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Aggressive systemic mastocytosis

MedGen UID:
206813
•Concept ID:
C1112486
•
Neoplastic Process
Synonyms: Aggressive Systemic Mastocytoses; Aggressive Systemic Mastocytosis; Mastocytoses, Aggressive Systemic; Mastocytosis, Aggressive Systemic; Systemic Mastocytoses, Aggressive; Systemic Mastocytosis, Aggressive
SNOMED CT: Aggressive lymphadenopathic mastocytosis with eosinophilia (397008008); Aggressive systemic mastocytosis (397358005); Lymphadenopathic mastocytosis with eosinophilia (397008008); Aggressive systemic mastocytosis (716655008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0020333
Orphanet: ORPHA98850

Definition

A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn''t usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAggressive systemic mastocytosis
Follow this link to review classifications for Aggressive systemic mastocytosis in Orphanet.

Professional guidelines

PubMed

Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.
Polivka L, Rossignol J, Neuraz A, Condé D, Agopian J, Méni C, Garcelon N, Dubreuil P, Maouche-Chrétien L, Hadj-Rabia S, Hermine O, Bodemer C
J Allergy Clin Immunol Pract 2021 Apr;9(4):1695-1704.e5. Epub 2020 Dec 15 doi: 10.1016/j.jaip.2020.12.019. PMID: 33338682
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.
Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, Sotlar K, Sperr WR, Escribano L, George TI, Kluin-Nelemans HC, Ustun C, Triggiani M, Brockow K, Gotlib J, Orfao A, Schwartz LB, Broesby-Olsen S, Bindslev-Jensen C, Kovanen PT, Galli SJ, Austen KF, Arber DA, Horny HP, Arock M, Metcalfe DD
Cancer Res 2017 Mar 15;77(6):1261-1270. Epub 2017 Mar 2 doi: 10.1158/0008-5472.CAN-16-2234. PMID: 28254862Free PMC Article
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis.
Horny HP, Sotlar K, Reiter A, Valent P
Expert Rev Hematol 2014 Aug;7(4):431-7. doi: 10.1586/17474086.2014.942280. PMID: 25025369

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Systemic Mastocytosis, 2024

Recent clinical studies

Etiology

Aggressive systemic mastocytosis of colon and lymph node: A case report.
Xun-Ze S, Liu F, Lin C, Sun YF
Medicine (Baltimore) 2023 May 26;102(21):e33813. doi: 10.1097/MD.0000000000033813. PMID: 37233424Free PMC Article
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.
Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, Sotlar K, Sperr WR, Escribano L, George TI, Kluin-Nelemans HC, Ustun C, Triggiani M, Brockow K, Gotlib J, Orfao A, Schwartz LB, Broesby-Olsen S, Bindslev-Jensen C, Kovanen PT, Galli SJ, Austen KF, Arber DA, Horny HP, Arock M, Metcalfe DD
Cancer Res 2017 Mar 15;77(6):1261-1270. Epub 2017 Mar 2 doi: 10.1158/0008-5472.CAN-16-2234. PMID: 28254862Free PMC Article
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice.
Ustun C, Arock M, Kluin-Nelemans HC, Reiter A, Sperr WR, George T, Horny HP, Hartmann K, Sotlar K, Damaj G, Hermine O, Verstovsek S, Metcalfe DD, Gotlib J, Akin C, Valent P
Haematologica 2016 Oct;101(10):1133-1143. doi: 10.3324/haematol.2016.146563. PMID: 27694501
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis.
Horny HP, Sotlar K, Reiter A, Valent P
Expert Rev Hematol 2014 Aug;7(4):431-7. doi: 10.1586/17474086.2014.942280. PMID: 25025369
Mastocytosis and related disorders.
Chiu A, Orazi A
Semin Diagn Pathol 2012 Feb;29(1):19-30. doi: 10.1053/j.semdp.2011.06.002. PMID: 22372203

Diagnosis

The international consensus classification of mastocytosis and related entities.
Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A
Virchows Arch 2023 Jan;482(1):99-112. Epub 2022 Oct 10 doi: 10.1007/s00428-022-03423-3. PMID: 36214901
Midostaurin: First Global Approval.
Kim ES
Drugs 2017 Jul;77(11):1251-1259. doi: 10.1007/s40265-017-0779-0. PMID: 28612232
Pharmacotherapy of mast cell disorders.
Gülen T, Akin C
Curr Opin Allergy Clin Immunol 2017 Aug;17(4):295-303. doi: 10.1097/ACI.0000000000000377. PMID: 28570344
Mast cell leukemia.
Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
Blood 2013 Feb 21;121(8):1285-95. Epub 2012 Dec 14 doi: 10.1182/blood-2012-07-442400. PMID: 23243287
Mastocytosis and related disorders.
Chiu A, Orazi A
Semin Diagn Pathol 2012 Feb;29(1):19-30. doi: 10.1053/j.semdp.2011.06.002. PMID: 22372203

Therapy

Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis.
Kayser S, Levis MJ, Schlenk RF
Expert Rev Clin Pharmacol 2017 Nov;10(11):1177-1189. Epub 2017 Oct 10 doi: 10.1080/17512433.2017.1387051. PMID: 28960095
Midostaurin: First Global Approval.
Kim ES
Drugs 2017 Jul;77(11):1251-1259. doi: 10.1007/s40265-017-0779-0. PMID: 28612232
Current approaches to the diagnosis and treatment of systemic mastocytosis.
Bains SN, Hsieh FH
Ann Allergy Asthma Immunol 2010 Jan;104(1):1-10; quiz 10-2, 41. doi: 10.1016/j.anai.2009.11.006. PMID: 20143640
Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria.
Valent P, Akin C, Sperr WR, Escribano L, Arock M, Horny HP, Bennett JM, Metcalfe DD
Leuk Res 2003 Jul;27(7):635-41. doi: 10.1016/s0145-2126(02)00168-6. PMID: 12681363
Aggressive systemic mastocytosis.
Inaoui R, Petit B, Jaccard A, Bertin P, Trèves R
Joint Bone Spine 2003 Feb;70(1):64-6. doi: 10.1016/s1297-319x(02)00015-5. PMID: 12639621

Prognosis

Pharmacotherapy of mast cell disorders.
Gülen T, Akin C
Curr Opin Allergy Clin Immunol 2017 Aug;17(4):295-303. doi: 10.1097/ACI.0000000000000377. PMID: 28570344
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future.
Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, Sotlar K, Sperr WR, Escribano L, George TI, Kluin-Nelemans HC, Ustun C, Triggiani M, Brockow K, Gotlib J, Orfao A, Schwartz LB, Broesby-Olsen S, Bindslev-Jensen C, Kovanen PT, Galli SJ, Austen KF, Arber DA, Horny HP, Arock M, Metcalfe DD
Cancer Res 2017 Mar 15;77(6):1261-1270. Epub 2017 Mar 2 doi: 10.1158/0008-5472.CAN-16-2234. PMID: 28254862Free PMC Article
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice.
Ustun C, Arock M, Kluin-Nelemans HC, Reiter A, Sperr WR, George T, Horny HP, Hartmann K, Sotlar K, Damaj G, Hermine O, Verstovsek S, Metcalfe DD, Gotlib J, Akin C, Valent P
Haematologica 2016 Oct;101(10):1133-1143. doi: 10.3324/haematol.2016.146563. PMID: 27694501
Current approaches to the diagnosis and treatment of systemic mastocytosis.
Bains SN, Hsieh FH
Ann Allergy Asthma Immunol 2010 Jan;104(1):1-10; quiz 10-2, 41. doi: 10.1016/j.anai.2009.11.006. PMID: 20143640
Aggressive systemic mastocytosis.
Inaoui R, Petit B, Jaccard A, Bertin P, Trèves R
Joint Bone Spine 2003 Feb;70(1):64-6. doi: 10.1016/s1297-319x(02)00015-5. PMID: 12639621

Clinical prediction guides

Aggressive systemic mastocytosis of colon and lymph node: A case report.
Xun-Ze S, Liu F, Lin C, Sun YF
Medicine (Baltimore) 2023 May 26;102(21):e33813. doi: 10.1097/MD.0000000000033813. PMID: 37233424Free PMC Article
Therapeutic management and outcome of patients with advanced systemic mastocytosis treated with midostaurin: A comprehensive real-life study in the French national healthcare database.
Rossignol J, Nizard S, Blanc AS, Filipovics A, Lortet-Tieulent J, Bouktit H, Poinsot G, Schmidt A, Raguideau F, Hermine O
Hematol Oncol 2022 Dec;40(5):1030-1040. Epub 2022 Aug 29 doi: 10.1002/hon.3062. PMID: 35949110
European Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis.
Tzogani K, Yu Y, Meulendijks D, Herberts C, Hennik P, Verheijen R, Wangen T, Dahlseng Håkonsen G, Kaasboll T, Dalhus M, Bolstad B, Salmonson T, Gisselbrecht C, Pignatti F
ESMO Open 2019 Nov;4(6) doi: 10.1136/esmoopen-2019-000606. PMID: 32392175Free PMC Article
Pharmacotherapy of mast cell disorders.
Gülen T, Akin C
Curr Opin Allergy Clin Immunol 2017 Aug;17(4):295-303. doi: 10.1097/ACI.0000000000000377. PMID: 28570344
In utero presentation of aggressive systemic mastocytosis in a neonate.
Huang A, Fiadorchanka N, Brar K, Balderacchi JL, Glick SA
Br J Dermatol 2017 Nov;177(5):1439-1441. Epub 2017 Sep 22 doi: 10.1111/bjd.15506. PMID: 28369700

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    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Systemic Mastocytosis, 2024

    Reviews

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