Materiały źródłowe

• #1 Epidemiology, clinical presentation, and diagnosis of paragangliomas – UpToDate

  https://www.uptodate.com/contents/epidemiology-clinical-presentation-and-diagnosis-of-paragangliomas

  Epidemiology, clinical presentation, and diagnosis of paragangliomas […] Paragangliomas are rare neuroendocrine tumors that arise from the extra-adrenal autonomic paraganglia, small organs consisting mainly of neuroendocrine cells that are derived from the embryonic neural crest and have the ability to secrete catecholamines (figure 1). […] Even with modern genetic testing, the majority of paragangliomas appear to be sporadic. Approximately one-third to one-half of paragangliomas are associated with an inherited syndrome. […] Some hereditary paragangliomas, particularly those arising in the skull base and neck, have been linked to pathogenic variants in the genes encoding different subunits of the succinate dehydrogenase (SDH) enzyme complex. […] In addition, susceptibility to pheochromocytomas and paragangliomas is an established component of four genetic syndromes, multiple endocrine neoplasia types 2A and 2B (MEN2), neurofibromatosis type 1 (NF1), von Hippel Lindau (VHL), and Carney-Stratakis dyad. […] This topic review will cover the epidemiology, risk factors, molecular pathogenesis, histology, clinical manifestations, diagnosis, and genetic screening issues of paragangliomas arising at a variety of sites in the body.

• #1 Paraganglioma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549834/

  Paragangliomas are related to pheochromocytomas and are often grouped together, contributing to some uncertainty regarding their precise incidence. In the US, medical professionals diagnose approximately 500 to 1000 paragangliomas annually. The combined incidence of paragangliomas and pheochromocytomas is 0.7 to 1.0 per 100,000 person-years. […] Most patients with sporadic paraganglioma present between their 30s and 50s, with the mean age of diagnosis being 47. Tumors located in the skull base and neck tend to occur in older patients. In contrast, abdominal tumors are more likely to present in patients at a younger age, around 36, compared to 43 for those with tumors in the skull base and neck. […] Most paragangliomas are benign. The incidence of malignant paragangliomas is around 90 to 95 cases per 400 million person-years. Among patients with hereditary paraganglioma, the male-to-female ratio is approximately equal. In contrast, sporadic tumors are much more prevalent in females, with a female-to-male ratio of 3 to 1.

• #2 Epidemiology, clinical presentation, and diagnosis of paragangliomas – UpToDate

  https://www.uptodate.com/contents/paragangliomas-epidemiology-clinical-presentation-diagnosis-and-histology

  Epidemiology, clinical presentation, and diagnosis of paragangliomas […] Paragangliomas are rare neuroendocrine tumors that arise from the extra-adrenal autonomic paraganglia, small organs consisting mainly of neuroendocrine cells that are derived from the embryonic neural crest and have the ability to secrete catecholamines (figure 1). […] Even with modern genetic testing, the majority of paragangliomas appear to be sporadic. Approximately one-third to one-half of paragangliomas are associated with an inherited syndrome. Some hereditary paragangliomas, particularly those arising in the skull base and neck, have been linked to pathogenic variants in the genes encoding different subunits of the succinate dehydrogenase (SDH) enzyme complex. […] This topic review will cover the epidemiology, risk factors, molecular pathogenesis, histology, clinical manifestations, diagnosis, and genetic screening issues of paragangliomas arising at a variety of sites in the body. […] […] In this article, the term paraganglioma is used to designate both functioning (catecholamine-secreting) and nonfunctioning tumors arising in the paraganglia outside of the adrenal gland, and the term pheochromocytoma is used to designate those tumors that arise in the adrenal glands.

• #2 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 have 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.

• #3 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. […] To date, no epidemiological studies have been conducted on PPGLs in Asia. 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. […] The overall rate of PPGLs showing malignancy at initial diagnosis or during the follow-up period was 17.7% (185 of 1,048). […] 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.

• #4 Paraganglioma – Wikipedia

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

  A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the head, neck, thorax and abdomen). They are rare tumors, with an overall estimated incidence of 1 in 300,000. […] Long-term follow-up is therefore recommended for all individuals with paraganglioma. […] About 85% of paragangliomas develop in the abdomen; only 12% develop in the chest and 3% in the head and neck region (the latter are the most likely to be symptomatic). […] Paragangliomas are described by their site of origin and are often given special names. […] Gallium-68 DOTATATE PET/CT imaging modality may be used to confirm the presence of a paraganglioma.

• #5 Paraganglioma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/paraganglioma

  Paraganglioma (pr-gnggl-m) is a rare, slow-growing tumor that is closely related to pheochromocytoma. They occur in both men and women equally, and they affect every race of people. They can occur at any age, but the peak incidence occurs in the third to fifth decades in life. […] Approximately 85% of paragangliomas are in the abdomen, 12% are found in the chest, and only about 3% are in the head and neck. This figure shows where paraganglioma can be found. Paragangliomas in the head and neck are less likely to be metastatic than tumors in the chest, abdomen and pelvis. […] 30-40% of pheochromocytomas and paragangliomas are hereditary. If you are diagnosed with paraganglioma talk to your doctor about genetic testing. […] All paraganglioma have the potential to become metastatic, or spread to other parts of the body. This happens in approximately 15-25% of cases.

• #6 Paraganglioma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/paraganglioma-1?embed_domain=hackmd.io%252525252F%2525252540yipuafecsl2jsu8smr5njq%252525252Fbnjhjgjghjghjghradiopaedia-icon-144.png&lang=us

  Sporadic paragangliomas are typically diagnosed between the ages of 30 to 50 and predominantly affect women with a female-to-male ratio of 3 to 1. In contrast, hereditary-type paragangliomas are usually diagnosed younger, with an equal male-to-female ratio. […] Hereditary paragangliomas are related to a variety of mutations and can be part of a number of clinical syndromes. […] The incidence of various tumors in the pheochromocytoma/paraganglioma group is far from even with sympathetic paragangliomas accounting for the majority of all paragangliomas and pheochromocytomas being by far the most common in that subgroup. […] Risk of malignancy: pheochromocytoma: 10%, sympathetic paraganglioma: 20%, parasympathetic paraganglioma: 2-20%.

• #7 Orphanet: Pheochromocytoma-paraganglioma

  https://www.orpha.net/en/disease/detail/573163

  Pheochromocytomas and paragangliomas (PPGL) are rare, occurring in 0.1 to 0.6% of patients with hypertension and 5% with adrenal incidentaloma. The incidence is approximately 0.57 per 100,000 person-years (0.46 for pheochromocytomas and 0.11 for paragangliomas). […] About 40% of PPGL occur in the context of an autosomal inherited syndrome. More than 15 predisposing genes have been identified (SDHA, SDHB, SDHC, SDHD, RET, VHL, NF1, TMEM127, MAX, FH…). About 60% are sporadic but up to 30% of sporadic tumors actually carry somatic mutations in these known susceptibility genes. […] Genetic testing is recommended for all patients diagnosed with PPGL because 40% of cases occur in the context of an autosomal inherited syndrome. Moreover, patient follow-up is adapted according to the mutated gene (for example, intensive follow-up for SDHB mutation because the risk of malignancy is increased). It is also important to offer screening to first-degree relatives of mutation-carriers.

• #8 CME Activity: Hereditary Pheochromocytoma and Paraganglioma: Strategies for Screening and Surveillance – Pheo Para Alliance

  https://pheopara.org/2021/09/cme-activity-hereditary-pheochromocytoma-and-paraganglioma-strategies-for-screening-and-surveillance

  Pheochromocytomas are catecholamine-secreting neuroendocrine tumors. […] A key feature is that up to 40% are hereditary, and in children, that number is even higher, with up to 80% being hereditary. All patients who develop pheochromocytoma and or paraganglioma should be offered genetic testing since up to 40% have a hereditary susceptibility gene, pathogenic variant, or mutation. […] we hope to provide clinicians with information on hereditary paraganglioma-pheochromocytoma syndrome, the significance of mutations and associated tumor risks, surveillance recommendations and best practices on how to manage patients with the germline mutations who are MIBG avid/not avid.

• #9 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. […] Although the 10s rule, which Graham defined in 1951 for PPGL, describing 10% extradrenal, 10% bilateral, and 10% malignancy, is still included in many textbooks, it has expired today. […] The incidence of PPGL ranges between 2 and 8 per million, with a prevalence between 1:2500 and 1:6500. The annual incidence in the USA is approximately 500-1600 cases per year, which is lower than the prevalence of PPGL (0.05-0.1%) detected in the autopsy series incidentally.

• #10 Paraganglioma – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/paraganglioma

  Approximately 35-50% of paragangliomas may spread to other parts of the body. […] Paraganglioma is rare and it is estimated that only 2 people out of every 1 million people have paraganglioma. It is most often found in people aged 30 to 50 years old. […] Patients with a small paraganglioma that has not spread to other parts of the body have a five-year survival rate of about 95%. Patients with paraganglioma that has grown back (recurred) or spread to other parts of the body have a five-year survival rate between 34% and 60%.

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

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

  Pheochromocytomas and extra-adrenal paragangliomas are rare tumors arising from neural crest tissue that develops into sympathetic and parasympathetic paraganglia throughout the body. […] 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. […] 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%. […] 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.

• #12 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. […] Carriers of pathogenic or likely pathogenic variants should have surveillance arranged through a clinical genetics service, endocrinologist or, if available, an MDT clinic.

• #13 Inherited phaeochromocytoma and paraganglioma — Knowledge Hub

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

  Recommended surveillance for carriers of constitutional variants in different genes associated with PCC/PGL risk depend on the gene in which the variant has been identified, and may be influenced by personal/family history and parent from which variant has been inherited. […] PGL and PCC identified through surveillance should generally be treated in the same way as those in the general population, and often will require a multidisciplinary approach.

• #14 International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-021-00492-3

  An important proportion of tumours, especially SDHx-related and/or head and neck paragangliomas arising from the parasympathetic system, do not secrete or even produce catecholamines. […] Therefore, one initial screening is not sufficient and these individuals should be followed up. […] This risk has led experts to consider that follow-up is mandatory in asymptomatic carriers of an SDHx mutation. […] The expert committee recommends that all SDHx mutation carriers should have an annual outpatient follow-up examination during both childhood and adulthood. […] Even after an initial negative work-up, all asymptomatic mutation carriers should be clinically followed up every year, by biochemical assessments every 2 years and by MRI every 2-3 years. […] The experts insisted on the fact that the risk of metastatic progression is more important in SDHB asymptomatic mutation carriers than for the other genes as many retrospective studies showed a higher risk of metastatic disease and shorter survival in patients with an SDHB mutation than in patients with other SDHx mutations.

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

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

  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.

• #16 Less is More: Study Discourages Overuse of Imaging in Paraganglioma Surveillance

  https://consultqd.clevelandclinic.org/less-is-more-study-discourages-overuse-of-imaging-in-paraganglioma-surveillance

  While there are conflicting guidelines from medical associations on how to follow head and neck paraganglioma patients, data from this study directly opposes opinion-based recommendations of the European Society of Endocrinology, which recommends repeated imaging every one to two years for at least 10 years. […] Repeat imaging is not without risks, and should be balanced with potential benefits, Dr. Contrera notes. […] The authors note that the frequency of surveillance imaging of the head and neck is multifaceted, but should take recurrence or progression of the primary tumor into consideration. […] Future studies are needed to validate these findings in a prospective setting and to better understand the genetic characteristics of head and neck paragangliomas. […] In the era of financial stewardship, we hope this research helps shift oncologic surveillance towards evidence-based care, says Dr. Lorenz.

• #17 Paragangliomas of the Head and Neck: A Review of the Latest Diagnostic and Treatment Methods

  https://www.mdpi.com/1648-9144/60/6/914

  General recommendations encourage the use of 68Ga-DOTATE PET/CT examination, in place of 18F-FDA PET/CT or 18F-DOPA PET. […] Prolonged surveillance is mandatory. The British Skull Base Society proposes an MRI scan every 6 months initially, with an annual re-examination. […] There is no general consensus on the duration of surveillance. The British Skull Base Society recommends radiological scanning early in the first 3 years followed by reduced intervals, while the European Society of Endocrinology advises a 10-year minimum period, with lifelong observation for patients with risk factors or with genetic predisposition.

• #18 Less is More: Study Discourages Overuse of Imaging in Paraganglioma Surveillance

  https://consultqd.clevelandclinic.org/less-is-more-study-discourages-overuse-of-imaging-in-paraganglioma-surveillance

  In the largest study of its kind, Cleveland Clinic surgeons published their research in Head Neck that demonstrates the incidence of second primary paragangliomas in the head and neck and provides new recommendations on clinical surveillance. […] Paragangliomas are rare, slow-growing tumors in the neck, chest, abdomen or pelvis that occur in one in 30,000 to 100,000 people. […] There was minimal data on the management of head and neck paragangliomas after treatment, and imaging surveillance guidelines are inconsistent, he says. […] The incidence of a second paraganglioma in the chest, abdomen or pelvis was 2.59 per 1,000 person years, meaning a patient would, on average, require 380 years of repeat imaging to find one additional paraganglioma. […] Based on these findings, the authors recommend against the use of routine imaging of the chest, abdomen or pelvis for patients without hereditary paraganglioma.

• #19

  https://link.springer.com/article/10.1007/s10689-016-9923-3

  Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required. […] Because of increased risk of developing HNPGLs, sympathetic PGLs and PCC, SDHB mutation carriers require regular surveillance, which consists of determination of plasma and/or urine metanephrines and performance of magnetic resonance imaging (MRI) at regular intervals. […] Until today, no international consensus has been developed regarding the optimal mode of surveillance for SDHB mutation carriers. […] The optimal age to start surveillance with subsequent intervals was calculated for HNPGLs. […] Therefore the chance to detect a HNPGL is 10, 5 or 1 % when using an interval van 6.6, 3.2 or 0.6 years respectively.

• #20

  https://link.springer.com/article/10.1007/s10689-016-9923-3

  Our results suggest that the screening for HNPGL in SDHB mutation carriers might as well start at 27 years instead of 18 years. […] The optimal surveillance interval was set at 5 % detection probability which results in an interval of 3.2 years. […] These results may give rise to reconsider the current guidelines regarding the screening of SDHB mutation carriers.

• #21 Paraganglioma Symptoms, Treatment, Diagnosis & More

  https://pheopara.org/education/paraganglioma

  It is highly recommended for metastatic patients to receive treatment from an experienced, multi-disciplinary pheo para team. In addition, everyone who has metastatic para should have genetic testing. Knowing your genetic status will help your medical team determine an appropriate course of treatment. […] There are currently no cures for metastatic paraganglioma. However, existing treatment options may reduce the tumors and prolong survival. Some patients live for decades with metastatic paraganglioma. The prognosis is highly variable and is dependent upon the size of the primary tumor (tumors larger than 5-6 cm are more likely to metastasize), levels of methoxytyramine (a metabolite of the neurotransmitter dopamine which can be measured in the blood), and genetic status. […] Treatment of metastatic para can include surgery, MIBG therapy, PRRT therapy (Lutathera), chemotherapy, and others.

• #22 Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-023-00926-0

  Adult and paediatric patients with pathogenic variants in the gene encoding succinate dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or metastatic phaeochromocytomas and paragangliomas (PPGLs). Furthermore, SDHB PPGLs have the highest rates of disease-specific morbidity and mortality compared with other hereditary PPGLs. […] The SDHB pathogenic variants have an estimated disease penetrance of 20-30% by the age of 65 years. […] Among patients with SDHB pathogenic variants who develop PPGL (syndrome type 4), 70-80% of tumours are sympathetic (mainly extra-adrenal) paragangliomas. […] However, the recurrence rate of SDHB PPGLs is high. These tumours are also at high risk of aggressive behaviour, with at least 30% of patients developing metastatic disease. […] Patients with SDHB PPGLs present with increases in plasma and/or urine levels of noradrenaline, predominantly of its metabolite normetanephrine. Importantly, an elevation of dopamine levels, and particularly of its metabolite 3-methoxytyramine, is often also observed.

• #23 Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers in: Endocrine Connections Volume 11 Issue 2 (2022)

  https://ec.bioscientifica.com/view/journals/ec/11/2/EC-21-0602.xml

  Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited evidence for optimal surveillance strategies in hereditary PPGL. […] Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance. […] Current guidelines recommend genetic testing where a heritable cause is suspected, such as in bilateral adrenal disease, extra-adrenal PGLs, metastatic disease or positive family history; however, there is a growing evidence base to advocate genetic screening in all PPGL cases.

• #24 Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers in: Endocrine Connections Volume 11 Issue 2 (2022)

  https://ec.bioscientifica.com/view/journals/ec/11/2/EC-21-0602.xml

  Given the limited evidence base underlying screening recommendations, further penetrance and longitudinal analyses of tumour development are needed to ensure adequate tumour detection in asymptomatic SDHx pathogenic variant carriers, whilst minimising radiation exposure and patient burden. […] We conclude that an appropriate surveillance strategy is imperative following the diagnosis of germline SDHx pathogenic variant with or without PPGL. The burden of disease is significant at first screen (16.4% in SDHB and 54% in SDHD) in our cohort. Appropriate imaging helps in early detection of the disease before plasma metanephrines become measurable in the circulation. Hence we also advocate plasma metanephrines over urine measurement in SDHx disease.

• #25 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. […] Although there are established guidelines to guide surveillance for syndromic (VHL, NF1, and MEN2) PGL/PCC cases, there is not yet a clear consensus for screening carriers of mutations in lower-frequency susceptibility genes, which leaves variance in screening practices based on expert opinion.

• #26 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/

  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. […] It is our view that all patients with germline mutations associated with PGL/PCC should undergo genetic counseling regarding familial risk, and that predictive testing of asymptomatic family members be performed when a familial mutation has been identified. Early tumor detection facilitates surgical excision, reduces perioperative morbidity, and can prevent malignant transformation and metastasis. […] These considerations should be incorporated into routine care protocols for patients who have presented with a PGL or PCC.

• #27 Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-023-00926-0

  Considering the complex landscape of management options for PPGL arising within the context of SDHB pathogenic variants, the current Consensus statement seeks to assist physicians in navigating the clinical decision-making process for the treatment of patients with an existing PPGL. […] The initial screening and follow-up of patients with asymptomatic SDHB pathogenic variants have been addressed in another international Consensus statement. […] The management and treatment of patients with SDHB PPGLs pose a challenge to clinicians in many disciplines. These tumours are heterogeneous and can manifest in many organs with high rates of recurrence, local aggressive growth and metastasis over time. […] This approach also facilitates personalized tailoring of management in specific clinical situations, including plans for individualized surveillance and follow-up. […] The frequency of follow-up and serial imaging is guided by the size of the primary tumour (or tumours), tumour location, and the success of the initial surgery or other types of non-surgical interventions.

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