-defined susceptibility genes. Therefore, it is recommended that all patients who are diagnosed with PCC/PGL undergo clinical genetic testing. The phenotypes and recommended screening protocols are evolving as more data are collected over time. Importantly, no PCC/PGL can be considered fully benign and all patients should be followed for life for recurrence, new primary PCC/PGL, and metastatic disease.

• #36 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours arising from the adrenal medulla and the sympathetic/parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] All PGL have metastatic potential, but it is rare for PPGL to metastasise apart from SHDB-associated disease, where metastases are reported in up to 40% cases. […] Constitutional (germline) testing of the hereditary PPGL genes is offered as part of the following multigene panels in the National Genomic Test Directory, under indication codes:

• #37 International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01024-5

  Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. […] Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork. […] The higher incidence of hereditary PPGL in children requires multidisciplinary care and lifelong follow-up, with surveillance tailored to the specific gene variant or clinical phenotype. […] Early diagnosis and therapeutic intervention are expected to reduce morbidity and mortality.

• #38 Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes in: Endocrine Oncology Volume 2 Issue 1 (2022)

  https://eo.bioscientifica.com/view/journals/eo/2/1/EO-22-0044.xml

  About 30-40% of the PCC/PGL cases are associated with a germline pathogenic variant in a known susceptibility gene, so it is important that patients with PCC/PGL be offered clinical genetic testing. Providers must be aware of the high rate of hereditary PCC/PGL and make the referral for all patients to have genetic counseling and possible testing. If the patient carries a PCC/PGL susceptibility gene, providers must be knowledgeable about the recommendations for gene-specific screening and surveillance for the associated syndromes. […] Knowledge of the germline genetics of PCC/PGL has significantly expanded over the past 20 years. It is now known that about 30-40% of patients with PCC/PGL and 80% of children with PCC/PGL carry a germline pathogenic variant in one of over 12 well-defined susceptibility genes. Therefore, it is recommended that all patients who are diagnosed with PCC/PGL undergo clinical genetic testing. The phenotypes and recommended screening protocols are evolving as more data are collected over time. Importantly, no PCC/PGL can be considered fully benign and all patients should be followed for life for recurrence, new primary PCC/PGL, and metastatic disease.

• #39 Phaeochromocytoma (Investigations and Treatment)

  https://patient.info/doctor/phaeochromocytoma-pro

  Phaeochromocytomas are rare tumours, with an annual incidence of 2 to 9.1 per 1 million adults and may correspond up to 60% of all adrenal incidentalomas (epinephromas). […] The majority are benign but up to 25% may be malignant. […] Males and females are affected equally. […] Phaeochromocytomas can appear in any age, however, more commonly in the 3rd to 5th decade of life. […] Hereditary disease is more likely to present in younger patients. […] In children presenting with apparently sporadic phaeochromocytomas, up to 70% of cases are due to hereditary disease. […] Phaeochromocytomas are responsible for 0.20.6 of both systolic and diastolic hypertensions and rarely in isolated cases of systolic hypertension. […] However, about 50% of phaeochromocytomas are diagnosed only at autopsy because many of these tumours remain clinically silent during life.

• #40 Phaeochromocytoma (Investigations and Treatment)

  https://patient.info/doctor/phaeochromocytoma-pro

  In MEN 2A patients, cancer develops between second and third decade of the life. […] Phaeochromocytomas may be either sporadic or a manifestation of hereditary (familial) syndromes, which are transmitted in autosomal dominant fashion. […] Up to 70% of phaeochromocytomas/EAPs carry germline or somatic mutations in one of the numerous predisposing genes.

• #41 Hereditary pheochromocytoma-paraganglioma

  https://www.genturis.eu/l=eng/thematic-disease-groups/other-rare-genturis/hereditary-pheochromocytoma-paraganglioma.html

  Pheochromocytoma and paraganglioma are rare neuroendocrine tumours (incidence 1:100.000 per year). […] A significant proportion of pheochromocytomas and paragangliomas (appr. 30-40%) occur as part of a genetic tumour risk syndrome (also termed hereditary cancer predisposition syndrome). […] Hereditary pheochromocytoma-paraganglioma is inherited in an autosomal dominant manner, meaning that each child of an affected individual has a 50% chance to inherit the familial pathogenic variant. […] If a pathogenic variant in any of the hereditary pheochromocytoma-paraganglioma associated genes has been detected in an individual, close follow-up is recommended, and healthy relatives should be offered predictive testing. […] A lifelong regular screening is advised for individuals with hereditary pheochromocytoma-paraganglioma. This typically includes clinical exams and questionnaires, biochemical examinations (metanephrines) and imaging techniques (including magnetic resonance tomography).

• #42 Hereditary pheochromocytoma-paraganglioma

  https://www.genturis.eu/l=eng/thematic-disease-groups/other-rare-genturis/hereditary-pheochromocytoma-paraganglioma.html

  Pheochromocytoma and paraganglioma are rare neuroendocrine tumours (incidence 1:100.000 per year). […] A significant proportion of pheochromocytomas and paragangliomas (appr. 30-40%) occur as part of a genetic tumour risk syndrome (also termed hereditary cancer predisposition syndrome). […] Hereditary pheochromocytoma-paraganglioma is inherited in an autosomal dominant manner, meaning that each child of an affected individual has a 50% chance to inherit the familial pathogenic variant. […] If a pathogenic variant in any of the hereditary pheochromocytoma-paraganglioma associated genes has been detected in an individual, close follow-up is recommended, and healthy relatives should be offered predictive testing. […] A lifelong regular screening is advised for individuals with hereditary pheochromocytoma-paraganglioma. This typically includes clinical exams and questionnaires, biochemical examinations (metanephrines) and imaging techniques (including magnetic resonance tomography).

• #43 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. The incidence of PCC and PGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. It peaks between the 3rd and 5th decades of life, and approximately 20% of cases are pediatric patients. The prevalence among patients with hypertension in outpatient clinic ranges between 0.1-0.6% in adults and between 2-4.5% in the pediatric age group. 10-49% of these tumors is detected incidentally in imaging techniques performed for other reasons. However, 4-8% of adrenal incidentalomas are PCCs. Of these neuroendocrine tumors, 80-85% are PCCs and 15-20% are PGLs. […] Up to 40% of patients with PCC and PGL has disease-specific germline mutations and the situation is hereditary. Of the 60% of the remaining sporadic patients, at least 1/3 has a somatic mutation in predisposing genes. 8% of the sporadic cases, 20-75% of the hereditary cases, 5% of the bilateral, adrenal cases, and 33% of the extra-adrenal cases at first presentation are metastatic.

• #44 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours arising from the adrenal medulla and the sympathetic/parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] All PGL have metastatic potential, but it is rare for PPGL to metastasise apart from SHDB-associated disease, where metastases are reported in up to 40% cases. […] Constitutional (germline) testing of the hereditary PPGL genes is offered as part of the following multigene panels in the National Genomic Test Directory, under indication codes:

• #45 Pheochromocytoma Due to TMEM127 Mutation – The Importance of Genetic Testing for Clinical Decision – touchENDOCRINOLOGY

  https://touchendocrinology.com/endocrine-oncology/journal-articles/pheochromocytoma-due-to-tmem127-mutation-the-importance-of-genetic-testing-for-clinical-decision/

  A previously healthy 53-year-old woman presented with new onset arterial hypertension diagnosed during workup for daily pulsatile bilateral frontal headaches and paroxysmal episodes of fatigue, palpitations and sweating. […] Nowadays, genetic testing is recommended for all patients with pheochromocytoma. […] Due to the high prevalence of multicentric and bilateral tumours in TMEM127-related pheochromocytoma, periodic surveillance of the contralateral adrenal gland is mandatory. […] This case report evidences the benefit of genetic testing for an accurate clinical management and treatment of patients and mutation carriers in TMEM127-related pheochromocytoma.

• #46 Pheochromocytoma

  https://sciendo.com/article/10.2478/enr-2019-0020

  Pheochromocytomas are rare tumors originating in the adrenal medulla. […] A considerable number of pheochromocytomas carry germline or somatic gene mutations, which are inherited in the autosomal dominant way. […] All patients should undergo genetic testing. […] Follow up should be life-long.

• #47 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  The incidence of pheochromocytoma is 2 to 8 per million persons per year. Pheochromocytoma is present in 0.1% to 1% of patients with hypertension, and it is present in approximately 5% of patients with incidentally discovered adrenal masses. The peak incidence occurs in the third to fifth decades of life. The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. The incidence is equal between men and women. […] Of all pheochromocytomas and extra-adrenal paragangliomas, 35% occur in patients with a hereditary cancer syndrome. It has been proposed that all patients diagnosed with a pheochromocytoma or paraganglioma should consider genetic testing because the incidence of a hereditary syndrome in apparently sporadic cases is as high as 25%. Early identification of a hereditary syndrome allows for early screening for other associated tumors and identification of family members who are at risk.

• #48 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours arising from the adrenal medulla and the sympathetic/parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] All PGL have metastatic potential, but it is rare for PPGL to metastasise apart from SHDB-associated disease, where metastases are reported in up to 40% cases. […] Constitutional (germline) testing of the hereditary PPGL genes is offered as part of the following multigene panels in the National Genomic Test Directory, under indication codes:

• #49 Pheochromocytoma – Genetics for Pheochromocytoma

  https://www.adrenal.com/pheochromocytoma/genetics

  Early onset of disease, multiple synchronous tumors, recurrence, metastases, and positive family history are strongly suggestive of a hereditary syndrome. […] Patients with MEN2 should undergo screening for pheochromocytoma, MTC and hyperparathyroidism based on ATA recommendations. […] Several groups have proposed recommendations for tumor screening in VHL. […] There are no recommended screening algorithms for patients with neurofibromatosis 1. […] There are no consensus recommendations regarding management and screening of patients with SDHx, TMEM127, and MAX gene mutations.

• #50 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Although most of the PCC and PGL are benign, the metastatic disease may develop in 15-17%. Metastatic disease is reported between 2-25% in PCCs and 2.4-60% in PGLs. The TNM staging system of the American Joint Committee on Cancer (AJCC) was developed to predict the prognosis, based on the specific anatomical features of the primary tumor and the occurrence of metastasis.

• #51 Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes in: Endocrine Oncology Volume 2 Issue 1 (2022)

  https://eo.bioscientifica.com/view/journals/eo/2/1/EO-22-0044.xml

  Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia, respectively. Approximately 15-25% of PCC/PGL can become metastatic. Up to 30-40% of patients with PCC/PGL have a germline pathogenic variant in a known susceptibility gene for PCC/PGL; therefore, all patients with PCC/PGL should undergo clinical genetic testing. Most of the susceptibility genes are associated with variable penetrance for PCC/PGL and are associated with different syndromes, which include susceptibility for other tumors and conditions. […] PCC/PGL are estimated to occur in 2-8 per million individuals. PCC/PGL can cause high morbidity from catecholamine secretion and mass effect and can lead to high mortality if unrecognized or when metastatic. About 15-25% of PCC/PGL metastasize, and once this happens, there is a 43-69% 5-year survival rate. Metastatic disease can be found at the time of initial diagnosis or even over 20 years later.

• #52 Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7326683/

  Although most of the PCC and PGL are benign, the metastatic disease may develop in 15-17%. Metastatic disease is reported between 2-25% in PCCs and 2.4-60% in PGLs. The TNM staging system of the American Joint Committee on Cancer (AJCC) was developed to predict the prognosis, based on the specific anatomical features of the primary tumor and the occurrence of metastasis.

• #53

  https://link.springer.com/article/10.1007/s12094-021-02622-9

  The distribution by gender does not show significant differences, although a greater incidence in females has been observed for vagal and jugulotympanic PGLs, and in high-altitude PGLs. […] The rate of metastatic disease (mPPGL) ranges from less than 1% to 79%, depending upon tumor site and size, age at diagnosis and genotype.

• #54 Current Management of Pheochromocytoma/Paraganglioma: A Guide for the Practicing Clinician in the Era of Precision Medicine

  https://www.mdpi.com/2072-6694/11/10/1505

  Moreover, there are some predictors associated with a higher likelihood of metastatic disease. These include size (≥5–6 cm), extra-adrenal location of the primary tumor, noradrenergic/dopaminergic biochemical phenotype, mutations of the succinate dehydrogenase A and B (SDHA/B) genes, tumor multiplicity/recurrence, and age at first presentation (<20 years).

• #55

  https://link.springer.com/article/10.1007/s12094-021-02622-9

  Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively. The joint annual incidence of PPGL is estimated to be 28 cases per million inhabitants. A recent study from Canada disclosed an annual incidence of 6.6 cases per million inhabitants, half of them corresponding to pheochromocytomas and 37% of them to head and neck paragangliomas, most of them known to be parasympathetic. In another study from Holland, the annual incidence of PCCs and of sympathetic PGLs were 4.6 and 1.1 cases per million inhabitants, respectively, which had increased compared to previous years likely due to improved diagnostic techniques and clinical awareness. The distribution by gender does not show significant differences, although a greater incidence in females has been observed for vagal and jugulotympanic PGLs, and in high-altitude PGLs. PPGLs are commonly diagnosed within the 4th and 6th decades, although these neoplasms can occur over a wide age range. They appear at a younger age when they occur as part of a hereditary syndrome. At pediatric ages, extra-adrenal PGLs account for more than two-thirds of the cases, and four of five cases are associated with a hereditary form of the disease. The rate of metastatic disease (mPPGL) ranges from less than 1% to 79%, depending upon tumor site and size, age at diagnosis and genotype. Although some features included size greater than 5 cm, extra-adrenal primary tumor site, or high levels of plasma 3-metoxitiramine (3-MT) provide useful information to assess the risk of metastasis, the presence of mutations in the succinate dehydrogenase complex iron sulfur subunit B (SDHBMut) is the only universally accepted criterion associated with a high risk of distant disease, both at diagnosis or during follow-up, ranging from 20 to 70% in different patient cohorts. Recent data also suggest a higher metastatic risk in patients with mutations in other genes involved in the Krebs cycle. Overall, the prognosis of PPGL is heterogeneous. Goffredo et al. analyzed 508 PPGL patients from 18 US registries (time frame 19882009) and reported a 5-year overall survival (OS) rate of 58% for metastatic PCCs and 80% for metastatic PGLs. More recently, a retrospective study of 169 patients from 18 European centers (time frame 19982010) by Hescot et al. reported a global 5-year OS rate of 62% and a median OS of 6.7 years for mPPGL.

• #56 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/inherited-phaeochromocytoma-and-paraganglioma/

  Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours arising from the adrenal medulla and the sympathetic/parasympathetic ganglia respectively. […] It is estimated that up to 30%40% of phaeochromocytomas and paragangliomas (PPGL) are secondary to a constitutional variant in one of the more than 20 reported susceptibility genes. […] Hereditary PPGL should be strongly suspected in an individual with multiple, multifocal, recurrent, metastatic, or early-onset PGL or PCC, and/or a family history of PGL or PCC. […] All PGL have metastatic potential, but it is rare for PPGL to metastasise apart from SHDB-associated disease, where metastases are reported in up to 40% cases. […] Constitutional (germline) testing of the hereditary PPGL genes is offered as part of the following multigene panels in the National Genomic Test Directory, under indication codes:

• #57 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  Long-term follow-up is essential for all patients with pheochromocytoma or extra-adrenal paraganglioma, even when initial pathology demonstrates no findings that are concerning for malignancy. After resection of a solitary sporadic pheochromocytoma, patients should undergo baseline postoperative biochemical testing followed by annual lifelong biochemical testing. Patients with a hereditary pheochromocytoma/paraganglioma syndrome who have undergone resection require lifelong annual biochemical screening in addition to routine screening for other component tumors of their specific syndrome.

• #58 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  At least 10% of pheochromocytomas (PHEOs) and paragangliomas (PPGLs) may recur after the initial surgery. […] The 2014 Endocrine Society Guidelines suggest lifelong follow-up to assess for recurrence or metastatic disease. […] More recently, the European Society of Endocrinology Guidelines suggests a biochemical follow-up of at least ten years for low-risk patients and lifelong follow-up for high-risk patients (young patients, large tumors, genetic mutation, and PGL) with added imaging in patients with a biochemically silent tumor or a known genetic mutation. […] The recurrence rate for PPGLs is approximately 6.5–17.4%, and early detection is important to reduce morbidity and mortality caused by mass effect, catecholamine secretion, and metastatic recurrence. […] In sum, this paper supports that overall, the safest option remains a lifelong follow-up.

• #59 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  Long-term follow-up is essential for all patients with pheochromocytoma or extra-adrenal paraganglioma, even when initial pathology demonstrates no findings that are concerning for malignancy. After resection of a solitary sporadic pheochromocytoma, patients should undergo baseline postoperative biochemical testing followed by annual lifelong biochemical testing. Patients with a hereditary pheochromocytoma/paraganglioma syndrome who have undergone resection require lifelong annual biochemical screening in addition to routine screening for other component tumors of their specific syndrome.

• #60 Pheochromocytoma and Paraganglioma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/pheochromocytoma/hp/pheochromocytoma-treatment-pdq

  Long-term follow-up is essential for all patients with pheochromocytoma or extra-adrenal paraganglioma, even when initial pathology demonstrates no findings that are concerning for malignancy. After resection of a solitary sporadic pheochromocytoma, patients should undergo baseline postoperative biochemical testing followed by annual lifelong biochemical testing. Patients with a hereditary pheochromocytoma/paraganglioma syndrome who have undergone resection require lifelong annual biochemical screening in addition to routine screening for other component tumors of their specific syndrome.

• #61 International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01024-5

  In children with hereditary PPGL or risk factors for metastatic recurrence, surveillance should include interval anatomical imaging using MRI as the preferred modality. […] Lifelong follow-up is essential to screen for both recurrent metastatic disease and synchronous tumours or syndrome-related pathologies. […] In children with a history of PPGL but without a germline pathogenic variant in a PPGL predisposition gene or evidence of a somatic or mosaic somatic pathogenic variant, the duration of follow-up should be a minimum of 10 years. […] Surveillance strategies for asymptomatic gene carriers should be specifically tailored to the genetic diagnosis and should consider the anticipated phenotype and penetrance of the gene.

• #62 Pheochromocytoma – Genetics for Pheochromocytoma

  https://www.adrenal.com/pheochromocytoma/genetics

  Early onset of disease, multiple synchronous tumors, recurrence, metastases, and positive family history are strongly suggestive of a hereditary syndrome. […] Patients with MEN2 should undergo screening for pheochromocytoma, MTC and hyperparathyroidism based on ATA recommendations. […] Several groups have proposed recommendations for tumor screening in VHL. […] There are no recommended screening algorithms for patients with neurofibromatosis 1. […] There are no consensus recommendations regarding management and screening of patients with SDHx, TMEM127, and MAX gene mutations.

• #63 SciELO Brazil – Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, a

  https://www.scielo.br/j/aem/a/8DPHFNYfHpj3X5Y48n3KhDC/

  PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. […] Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. […] Genetic testing should be considered in all patients with these tumors because at least 30~40% of all patients with PGL/PCC have pathogenic germline mutations, and up to 50% of metastatic PGL/PCC may be associated with SDHB mutations. […] Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical, and imaging surveillance. […] For patients with mutations affecting the SDH complex, surveillance should begin between 5 and 10 years of age; it has been estimated that if screening started at 10 years of age, disease would be detected in all persons with SDHD mutations and 96% of persons with SDHB mutations.

• #64 International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01024-5

  In children with hereditary PPGL or risk factors for metastatic recurrence, surveillance should include interval anatomical imaging using MRI as the preferred modality. […] Lifelong follow-up is essential to screen for both recurrent metastatic disease and synchronous tumours or syndrome-related pathologies. […] In children with a history of PPGL but without a germline pathogenic variant in a PPGL predisposition gene or evidence of a somatic or mosaic somatic pathogenic variant, the duration of follow-up should be a minimum of 10 years. […] Surveillance strategies for asymptomatic gene carriers should be specifically tailored to the genetic diagnosis and should consider the anticipated phenotype and penetrance of the gene.

• #65 International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01024-5

  In children with hereditary PPGL or risk factors for metastatic recurrence, surveillance should include interval anatomical imaging using MRI as the preferred modality. […] Lifelong follow-up is essential to screen for both recurrent metastatic disease and synchronous tumours or syndrome-related pathologies. […] In children with a history of PPGL but without a germline pathogenic variant in a PPGL predisposition gene or evidence of a somatic or mosaic somatic pathogenic variant, the duration of follow-up should be a minimum of 10 years. […] Surveillance strategies for asymptomatic gene carriers should be specifically tailored to the genetic diagnosis and should consider the anticipated phenotype and penetrance of the gene.

• #66 SciELO Brazil – Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, a

  https://www.scielo.br/j/aem/a/8DPHFNYfHpj3X5Y48n3KhDC/

  PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. […] Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. […] Genetic testing should be considered in all patients with these tumors because at least 30~40% of all patients with PGL/PCC have pathogenic germline mutations, and up to 50% of metastatic PGL/PCC may be associated with SDHB mutations. […] Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical, and imaging surveillance. […] For patients with mutations affecting the SDH complex, surveillance should begin between 5 and 10 years of age; it has been estimated that if screening started at 10 years of age, disease would be detected in all persons with SDHD mutations and 96% of persons with SDHB mutations.

• #67 Post-Operative Biochemical Surveillance Thresholds Can be Used to Monitor for Sympathetic Pheochromocytoma/Paraganglioma Recurrence and Metastasis | NANETS2022 | NANETS 2022 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0089/ea0089c43

  Post-Operative Biochemical Surveillance Thresholds Can be Used to Monitor for Sympathetic Pheochromocytoma/Paraganglioma Recurrence and Metastasis […] Routine biochemical and imaging surveillance to monitor for recurrence and metastasis is recommended. However, there is limited data describing optimal surveillance approaches and post-operative biochemical thresholds for detecting recurrences or metastases. […] Biochemical surveillance was the most commonly used surveillance modality (91% of patients at 1 year). Only 45 patients (56%) had both biochemical and imaging surveillance at 1 year. […] Routine postoperative biochemical surveillance in patients with functional PPGL may be adequate to detect development of LRR/metastasis. Normetanephrine levels 2 times the ULN are suggestive of LRR/metastasis. Elevated post-operative metanephrine levels are observed but did not exceed 2 times the ULN in patients without LRR/metastasis. This data may be helpful in determining optimal modalities for long-term surveillance.

• #68 UK recommendations for SDHA germline genetic testing and surveillance in clinical practice | Journal of Medical Genetics

  https://jmg.bmj.com/content/60/2/107

  At the UKCGG (UK Cancer Genetics Group) Consensus meeting in Cambridge in Spring 2019, a surveillance protocol for SDHA PGV carriers was agreed consisting of annual clinical review and biochemistry with abdominal imaging and MRI neck, thorax, abdomen and pelvis at baseline, followed by 35 yearly imaging, based on published recommendations and expert opinion. […] The working group felt that due to the low penetrance of SDHA PGVs outside the context of a personal or family history of SDHA-associated tumours, in this situation we would not recommend any surveillance in affected individuals or predictive testing for other family members. […] For an SDHA PGV carrier with an SDHA-associated tumour, with respect to the primary tumour, we would recommend at the very least annual clinical examination to include blood pressure assessment and biochemistry to include plasma metanephrines, combined with imaging of the original tumour region.

• #69 SDHA-related phaeochromocytoma and paraganglioma: review and clinical management in: Endocrine-Related Cancer Volume 31 Issue 10 (2024)

  https://erc.bioscientifica.com/view/journals/erc/31/10/ERC-24-0111.xml

  Genetic testing is recommended for all patients presenting with PPGL. Genetic heterogeneity led previously to algorithms or protocols to prioritise genetic testing based on several factors, including biochemical signature, age at presentation, tumour location, presence of metastases, and family history. […] While our analysis suggests a more conservative estimate for metastatic risk, there are several limitations. […] Current recommendations for follow-up of patients with germline SDHA PVs and a history of surgically resected PPGL are 612 monthly biochemical measures and 1224 monthly imaging consisting of MRI and/or low-dose chest CT.

• #70 International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01024-5

  In children with hereditary PPGL or risk factors for metastatic recurrence, surveillance should include interval anatomical imaging using MRI as the preferred modality. […] Lifelong follow-up is essential to screen for both recurrent metastatic disease and synchronous tumours or syndrome-related pathologies. […] In children with a history of PPGL but without a germline pathogenic variant in a PPGL predisposition gene or evidence of a somatic or mosaic somatic pathogenic variant, the duration of follow-up should be a minimum of 10 years. […] Surveillance strategies for asymptomatic gene carriers should be specifically tailored to the genetic diagnosis and should consider the anticipated phenotype and penetrance of the gene.

• #71 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  At least 10% of pheochromocytomas (PHEOs) and paragangliomas (PPGLs) may recur after the initial surgery. […] The 2014 Endocrine Society Guidelines suggest lifelong follow-up to assess for recurrence or metastatic disease. […] More recently, the European Society of Endocrinology Guidelines suggests a biochemical follow-up of at least ten years for low-risk patients and lifelong follow-up for high-risk patients (young patients, large tumors, genetic mutation, and PGL) with added imaging in patients with a biochemically silent tumor or a known genetic mutation. […] The recurrence rate for PPGLs is approximately 6.5–17.4%, and early detection is important to reduce morbidity and mortality caused by mass effect, catecholamine secretion, and metastatic recurrence. […] In sum, this paper supports that overall, the safest option remains a lifelong follow-up.

• #72 Pheochromocytoma Diagnosis & Treatment – Cancer Therapy Advisor

  https://www.cancertherapyadvisor.com/ddi/pheochromocytoma/

  Lifelong monitoring after surgery will be required to ensure that the pheochromocytoma treatment was successful, identify complications, and monitor tumor recurrence. […] If metanephrine levels are elevated for three months after surgical resection, further imaging is indicated to look for another tumor. […] Although the long-term prognosis after surgery is excellent, nearly 50% of patients will remain hypertensive, and roughly 17% of tumors will recur, with approximately half of these showing signs of malignancy.

• #73 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  The optimal timing, duration, and modality of follow-up vary from study to study due to a lack of systematic studies and the rarity of the disease. […] Our study included a cohort of 309 patients with PPGLs: 177 patients (57.3%) with PHEO, 129 (41.7%) with PGL, and 3 (1.0%) with both PHEO and PGL at diagnosis. […] We identified 39 patients with recurrences: 20 PHEOs and 19 PGLs. […] The overall mean delay of recurrence was 116.6 months (14–584 months) or 9.7 years and the median was 71 months or 5.9 years. […] The majority of patients had a recurrence more than 5 years after initial resection (64.1%) and one-third of patients had a recurrence after 10 years of follow-up. […] Overall, 46.2% of the recurrences were local and 53.8% were metastatic. […] A study by Timmers et al. showed that more than 75% of recurrent PHEOs were metastatic.

• #74 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  The optimal timing, duration, and modality of follow-up vary from study to study due to a lack of systematic studies and the rarity of the disease. […] Our study included a cohort of 309 patients with PPGLs: 177 patients (57.3%) with PHEO, 129 (41.7%) with PGL, and 3 (1.0%) with both PHEO and PGL at diagnosis. […] We identified 39 patients with recurrences: 20 PHEOs and 19 PGLs. […] The overall mean delay of recurrence was 116.6 months (14–584 months) or 9.7 years and the median was 71 months or 5.9 years. […] The majority of patients had a recurrence more than 5 years after initial resection (64.1%) and one-third of patients had a recurrence after 10 years of follow-up. […] Overall, 46.2% of the recurrences were local and 53.8% were metastatic. […] A study by Timmers et al. showed that more than 75% of recurrent PHEOs were metastatic.

• #75 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  The optimal timing, duration, and modality of follow-up vary from study to study due to a lack of systematic studies and the rarity of the disease. […] Our study included a cohort of 309 patients with PPGLs: 177 patients (57.3%) with PHEO, 129 (41.7%) with PGL, and 3 (1.0%) with both PHEO and PGL at diagnosis. […] We identified 39 patients with recurrences: 20 PHEOs and 19 PGLs. […] The overall mean delay of recurrence was 116.6 months (14–584 months) or 9.7 years and the median was 71 months or 5.9 years. […] The majority of patients had a recurrence more than 5 years after initial resection (64.1%) and one-third of patients had a recurrence after 10 years of follow-up. […] Overall, 46.2% of the recurrences were local and 53.8% were metastatic. […] A study by Timmers et al. showed that more than 75% of recurrent PHEOs were metastatic.

• #76 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  The optimal timing, duration, and modality of follow-up vary from study to study due to a lack of systematic studies and the rarity of the disease. […] Our study included a cohort of 309 patients with PPGLs: 177 patients (57.3%) with PHEO, 129 (41.7%) with PGL, and 3 (1.0%) with both PHEO and PGL at diagnosis. […] We identified 39 patients with recurrences: 20 PHEOs and 19 PGLs. […] The overall mean delay of recurrence was 116.6 months (14–584 months) or 9.7 years and the median was 71 months or 5.9 years. […] The majority of patients had a recurrence more than 5 years after initial resection (64.1%) and one-third of patients had a recurrence after 10 years of follow-up. […] Overall, 46.2% of the recurrences were local and 53.8% were metastatic. […] A study by Timmers et al. showed that more than 75% of recurrent PHEOs were metastatic.

• #77 Epidemiology and Prognosis of Pheochromocytoma/Paraganglioma in Korea: A Nationwide Study Based on the National Health Insurance Service

  https://www.e-enm.org/journal/view.php?number=2016

  Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors originating from chromaffin cells. This study aimed to investigate the epidemiology and prognosis of PPGLs in Korea using nationwide data. The overall prevalence of PPGLs was 2.13 per 100,000 persons, and the overall age-standardized incidence rate was 0.18 per 100,000 person-years. Malignant PPGLs accounted for 17.7% (185 of 1,048) of cases, and 94 subjects exhibited metastasis at the time of diagnosis. The 5-year survival rates for non-metastatic and metastatic PPGLs at diagnosis were 97% and 84%, respectively. This epidemiological study paves the way for further research on PPGLs. […] This was the first nationwide population-based epidemiological study of PPGLs to be conducted in Asia, using NHIS data from Korea. In this study, PPGLs were found to have a prevalence of 2.13 per 100,000 persons and an age-standardized incidence of 0.18 per 100,000 person-years. The overall rate of PPGLs showing malignancy at initial diagnosis or during the follow-up period was 17.7% (185 of 1,048).

• #78

  https://link.springer.com/article/10.1007/s12094-021-02622-9

  Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively. The joint annual incidence of PPGL is estimated to be 28 cases per million inhabitants. A recent study from Canada disclosed an annual incidence of 6.6 cases per million inhabitants, half of them corresponding to pheochromocytomas and 37% of them to head and neck paragangliomas, most of them known to be parasympathetic. In another study from Holland, the annual incidence of PCCs and of sympathetic PGLs were 4.6 and 1.1 cases per million inhabitants, respectively, which had increased compared to previous years likely due to improved diagnostic techniques and clinical awareness. The distribution by gender does not show significant differences, although a greater incidence in females has been observed for vagal and jugulotympanic PGLs, and in high-altitude PGLs. PPGLs are commonly diagnosed within the 4th and 6th decades, although these neoplasms can occur over a wide age range. They appear at a younger age when they occur as part of a hereditary syndrome. At pediatric ages, extra-adrenal PGLs account for more than two-thirds of the cases, and four of five cases are associated with a hereditary form of the disease. The rate of metastatic disease (mPPGL) ranges from less than 1% to 79%, depending upon tumor site and size, age at diagnosis and genotype. Although some features included size greater than 5 cm, extra-adrenal primary tumor site, or high levels of plasma 3-metoxitiramine (3-MT) provide useful information to assess the risk of metastasis, the presence of mutations in the succinate dehydrogenase complex iron sulfur subunit B (SDHBMut) is the only universally accepted criterion associated with a high risk of distant disease, both at diagnosis or during follow-up, ranging from 20 to 70% in different patient cohorts. Recent data also suggest a higher metastatic risk in patients with mutations in other genes involved in the Krebs cycle. Overall, the prognosis of PPGL is heterogeneous. Goffredo et al. analyzed 508 PPGL patients from 18 US registries (time frame 19882009) and reported a 5-year overall survival (OS) rate of 58% for metastatic PCCs and 80% for metastatic PGLs. More recently, a retrospective study of 169 patients from 18 European centers (time frame 19982010) by Hescot et al. reported a global 5-year OS rate of 62% and a median OS of 6.7 years for mPPGL.

• #79

  https://link.springer.com/article/10.1007/s12094-021-02622-9

  Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively. The joint annual incidence of PPGL is estimated to be 28 cases per million inhabitants. A recent study from Canada disclosed an annual incidence of 6.6 cases per million inhabitants, half of them corresponding to pheochromocytomas and 37% of them to head and neck paragangliomas, most of them known to be parasympathetic. In another study from Holland, the annual incidence of PCCs and of sympathetic PGLs were 4.6 and 1.1 cases per million inhabitants, respectively, which had increased compared to previous years likely due to improved diagnostic techniques and clinical awareness. The distribution by gender does not show significant differences, although a greater incidence in females has been observed for vagal and jugulotympanic PGLs, and in high-altitude PGLs. PPGLs are commonly diagnosed within the 4th and 6th decades, although these neoplasms can occur over a wide age range. They appear at a younger age when they occur as part of a hereditary syndrome. At pediatric ages, extra-adrenal PGLs account for more than two-thirds of the cases, and four of five cases are associated with a hereditary form of the disease. The rate of metastatic disease (mPPGL) ranges from less than 1% to 79%, depending upon tumor site and size, age at diagnosis and genotype. Although some features included size greater than 5 cm, extra-adrenal primary tumor site, or high levels of plasma 3-metoxitiramine (3-MT) provide useful information to assess the risk of metastasis, the presence of mutations in the succinate dehydrogenase complex iron sulfur subunit B (SDHBMut) is the only universally accepted criterion associated with a high risk of distant disease, both at diagnosis or during follow-up, ranging from 20 to 70% in different patient cohorts. Recent data also suggest a higher metastatic risk in patients with mutations in other genes involved in the Krebs cycle. Overall, the prognosis of PPGL is heterogeneous. Goffredo et al. analyzed 508 PPGL patients from 18 US registries (time frame 19882009) and reported a 5-year overall survival (OS) rate of 58% for metastatic PCCs and 80% for metastatic PGLs. More recently, a retrospective study of 169 patients from 18 European centers (time frame 19982010) by Hescot et al. reported a global 5-year OS rate of 62% and a median OS of 6.7 years for mPPGL.

• #80 Pheochromocytoma epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Pheochromocytoma_epidemiology_and_demographics

  About 5% of patients with incidentally discovered adrenal masses on imaging actually have pheochromocytoma. […] The prevalence of pheochromocytoma in individuals carrying a germline mutation in pheochromocytoma susceptibility genes may be around 50%. […] The incidence of pheochromocytoma ranges from 0.2-0.8 per 100,000 persons with a perioperative case-fatality rate/mortality rate of about 2.4%. […] Metastatic PPGLs were associated with a 2.40-fold higher risk of mortality than non-metastatic PPGLs (95% confidence interval, 1.38 to 4.17; P=0.002). […] Patients of all age groups may develop pheochromocytoma. Approximately 10% occur in children. […] The median age at diagnosis is 40 years. […] The average age at diagnosis is 24.9 years in hereditary cases and 43.9 years in sporadic cases. […] Hereditary tumors present at a younger age than sporadic. […] There is no racial predilection to pheochromocytoma. […] Pheochromocytoma affects men and women equally. […] Pheochromocytoma is a rare disease that tends to affect all populations equally.

• #81 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas are rare, reportedly occurring in 0.050.2% of hypertensive individuals. This accounts for only a portion of cases, however, as patients may be completely asymptomatic. A retrospective study from the Mayo Clinic revealed that in 50% of cases of pheochromocytoma, the diagnosis was made at autopsy. Approximately 10% of pheochromocytomas are discovered incidentally. […] […] A Dutch study, by Berends et al, found an increase in the age-standardized incidence rate (ASR) of pheochromocytomas and sympathetic paragangliomas in the Netherlands between 1995 and 2015. The investigators reported that the ASR between 1995 and 1999 was 0.29 per 100,000 person-years, compared with 0.46 per 100,000 person-years between 2011 and 2015. The ASRs for sympathetic paragangliomas rose between these same two periods from 0.08 to 0.11 per 100,000 person-years. There was also a trend during this 20-year period towards patients being older and tumor size smaller at diagnosis. The investigators suggested that clinical practice changes, along with greater use of imaging and biochemical studies, were at least partially responsible for the incidence increases. […]

• #82 Pheochromocytomas in Animals – Endocrine System – Merck Veterinary Manual

  https://www.merckvetmanual.com/endocrine-system/neuroendocrine-tumors/pheochromocytomas-in-animals

  Pheochromocytomas have been identified more often in dogs (uncommon) than in cats (rare), usually affect only one gland, and tend to occur in older animals. There is no breed predilection. Males may be overrepresented. […] Incidental masses in the area of the adrenal glands are being discovered with greater frequency because of the increased use of abdominal ultrasonographic evaluation and other imaging techniques. Pheochromocytoma, although rare, should be a differential diagnosis whenever such a mass is identified.

• #83 Phaeochromocytoma: current concepts | The Medical Journal of Australia

  https://www.mja.com.au/journal/2005/183/4/phaeochromocytoma-current-concepts

  However, the era of such classic presentations may be waning, as an increasing proportion of phaeochromocytomas are detected at an early stage, before clinical signs and symptoms become apparent. […] A US National Institutes of Health expert panel in 2003 recommended biochemical evaluation of all patients with incidentally discovered adrenal masses, and surgical removal of lesions proven to hypersecrete catecholamines. […] Phaeochromocytomas are generally radioresistant, and chemotherapy most often produces only temporary improvement. […] In the future, genetic screening of at-risk individuals should identify an increasing number of patients with early stage disease.

• #84 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas are rare, reportedly occurring in 0.050.2% of hypertensive individuals. This accounts for only a portion of cases, however, as patients may be completely asymptomatic. A retrospective study from the Mayo Clinic revealed that in 50% of cases of pheochromocytoma, the diagnosis was made at autopsy. Approximately 10% of pheochromocytomas are discovered incidentally. […] […] A Dutch study, by Berends et al, found an increase in the age-standardized incidence rate (ASR) of pheochromocytomas and sympathetic paragangliomas in the Netherlands between 1995 and 2015. The investigators reported that the ASR between 1995 and 1999 was 0.29 per 100,000 person-years, compared with 0.46 per 100,000 person-years between 2011 and 2015. The ASRs for sympathetic paragangliomas rose between these same two periods from 0.08 to 0.11 per 100,000 person-years. There was also a trend during this 20-year period towards patients being older and tumor size smaller at diagnosis. The investigators suggested that clinical practice changes, along with greater use of imaging and biochemical studies, were at least partially responsible for the incidence increases. […]

• #85 Phaeochromocytoma: current concepts | The Medical Journal of Australia

  https://www.mja.com.au/journal/2005/183/4/phaeochromocytoma-current-concepts

  However, the era of such classic presentations may be waning, as an increasing proportion of phaeochromocytomas are detected at an early stage, before clinical signs and symptoms become apparent. […] A US National Institutes of Health expert panel in 2003 recommended biochemical evaluation of all patients with incidentally discovered adrenal masses, and surgical removal of lesions proven to hypersecrete catecholamines. […] Phaeochromocytomas are generally radioresistant, and chemotherapy most often produces only temporary improvement. […] In the future, genetic screening of at-risk individuals should identify an increasing number of patients with early stage disease.

• #86 Pheochromocytoma: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/988683-overview

  Pheochromocytomas are rare, reportedly occurring in 0.050.2% of hypertensive individuals. This accounts for only a portion of cases, however, as patients may be completely asymptomatic. A retrospective study from the Mayo Clinic revealed that in 50% of cases of pheochromocytoma, the diagnosis was made at autopsy. Approximately 10% of pheochromocytomas are discovered incidentally. […] […] A Dutch study, by Berends et al, found an increase in the age-standardized incidence rate (ASR) of pheochromocytomas and sympathetic paragangliomas in the Netherlands between 1995 and 2015. The investigators reported that the ASR between 1995 and 1999 was 0.29 per 100,000 person-years, compared with 0.46 per 100,000 person-years between 2011 and 2015. The ASRs for sympathetic paragangliomas rose between these same two periods from 0.08 to 0.11 per 100,000 person-years. There was also a trend during this 20-year period towards patients being older and tumor size smaller at diagnosis. The investigators suggested that clinical practice changes, along with greater use of imaging and biochemical studies, were at least partially responsible for the incidence increases. […]

• #87 Phaeochromocytoma: current concepts | The Medical Journal of Australia

  https://www.mja.com.au/journal/2005/183/4/phaeochromocytoma-current-concepts

  However, the era of such classic presentations may be waning, as an increasing proportion of phaeochromocytomas are detected at an early stage, before clinical signs and symptoms become apparent. […] A US National Institutes of Health expert panel in 2003 recommended biochemical evaluation of all patients with incidentally discovered adrenal masses, and surgical removal of lesions proven to hypersecrete catecholamines. […] Phaeochromocytomas are generally radioresistant, and chemotherapy most often produces only temporary improvement. […] In the future, genetic screening of at-risk individuals should identify an increasing number of patients with early stage disease.

• #88 Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance

  https://www.mdpi.com/2072-6694/14/12/2942

  In conclusion, in our cohort of patients with recurrent PPGLs, a majority had recurrences after 5 years of follow-up, with a third of them recurring after 10 years. […] Thus, a follow-up approach based on patient and tumor characteristics remains complex, as neither size, age nor mutational status are perfect predictors of recurrences.

Zobacz więcej