Materiały źródłowe

• #1 Management of Advanced Systemic Mastocytosis: Clinical Challenges | JBM

  https://www.dovepress.com/management-of-advanced-systemic-mastocytosis-clinical-challenges-peer-reviewed-fulltext-article-JBM

  Systemic mastocytosis (SM) encompasses a diverse group of diseases involving neoplastic mast cells (MCs) that span a disease spectrum from indolent SM (ISM), which also includes a smoldering form (SSM), to an advanced form (AdvSM) that compromises life span. The incidence of approximately 1.5 cases per 100,000 and a prevalence of 25 cases per 100,000 population.1 […] The KITD816V mutation is present in the vast majority of AdvSM patients and its allele burden is significantly higher in patients with AdvSM as compared to patients with ISM or SSM.12 […] One registry-based study reviewed 2607 patients enrolled within the European Competence Network on Mastocytosis (ECNM) and 575 patients enrolled within the German Registry on Eosinophils and Mast cells (GRM). This study found that many patients with AdvSM are misdiagnosed or experience delayed diagnosis especially if patients lack skin involvement or MC mediator-related symptoms during presentation. This study identified the following serum parameters as the most relevant: tryptase, alkaline phosphatase, B2-microglobulin, lactate dehydrogenase, albumin, vitamin B12 and C-reactive protein and concluded that serum chemistry profiling is crucial for diagnosis and prognostication.36

• #2 Orphanet: Systemic mastocytosis

  https://www.orpha.net/en/disease/detail/2467

  The prevalence in Europe is estimated between 1/7,700 and 1/10,400. Systemic mastocytosis (SM) preferentially affects Caucasians and there is no sex predominance. […] SM is mainly observed in adults (average age at diagnosis is 60 years) and is very rare in the pediatric population. […] The disease is then categorized, as described above, according to the presence of B-findings and C-findings. […] Prognosis depends on the type of SM.

• #3 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  Systemic mastocytosis is estimated to occur in 1 per 10,000 to 20,000 individuals worldwide. […] Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

• #4 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Systemic-Mastocytosis.aspx

  Systemic mastocytosis has an estimated prevalence of 1 in 10,000 to 20,000 worldwide. […] Clinical and hybrid clinical-molecular risk models have recently been developed to better predict prognosis in SM patients.

• #5 Epidemiology of mastocytosis: a population-based study (Sweden) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38380845/

  Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. […] We identified 2,040 adults with a mastocytosis diagnosis yielding an annual incidence of 1.56 per 100,000 (95% CI 1.29-1.87) and a prevalence of 23.9 per 100,000 (95% CI 22.8-25.0). The comorbidity burden was higher, and the OS lower, in patients with mastocytosis compared to comparators. […] We found a higher incidence and prevalence of mastocytosis compared to assessments in other settings and confirmed that the prognosis generally is favorable. Of special note was evidence of a higher comorbidity burden in mastocytosis patients compared to the background population.

• #6

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  Mastocytosis is a group of rare heterogeneous diseases with a prevalence previously found to be 1023 per 100,000 persons. […] Here, we set out to present the prevalence and incidence rate of mastocytosis among the adult Danish population. […] The prevalence of mastocytosis was 27.43 per 100,000 persons (95% confidence interval [CI]: 25.95-28.96) as of January 1, 2022, and the 25-year average incidence rate between 1997 and 2021 was 1.21 per 100,000 persons (95%CI: 1.02-1.40) with an increasing incidence rate since 2002. […] We found a higher prevalence of mastocytosis among adults in the Danish population than previously reported, and an increasing incidence rate during the last 20 years. […] The prevalence of mastocytosis in Denmark as of January 1, 2022, was 27.43 per 100,000 (95% confidence interval (CI): 25.95-28.96). […] The average incidence rate of mastocytosis between 1997 and 2021 was 1.21 per 100,000 (95% CI: 1.02-1.40) with an increasing yearly incidence rate since 2002.

• #7 Clinical Outcomes of Adults with Systemic Mastocytosis: A 15-Year Multidisciplinary Experience

  https://www.mdpi.com/2072-6694/14/16/3942

  Systemic mastocytosis (SM) is a rare, clonal, clinically heterogeneous disorder of the mast cells (MCs), and mainly affects adults. […] The prevalence of SM in the adult population of the Stockholm region was estimated to be 10.6/100,000 inhabitants, and the mean incidence of SM cases in the Stockholm region was 0.77/100,000 people per year. […] The estimated prevalence of SM in adults is approximately 10–13 in 100,000 residents in European countries. […] The prevalence of SM in the adult population of the Stockholm region was 10.6 per 100,000 inhabitants during the study period. Likewise, we roughly estimated the mean incidence of new SM diagnosis/year in the Stockholm region, and found it to be 0.77 per 100,000 people per year.

• #8

  https://haematologica.org/article/view/7840

  Systemic mastocytosis is a heterogeneous disease characterized by the accumulation of neoplastic mast cells in the bone marrow and other organ organs/tissues. […] The exact incidence of SM remains uncertain, but a prevalence of mastocytosis including all the subtypes is estimated to be approximately 1 in 10,000 people. […] A recent study from Denmark showed the incidence rate for all SM, including CM, was 0.89 per 100,000/year. […] Most adult patients present with indolent SM (ISM), which is mainly characterized by mediator-related symptoms, frequent skin involvement, no organ dysfunction and a nearly normal life expectancy. […] By contrast, in advanced variants of the disease (AdvSM), including SM with an associated clonal hematologic non-MC lineage disease (SM-AHNMD; recently updated to systemic mastocytosis with an associated hematological neoplasm (SM-AHN) by WHO), aggressive SM (ASM), and mast cell leukemia (MCL), the malignant expansion and accumulation of neoplastic MCs can lead to organ damage (C-findings, Online Supplementary Table S2).

• #9 Comprehensive mastocytosis data analysis from a single center | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-022-10498-3

  Mastocytosis is a rare disease with diverse presentation and variable prognosis, characterized by clonal mast cell proliferation. It is considered to be an orphan disease, and there is the limited number of epidemiological studies. In a Danish study, the overall incidence of systemic mastocytosis (SM) was 0.9 per 100,000 per year, and more than 80% of these patients were diagnosed with indolent systemic mastocytosis (ISM) […] In another study, the prevalence of ISM in the adult population in the Netherlands has been estimated to be 13 cases per 100,000 inhabitants. […] In a study from Germany, the incidence and prevalence of patients with advanced systemic mastocytosis were 0.9 and 7 per 1 million inhabitants, respectively. […] In a Swedish study, the incidence was 0.77/100.000 people per year. It is seen at similar frequencies in different populations with an increase in awareness.

• #10 Comprehensive mastocytosis data analysis from a single center | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-022-10498-3

  Mastocytosis is a rare disease with diverse presentation and variable prognosis, characterized by clonal mast cell proliferation. It is considered to be an orphan disease, and there is the limited number of epidemiological studies. In a Danish study, the overall incidence of systemic mastocytosis (SM) was 0.9 per 100,000 per year, and more than 80% of these patients were diagnosed with indolent systemic mastocytosis (ISM) […] In another study, the prevalence of ISM in the adult population in the Netherlands has been estimated to be 13 cases per 100,000 inhabitants. […] In a study from Germany, the incidence and prevalence of patients with advanced systemic mastocytosis were 0.9 and 7 per 1 million inhabitants, respectively. […] In a Swedish study, the incidence was 0.77/100.000 people per year. It is seen at similar frequencies in different populations with an increase in awareness.

• #11 Orphanet: Systemic mastocytosis

  https://www.orpha.net/en/disease/detail/2467

  The prevalence in Europe is estimated between 1/7,700 and 1/10,400. Systemic mastocytosis (SM) preferentially affects Caucasians and there is no sex predominance. […] SM is mainly observed in adults (average age at diagnosis is 60 years) and is very rare in the pediatric population. […] The disease is then categorized, as described above, according to the presence of B-findings and C-findings. […] Prognosis depends on the type of SM.

• #12 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  A slight male preponderance in the incidence of mastocytosis is noted. Mastocytosis is more common in children than in adults, and it is usually transient and self-limited in children compared with the adult version. Onset is before age 2 years in 55% of patients and is from 2 and 15 years in 10% of patients. […] In adults, the median age at diagnosis of systemic mastocytosis is 55 years. Lim et al reported that patients with indolent systemic mastocytosis were younger and symptomatic for a longer duration of time as compared with patients with ASM or SM-AHNMD.

• #13 Mastocytosis

  http://hemepathreview.com/WHO-Review/Outline/Chapter11.htm

  Mastocytosis may occur at any age. […] Systemic mastocytosis is generally diagnosed after the third decade of life; the male to female ratio has been reported to vary from 1 to 1:3. […] In up to 20-30% of cases of SM, an associated, clonal hematopoietic, non-mast cell lineage disorder (AHNMD) may be discovered simultaneously or after the diagnosis of mastocytosis.

• #14 Orphanet: Systemic mastocytosis

  https://www.orpha.net/en/disease/detail/2467

  The prevalence in Europe is estimated between 1/7,700 and 1/10,400. Systemic mastocytosis (SM) preferentially affects Caucasians and there is no sex predominance. […] SM is mainly observed in adults (average age at diagnosis is 60 years) and is very rare in the pediatric population. […] The disease is then categorized, as described above, according to the presence of B-findings and C-findings. […] Prognosis depends on the type of SM.

• #15 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  A slight male preponderance in the incidence of mastocytosis is noted. Mastocytosis is more common in children than in adults, and it is usually transient and self-limited in children compared with the adult version. Onset is before age 2 years in 55% of patients and is from 2 and 15 years in 10% of patients. […] In adults, the median age at diagnosis of systemic mastocytosis is 55 years. Lim et al reported that patients with indolent systemic mastocytosis were younger and symptomatic for a longer duration of time as compared with patients with ASM or SM-AHNMD.

• #16 Orphanet: Systemic mastocytosis

  https://www.orpha.net/en/disease/detail/2467

  The prevalence in Europe is estimated between 1/7,700 and 1/10,400. Systemic mastocytosis (SM) preferentially affects Caucasians and there is no sex predominance. […] SM is mainly observed in adults (average age at diagnosis is 60 years) and is very rare in the pediatric population. […] The disease is then categorized, as described above, according to the presence of B-findings and C-findings. […] Prognosis depends on the type of SM.

• #17 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Systemic mastocytosis is a rare disorder with unknown incidence. It affects males and females equally. […] Systemic mastocytosis accounts for more than 95 percent of the adult cases and usually persists for a longer time.

• #18 Diagnosis and treatment of systemic mastocytosis in Brazil: Recommendations of a multidisciplinary expert panel | Hematology, Transfusion and Cell Therapy

  http://www.htct.com.br/en-diagnosis-treatment-systemic-mastocytosis-in-articulo-S2531137922000803

  It is estimated that most adult patients with mastocytosis have SM, but that isolated cutaneous disease is more prevalent in pediatric patients. […] The SM should always be suspected and investigated in adult patients with cutaneous disease. […] A bone marrow biopsy is rarely performed for children, but a recent review suggests that the systemic involvement should be investigated in selected cases. […] Recommendation: Cutaneous Mastocytosis should be diagnosed only after the dermatological clinical evaluation, anatomopathological examination and exclusion of Systemic Mastocytosis criteria (GRADE 1). […] Recommendation: Tryptase level measurements are necessary for the Systemic Mastocytosis diagnosis and follow-up (GRADE 2) at least once a year (GRADE 5). […] Recommendation: Doppler abdominal ultrasound should be performed for all patients with Systemic Mastocytosis to evaluate hepatomegaly, portal hypertension and ascites (GRADE 3).

• #19 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The aim of the study was to explore how persons with systemic mastocytosis (SM) described the time between the onset of symptoms and signs and getting the diagnosis. […] SM is a rare disease with an incidence just under one person in 100 000. […] Prolonged timespan between the first symptoms and diagnosis is common for these patients. […] The diagnosis is determined by a pathological bone marrow sample, mutation D816V in the KIT gene and elevated serum total tryptase. […] In the diagnosis process, a multi-disciplinary investigation is often needed. General practitioners are important to identify and refer patients relevant for such investigations. […] The debut of symptoms and signs often occur between the ages of 20 and 50 years, although the diagnosis is most commonly confirmed between the ages of 40 and 60 years.

• #20 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  A slight male preponderance in the incidence of mastocytosis is noted. Mastocytosis is more common in children than in adults, and it is usually transient and self-limited in children compared with the adult version. Onset is before age 2 years in 55% of patients and is from 2 and 15 years in 10% of patients. […] In adults, the median age at diagnosis of systemic mastocytosis is 55 years. Lim et al reported that patients with indolent systemic mastocytosis were younger and symptomatic for a longer duration of time as compared with patients with ASM or SM-AHNMD.

• #21 Orphanet: Indolent systemic mastocytosis

  https://www.orpha.net/en/disease/detail/98848

  Indolent SM (ISM) represents 90% of all cases of SM for which the prevalence in Europe is estimated between 1/7,700 and 1/10,400. […] The evolution of ISM and of BMM is slow and benign. The prognosis is generally good and life expectancy is similar to that of the general population. However, some of these patients may finally progress to SSM, SM-AHN, ASM or even MCL; multilineage KIT D816V involvement is probably the most important prognostic criterion for progression of ISM to more advanced SM subtypes.

• #22 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adult patients fit into the indolent systemic mastocytosis category. While they may be symptomatic, indolent systemic mastocytosis patients generally have low morbidity and normal life expectancy not different from their peers. […] Smoldering systemic mastocytosis patients have an inferior survival compared to indolent systemic mastocytosis, but the advanced age of those patients account for most of the difference. […] Aggressive systemic mastocytosis patients have more significant symptoms, including enlarged liver and lymph nodes, as well as blood abnormalities such as anemia and low platelets. […] Patients with systemic mastocytosis with an associated hematologic neoplasm suffer from additional problems caused by the associated blood malignancy.

• #23

  https://haematologica.org/article/view/7840

  Systemic mastocytosis is a heterogeneous disease characterized by the accumulation of neoplastic mast cells in the bone marrow and other organ organs/tissues. […] The exact incidence of SM remains uncertain, but a prevalence of mastocytosis including all the subtypes is estimated to be approximately 1 in 10,000 people. […] A recent study from Denmark showed the incidence rate for all SM, including CM, was 0.89 per 100,000/year. […] Most adult patients present with indolent SM (ISM), which is mainly characterized by mediator-related symptoms, frequent skin involvement, no organ dysfunction and a nearly normal life expectancy. […] By contrast, in advanced variants of the disease (AdvSM), including SM with an associated clonal hematologic non-MC lineage disease (SM-AHNMD; recently updated to systemic mastocytosis with an associated hematological neoplasm (SM-AHN) by WHO), aggressive SM (ASM), and mast cell leukemia (MCL), the malignant expansion and accumulation of neoplastic MCs can lead to organ damage (C-findings, Online Supplementary Table S2).

• #24 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  Classification of SM can also be a challenge. […] The distinguishing feature of SM is the penetration of MCs into internal organs including the BM at multiple locations within the organ or organs. […] As DeAngelo explained, to diagnose SM according to the WHO, you have to have 1 major and 1 minor or 3 minor criteria. […] The major criterion is multifocal clusters of at least 15 MCs per cluster in 1 or more visceral organs. […] The WHO defines most of these SM classifications according to the presence or absence of B findings (that indicate high MC burden across multiple organs or the blood but without organ damage) and C findings. […] SM-AHN is sometimes considered an AdvSM and otherwise considered as additional to 1 of the other 4 classifications. […] As AdvSM has a poor prognosis, as SM-AHN accounts for 70% to 80% of all patients with AdvSM (if considered an AdvSM), and as SM-AHN is the most heterogenous SM subtype, diagnosing according to MARS may improve AdvSM outcomes.

• #25 Mastocytosis

  http://hemepathreview.com/WHO-Review/Outline/Chapter11.htm

  Mastocytosis may occur at any age. […] Systemic mastocytosis is generally diagnosed after the third decade of life; the male to female ratio has been reported to vary from 1 to 1:3. […] In up to 20-30% of cases of SM, an associated, clonal hematopoietic, non-mast cell lineage disorder (AHNMD) may be discovered simultaneously or after the diagnosis of mastocytosis.

• #26 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The aim of the study was to explore how persons with systemic mastocytosis (SM) described the time between the onset of symptoms and signs and getting the diagnosis. […] SM is a rare disease with an incidence just under one person in 100 000. […] Prolonged timespan between the first symptoms and diagnosis is common for these patients. […] The diagnosis is determined by a pathological bone marrow sample, mutation D816V in the KIT gene and elevated serum total tryptase. […] In the diagnosis process, a multi-disciplinary investigation is often needed. General practitioners are important to identify and refer patients relevant for such investigations. […] The debut of symptoms and signs often occur between the ages of 20 and 50 years, although the diagnosis is most commonly confirmed between the ages of 40 and 60 years.

• #27 Management of Advanced Systemic Mastocytosis: Clinical Challenges | JBM

  https://www.dovepress.com/management-of-advanced-systemic-mastocytosis-clinical-challenges-peer-reviewed-fulltext-article-JBM

  Systemic mastocytosis (SM) encompasses a diverse group of diseases involving neoplastic mast cells (MCs) that span a disease spectrum from indolent SM (ISM), which also includes a smoldering form (SSM), to an advanced form (AdvSM) that compromises life span. The incidence of approximately 1.5 cases per 100,000 and a prevalence of 25 cases per 100,000 population.1 […] The KITD816V mutation is present in the vast majority of AdvSM patients and its allele burden is significantly higher in patients with AdvSM as compared to patients with ISM or SSM.12 […] One registry-based study reviewed 2607 patients enrolled within the European Competence Network on Mastocytosis (ECNM) and 575 patients enrolled within the German Registry on Eosinophils and Mast cells (GRM). This study found that many patients with AdvSM are misdiagnosed or experience delayed diagnosis especially if patients lack skin involvement or MC mediator-related symptoms during presentation. This study identified the following serum parameters as the most relevant: tryptase, alkaline phosphatase, B2-microglobulin, lactate dehydrogenase, albumin, vitamin B12 and C-reactive protein and concluded that serum chemistry profiling is crucial for diagnosis and prognostication.36

• #28 Systemic mastocytosis with flushing and hypotension: A case report and literature review

  https://www.spandidos-publications.com/10.3892/etm.2021.9835

  Systemic mastocytosis (SM) is not common and has been reported with an incidence of 13 in 100,000 people; however, the real prevalence may be higher because of underdiagnosis. […] In patients without skin lesions, mastocytosis is frequently misdiagnosed as another disease, such as anaphylaxis, or may even remain unidentified. […] The present study reported on a case of SM, which may increase the awareness of clinicians of this disease. […] The final diagnosis of the present case was inert SM, MCAS and increased excitability of the vasovagal nerve, all of which contributed to the flushing and hypotension status in the present case. […] The prognosis of different subtypes of SM is significantly different from that of indolent life-threatening diseases. […] The prognosis of ISM is relatively good, with a median survival time of 198 months, which exhibits no significant difference between patients with ISM and healthy controls.

• #29 Mastocytosis – Wikipedia

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

  The true incidence and prevalence of mastocytosis is unknown, but mastocytosis generally has been considered to be an „orphan disease”; orphan diseases affect 200,000 or fewer people in the United States. Mastocytosis, however, often may be misdiagnosed, as it typically occurs secondary to another condition, and thus may occur more frequently than assumed.

• #30 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  Classification of SM can also be a challenge. […] The distinguishing feature of SM is the penetration of MCs into internal organs including the BM at multiple locations within the organ or organs. […] As DeAngelo explained, to diagnose SM according to the WHO, you have to have 1 major and 1 minor or 3 minor criteria. […] The major criterion is multifocal clusters of at least 15 MCs per cluster in 1 or more visceral organs. […] The WHO defines most of these SM classifications according to the presence or absence of B findings (that indicate high MC burden across multiple organs or the blood but without organ damage) and C findings. […] SM-AHN is sometimes considered an AdvSM and otherwise considered as additional to 1 of the other 4 classifications. […] As AdvSM has a poor prognosis, as SM-AHN accounts for 70% to 80% of all patients with AdvSM (if considered an AdvSM), and as SM-AHN is the most heterogenous SM subtype, diagnosing according to MARS may improve AdvSM outcomes.

• #31 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adults with systemic mastocytosis have infiltration of one or more internal organs with abnormal mast cells and can present with or without cutaneous mastocytosis. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria. […] In addition to the initial diagnosis, systemic mastocytosis is divided into subtypes determined by findings such as the amount of organ infiltration by mast cells (mast cell burden), presence or absence of other blood malignancies, and organ involvement with mast cell related damage such as enlarged liver, spleen or lymph nodes, or bone damage.

• #32 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  Classification of SM can also be a challenge. […] The distinguishing feature of SM is the penetration of MCs into internal organs including the BM at multiple locations within the organ or organs. […] As DeAngelo explained, to diagnose SM according to the WHO, you have to have 1 major and 1 minor or 3 minor criteria. […] The major criterion is multifocal clusters of at least 15 MCs per cluster in 1 or more visceral organs. […] The WHO defines most of these SM classifications according to the presence or absence of B findings (that indicate high MC burden across multiple organs or the blood but without organ damage) and C findings. […] SM-AHN is sometimes considered an AdvSM and otherwise considered as additional to 1 of the other 4 classifications. […] As AdvSM has a poor prognosis, as SM-AHN accounts for 70% to 80% of all patients with AdvSM (if considered an AdvSM), and as SM-AHN is the most heterogenous SM subtype, diagnosing according to MARS may improve AdvSM outcomes.

• #33 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The aim of the study was to explore how persons with systemic mastocytosis (SM) described the time between the onset of symptoms and signs and getting the diagnosis. […] SM is a rare disease with an incidence just under one person in 100 000. […] Prolonged timespan between the first symptoms and diagnosis is common for these patients. […] The diagnosis is determined by a pathological bone marrow sample, mutation D816V in the KIT gene and elevated serum total tryptase. […] In the diagnosis process, a multi-disciplinary investigation is often needed. General practitioners are important to identify and refer patients relevant for such investigations. […] The debut of symptoms and signs often occur between the ages of 20 and 50 years, although the diagnosis is most commonly confirmed between the ages of 40 and 60 years.

• #34 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  Classification of SM can also be a challenge. […] The distinguishing feature of SM is the penetration of MCs into internal organs including the BM at multiple locations within the organ or organs. […] As DeAngelo explained, to diagnose SM according to the WHO, you have to have 1 major and 1 minor or 3 minor criteria. […] The major criterion is multifocal clusters of at least 15 MCs per cluster in 1 or more visceral organs. […] The WHO defines most of these SM classifications according to the presence or absence of B findings (that indicate high MC burden across multiple organs or the blood but without organ damage) and C findings. […] SM-AHN is sometimes considered an AdvSM and otherwise considered as additional to 1 of the other 4 classifications. […] As AdvSM has a poor prognosis, as SM-AHN accounts for 70% to 80% of all patients with AdvSM (if considered an AdvSM), and as SM-AHN is the most heterogenous SM subtype, diagnosing according to MARS may improve AdvSM outcomes.

• #35 Indolent Systemic Mastocytosis Poses a Significant Quality of Life Burden – Indolent Systemic Mastocytosis

  https://www.medpagetoday.com/resource-centers/indolent-systemic-mastocytosis/indolent-systemic-mastocytosis–poses-significant-quality-life-burden/5679

  The burden of indolent systemic mastocytosis (ISM) is comparable to such diseases as lymphoma, leukemia, and psoriasis, according to a study of the physical and emotional consequences measured with the disability-adjusted life year (DALY) tool. […] The DALY scores of disease burden were commensurate with many serious disorders, including lymphoma and leukemia, data that support referral of patients with mastocytosis to specialist centers. […] Patient data were drawn from a database at Toulouse University Hospital in France, where a reference center for rare mastocytosis diseases has been created to capture demographics and outcomes for all cases. […] The study population included 168 ISM patients with a mean age of 56.1 years. […] Ultimately, the DALY scores of disease burden were commensurate with many serious disorders, including lymphoma and leukemia, according to Dr. Mouni. While he and his coinvestigators plan further studies, he said these data support referral of patients with mastocytosis to specialist centers.

• #36 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The aim of the study was to explore how persons with systemic mastocytosis (SM) described the time between the onset of symptoms and signs and getting the diagnosis. […] SM is a rare disease with an incidence just under one person in 100 000. […] Prolonged timespan between the first symptoms and diagnosis is common for these patients. […] The diagnosis is determined by a pathological bone marrow sample, mutation D816V in the KIT gene and elevated serum total tryptase. […] In the diagnosis process, a multi-disciplinary investigation is often needed. General practitioners are important to identify and refer patients relevant for such investigations. […] The debut of symptoms and signs often occur between the ages of 20 and 50 years, although the diagnosis is most commonly confirmed between the ages of 40 and 60 years.

• #37 About Systemic Mastocytosis | Blueprint Medicines

  https://itssmthing.com/about-sm.php

  Systemic mastocytosis (pronounced mass-toe-sigh-TOE-sis), or SM for short, is a rare disease estimated to occur in approximately 32,000 people in the U.S. It is caused by an overproduction of abnormal mast cells (a type of white blood cell). […] SM is a rare disease and the true incidence rates are unknown, though it is estimated that approximately 32,000 people in the U.S. may be living with SM (or 0.01% of the population). […] The management of SM may require doctors across many specialties, such as allergists/ immunologists, dermatologists, gastroenterologists, or hematologists/oncologists, depending on the symptoms present and type of SM.

• #38 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The time between symptom onset and getting a diagnosis has been reported as being easier to accept if healthcare professionals listen and are supportive, as well as being honest about lacking knowledge. […] The current study underlines the importance of listening carefully to the patients descriptions. When patients describe symptom clusters including some or all of the following; mild to severe gastrointestinal symptoms, pruritus, flushing and skin rashes, allergy with various triggers, recurrent syncope or anaphylaxis, declined cognitive ability or mood swings, general practitioners should consider referring these persons to specialist care for further investigation. […] The healthcare deficiency in diagnosing and supporting these persons highlights the importance of a person-centred approach and the need to increase knowledge of SM within healthcare, in order to shorten this stressful and vulnerable time.

• #39 Orphanet: Indolent systemic mastocytosis

  https://www.orpha.net/en/disease/detail/98848

  Indolent SM (ISM) represents 90% of all cases of SM for which the prevalence in Europe is estimated between 1/7,700 and 1/10,400. […] The evolution of ISM and of BMM is slow and benign. The prognosis is generally good and life expectancy is similar to that of the general population. However, some of these patients may finally progress to SSM, SM-AHN, ASM or even MCL; multilineage KIT D816V involvement is probably the most important prognostic criterion for progression of ISM to more advanced SM subtypes.

• #40 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adult patients fit into the indolent systemic mastocytosis category. While they may be symptomatic, indolent systemic mastocytosis patients generally have low morbidity and normal life expectancy not different from their peers. […] Smoldering systemic mastocytosis patients have an inferior survival compared to indolent systemic mastocytosis, but the advanced age of those patients account for most of the difference. […] Aggressive systemic mastocytosis patients have more significant symptoms, including enlarged liver and lymph nodes, as well as blood abnormalities such as anemia and low platelets. […] Patients with systemic mastocytosis with an associated hematologic neoplasm suffer from additional problems caused by the associated blood malignancy.

• #41 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  Survival in ISM is in most cases equal to that in the normal population. […] AdvSM leads to infiltration of mast cells in organs and causes organ impairment with symptoms such as, e.g., transaminitis, malabsorption and severe osteoporosis. […] The symptoms and signs can include, e.g., skin and gastrointestinal (GI) problems, cognitive disabilities, depression and life-threatening anaphylactic reactions. […] Since the disease can give rise to a variety of symptoms and signs and the time between symptom onset and diagnosis can be long, the persons wellbeing can be severely affected. […] Studies on the experiences of living with SM are still sparse and, to the best of our knowledge, no studies have focussed specifically on persons with ISM and AdvSM and their experiences before diagnosis.

• #42 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Systemic mastocytosis is an extremely rare disorder in the United States; the specific incidence has not been reported. Likewise, epidemiologic data on the incidence of systemic mastocytosis are lacking. Some studies in Great Britain showed two cases per year from a study population of 300,000. […] Systemic mastocytosis is a progressive neoplastic disorder that has no known curative therapy. Survival in patients with indolent systemic mastocytosis, with a median survival of 198 months, is not significantly different from the general population. However, median survival with aggressive systemic mastocytosis (ASM) is 41 months and that with systemic mastocytosis with associated hematological nonmast cell disorder (SM-AHNMD) is 24 months. Acute mast cell leukemia has the poorest prognosis, with a median survival of 2 months.

• #43 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Systemic mastocytosis is an extremely rare disorder in the United States; the specific incidence has not been reported. Likewise, epidemiologic data on the incidence of systemic mastocytosis are lacking. Some studies in Great Britain showed two cases per year from a study population of 300,000. […] Systemic mastocytosis is a progressive neoplastic disorder that has no known curative therapy. Survival in patients with indolent systemic mastocytosis, with a median survival of 198 months, is not significantly different from the general population. However, median survival with aggressive systemic mastocytosis (ASM) is 41 months and that with systemic mastocytosis with associated hematological nonmast cell disorder (SM-AHNMD) is 24 months. Acute mast cell leukemia has the poorest prognosis, with a median survival of 2 months.

• #44 Systemic mastocytosis with flushing and hypotension: A case report and literature review

  https://www.spandidos-publications.com/10.3892/etm.2021.9835

  The progression and prognosis of ISM are not associated with the ultrasonography findings. […] ASM and SM-AHN are associated with poor prognosis, with median survival rates of 41 and 24 months, respectively. […] The patient in the present study belonged to the ISM group, and hematology specialists in the Peking Union Medical College Hospital recommended two treatment options for the patient. […] Therefore, it was recommended that the patient begins treatment with interferon and/or glucocorticoid immediately. […] In conclusion, the diagnosis and treatment of the present case were in accordance with SM/MCAS.

• #45 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Systemic mastocytosis is an extremely rare disorder in the United States; the specific incidence has not been reported. Likewise, epidemiologic data on the incidence of systemic mastocytosis are lacking. Some studies in Great Britain showed two cases per year from a study population of 300,000. […] Systemic mastocytosis is a progressive neoplastic disorder that has no known curative therapy. Survival in patients with indolent systemic mastocytosis, with a median survival of 198 months, is not significantly different from the general population. However, median survival with aggressive systemic mastocytosis (ASM) is 41 months and that with systemic mastocytosis with associated hematological nonmast cell disorder (SM-AHNMD) is 24 months. Acute mast cell leukemia has the poorest prognosis, with a median survival of 2 months.

• #46 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adult patients fit into the indolent systemic mastocytosis category. While they may be symptomatic, indolent systemic mastocytosis patients generally have low morbidity and normal life expectancy not different from their peers. […] Smoldering systemic mastocytosis patients have an inferior survival compared to indolent systemic mastocytosis, but the advanced age of those patients account for most of the difference. […] Aggressive systemic mastocytosis patients have more significant symptoms, including enlarged liver and lymph nodes, as well as blood abnormalities such as anemia and low platelets. […] Patients with systemic mastocytosis with an associated hematologic neoplasm suffer from additional problems caused by the associated blood malignancy.

• #47 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Systemic-Mastocytosis.aspx

  Systemic mastocytosis has an estimated prevalence of 1 in 10,000 to 20,000 worldwide. […] Clinical and hybrid clinical-molecular risk models have recently been developed to better predict prognosis in SM patients.

• #48 Comprehensive mastocytosis data analysis from a single center | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-022-10498-3

  The prognosis, symptoms, and treatment vary among patients depending on the disease variant, the presence of an additional hematologic neoplasm as well as the presence of comorbidities. […] In the survival analyzes performed according to the IPSM scoring system, survival time was significantly longer in patients with low IPSM than in patients with AdvSM-3 and AdvSM-4. Survival time was significantly longer in the patients with AdvSM-2 than in the patients with advanced SM4. […] Survival was lower in advanced SM patients. This was consistent with the literature. According to the IPSM score, advanced SM group survivals were significantly less than other groups. In addition to the WHO classification, the IPSM scoring system is indicative of the prognosis in this rare disease.

• #49

  https://haematologica.org/article/view/7840

  Depending on the subtype, the survival of patients with AdvSM ranges from a few months to several years, therefore cytoreductive therapy is indicated in most of these patients. […] The presence of additional genetic defects in KIT D816V+ AdvSM patients may confer adverse prognosis as compared with patients without such abnormalities. […] It appears that, based on these findings, the inclusion of molecular markers should be considered in upcoming prognostic scoring systems for patients with SM. […] Advanced variants of SM share two major characteristics: i) the prognosis of the disease remains poor, and ii) other than allogeneic HCT no curative therapy is available. […] Only a few drugs have shown beneficial effects in AdvSM (2-CdA, interferon-alpha, and midostaurin).

• #50 Orphanet: Indolent systemic mastocytosis

  https://www.orpha.net/en/disease/detail/98848

  Indolent SM (ISM) represents 90% of all cases of SM for which the prevalence in Europe is estimated between 1/7,700 and 1/10,400. […] The evolution of ISM and of BMM is slow and benign. The prognosis is generally good and life expectancy is similar to that of the general population. However, some of these patients may finally progress to SSM, SM-AHN, ASM or even MCL; multilineage KIT D816V involvement is probably the most important prognostic criterion for progression of ISM to more advanced SM subtypes.

• #51 Epidemiology of mastocytosis: a population-based study (Sweden) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38380845/

  Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. […] We identified 2,040 adults with a mastocytosis diagnosis yielding an annual incidence of 1.56 per 100,000 (95% CI 1.29-1.87) and a prevalence of 23.9 per 100,000 (95% CI 22.8-25.0). The comorbidity burden was higher, and the OS lower, in patients with mastocytosis compared to comparators. […] We found a higher incidence and prevalence of mastocytosis compared to assessments in other settings and confirmed that the prognosis generally is favorable. Of special note was evidence of a higher comorbidity burden in mastocytosis patients compared to the background population.

• #52 Indolent Systemic Mastocytosis Poses a Significant Quality of Life Burden – Indolent Systemic Mastocytosis

  https://www.medpagetoday.com/resource-centers/indolent-systemic-mastocytosis/indolent-systemic-mastocytosis–poses-significant-quality-life-burden/5679

  The burden of indolent systemic mastocytosis (ISM) is comparable to such diseases as lymphoma, leukemia, and psoriasis, according to a study of the physical and emotional consequences measured with the disability-adjusted life year (DALY) tool. […] The DALY scores of disease burden were commensurate with many serious disorders, including lymphoma and leukemia, data that support referral of patients with mastocytosis to specialist centers. […] Patient data were drawn from a database at Toulouse University Hospital in France, where a reference center for rare mastocytosis diseases has been created to capture demographics and outcomes for all cases. […] The study population included 168 ISM patients with a mean age of 56.1 years. […] Ultimately, the DALY scores of disease burden were commensurate with many serious disorders, including lymphoma and leukemia, according to Dr. Mouni. While he and his coinvestigators plan further studies, he said these data support referral of patients with mastocytosis to specialist centers.

• #53 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  Survival in ISM is in most cases equal to that in the normal population. […] AdvSM leads to infiltration of mast cells in organs and causes organ impairment with symptoms such as, e.g., transaminitis, malabsorption and severe osteoporosis. […] The symptoms and signs can include, e.g., skin and gastrointestinal (GI) problems, cognitive disabilities, depression and life-threatening anaphylactic reactions. […] Since the disease can give rise to a variety of symptoms and signs and the time between symptom onset and diagnosis can be long, the persons wellbeing can be severely affected. […] Studies on the experiences of living with SM are still sparse and, to the best of our knowledge, no studies have focussed specifically on persons with ISM and AdvSM and their experiences before diagnosis.

• #54 How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis | Primary Health Care Research & Development | Cambridge Core

  https://www.cambridge.org/core/journals/primary-health-care-research-and-development/article/how-persons-with-systemic-mastocytosis-describe-the-time-between-symptom-onset-and-receiving-diagnosis/DEDD41F33697B668404799755237327F

  The time between symptom onset and getting a diagnosis has been reported as being easier to accept if healthcare professionals listen and are supportive, as well as being honest about lacking knowledge. […] The current study underlines the importance of listening carefully to the patients descriptions. When patients describe symptom clusters including some or all of the following; mild to severe gastrointestinal symptoms, pruritus, flushing and skin rashes, allergy with various triggers, recurrent syncope or anaphylaxis, declined cognitive ability or mood swings, general practitioners should consider referring these persons to specialist care for further investigation. […] The healthcare deficiency in diagnosing and supporting these persons highlights the importance of a person-centred approach and the need to increase knowledge of SM within healthcare, in order to shorten this stressful and vulnerable time.

• #55 Epidemiology of mastocytosis: a population-based study (Sweden) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38380845/

  Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. […] We identified 2,040 adults with a mastocytosis diagnosis yielding an annual incidence of 1.56 per 100,000 (95% CI 1.29-1.87) and a prevalence of 23.9 per 100,000 (95% CI 22.8-25.0). The comorbidity burden was higher, and the OS lower, in patients with mastocytosis compared to comparators. […] We found a higher incidence and prevalence of mastocytosis compared to assessments in other settings and confirmed that the prognosis generally is favorable. Of special note was evidence of a higher comorbidity burden in mastocytosis patients compared to the background population.

• #56

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  Mastocytosis is a group of rare heterogeneous diseases with a prevalence previously found to be 1023 per 100,000 persons. […] Here, we set out to present the prevalence and incidence rate of mastocytosis among the adult Danish population. […] The prevalence of mastocytosis was 27.43 per 100,000 persons (95% confidence interval [CI]: 25.95-28.96) as of January 1, 2022, and the 25-year average incidence rate between 1997 and 2021 was 1.21 per 100,000 persons (95%CI: 1.02-1.40) with an increasing incidence rate since 2002. […] We found a higher prevalence of mastocytosis among adults in the Danish population than previously reported, and an increasing incidence rate during the last 20 years. […] The prevalence of mastocytosis in Denmark as of January 1, 2022, was 27.43 per 100,000 (95% confidence interval (CI): 25.95-28.96). […] The average incidence rate of mastocytosis between 1997 and 2021 was 1.21 per 100,000 (95% CI: 1.02-1.40) with an increasing yearly incidence rate since 2002.

• #57

  https://haematologica.org/article/view/7840

  Depending on the subtype, the survival of patients with AdvSM ranges from a few months to several years, therefore cytoreductive therapy is indicated in most of these patients. […] The presence of additional genetic defects in KIT D816V+ AdvSM patients may confer adverse prognosis as compared with patients without such abnormalities. […] It appears that, based on these findings, the inclusion of molecular markers should be considered in upcoming prognostic scoring systems for patients with SM. […] Advanced variants of SM share two major characteristics: i) the prognosis of the disease remains poor, and ii) other than allogeneic HCT no curative therapy is available. […] Only a few drugs have shown beneficial effects in AdvSM (2-CdA, interferon-alpha, and midostaurin).

• #58 Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02661-1

  Systemic mastocytosis is a rare, clonal mast cell neoplasm driven by the KIT D816V mutation that is characterized by uncontrolled proliferation and activation of mast cells, which leads to severe and unpredictable symptoms for patients with systemic mastocytosis. As a rare disease, the incidence of all systemic mastocytosis subtypes is approximately 0.89 per 100,000 per year and the prevalence of indolent systemic mastocytosis (ISM) in the Groningen region of the Netherlands, a major referral area for systemic mastocytosis patients, is estimated at 13/100,000. […] A total of 103 patients (81.6% female; mean age=50.2 [12.6]) with a self-reported diagnosis of ISM or SSM (58 of whom also had a medically documented diagnosis) contributed to the analyses. […] A biweekly ISM-SAF TSS from 21 to 28 begins to distinguish the moderately to severely symptomatic ISM/SSM patients from mildly symptomatic patients. […] A cut-off value of 28 is a conservative threshold that can be used for screening purposes in future clinical studies to identify patients with at least a moderate severity of ISM symptoms.

• #59 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  The specialists noted that most of their patients with SM come by way of referral. […] Diagnosis is often made differentially, Lugar added, which itself is associated with several challenges. […] Given these challenges, the panelists underscored that the information from referring physicians is critical for an accurate diagnosis. […] Treatment options for advanced SM are limited, which likely reflects the diagnostic challenges and lack of clinical biomarkers. […] Historically, clinicians have relied on chemotherapy and stem cell transplants to treat aggressive SM, but targeted options are available, and others are in development. […] Avapritinib is a potent and selective KIT D816V inhibitor. […] As testing methods and treatment options expand, the rarity and complexity of SM will continue to present significant challenges regarding identification and management.

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