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Indolent systemic mastocytosis

MedGen UID:
82897
•Concept ID:
C0272203
•
Neoplastic Process
Synonyms: Indolent Systemic Mastocytoses; Indolent Systemic Mastocytosis; Mastocytoses, Indolent Systemic; Mastocytosis, Indolent Systemic; Systemic Mastocytoses, Indolent; Systemic Mastocytosis, Indolent
SNOMED CT: Indolent systemic mastocytosis (70910003); Indolent systemic mastocytosis (397356009)
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:0020331
Orphanet: ORPHA98848

Definition

A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Tyrosine kinase inhibitors for the treatment of indolent systemic mastocytosis: Are we there yet?
Akin C, Arock M, Valent P
J Allergy Clin Immunol 2022 Jun;149(6):1912-1918. Epub 2022 Apr 26 doi: 10.1016/j.jaci.2022.04.020. PMID: 35487307
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
Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment.
Azaña JM, Torrelo A, Matito A
Actas Dermosifiliogr 2016 Jan-Feb;107(1):15-22. Epub 2015 Oct 30 doi: 10.1016/j.ad.2015.09.009. PMID: 26525106

Curated

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

Recent clinical studies

Etiology

Mast Cell-Targeting Therapies in Mast Cell Activation Syndromes.
Sabato V, Beyens M, Toscano A, Van Gasse A, Ebo DG
Curr Allergy Asthma Rep 2024 Feb;24(2):63-71. Epub 2024 Jan 13 doi: 10.1007/s11882-023-01123-9. PMID: 38217824
Avapritinib versus Placebo in Indolent Systemic Mastocytosis.
Gotlib J, Castells M, Elberink HO, Siebenhaar F, Hartmann K, Broesby-Olsen S, George TI, Panse J, Alvarez-Twose I, Radia DH, Tashi T, Bulai Livideanu C, Sabato V, Heaney M, Van Daele P, Cerquozzi S, Dybedal I, Reiter A, Pongdee T, Barete S, Ustun C, Schwartz L, Ward BR, Schafhausen P, Vadas P, Bose P, DeAngelo DJ, Rein L, Vachhani P, Triggiani M, Bonadonna P, Rafferty M, Butt NM, Oh ST, Wortmann F, Ungerstedt J, Guilarte M, Taparia M, Kuykendall AT, Arana Yi C, Ogbogu P, Gaudy-Marqueste C, Mattsson M, Shomali W, Giannetti MP, Bidollari I, Lin HM, Sulllivan E, Mar B, Scherber R, Roche M, Akin C, Maurer M
NEJM Evid 2023 Jun;2(6):EVIDoa2200339. Epub 2023 May 23 doi: 10.1056/EVIDoa2200339. PMID: 38320129
Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis.
Górska A, Urbanowicz M, Grochowalski Ł, Seweryn M, Sobalska-Kwapis M, Wojdacz T, Lange M, Gruchała-Niedoszytko M, Jarczak J, Strapagiel D, Górska-Ponikowska M, Pelikant-Małecka I, Kalinowski L, Nedoszytko B, Gutowska-Owsiak D, Niedoszytko M
Int J Mol Sci 2023 Sep 10;24(18) doi: 10.3390/ijms241813910. PMID: 37762215Free PMC Article
Anaphylaxis: Data Gaps and Research Needs.
Dribin TE, Castells M
Immunol Allergy Clin North Am 2022 Feb;42(1):187-200. doi: 10.1016/j.iac.2021.10.002. PMID: 34823747Free PMC Article
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

Avapritinib versus Placebo in Indolent Systemic Mastocytosis.
Gotlib J, Castells M, Elberink HO, Siebenhaar F, Hartmann K, Broesby-Olsen S, George TI, Panse J, Alvarez-Twose I, Radia DH, Tashi T, Bulai Livideanu C, Sabato V, Heaney M, Van Daele P, Cerquozzi S, Dybedal I, Reiter A, Pongdee T, Barete S, Ustun C, Schwartz L, Ward BR, Schafhausen P, Vadas P, Bose P, DeAngelo DJ, Rein L, Vachhani P, Triggiani M, Bonadonna P, Rafferty M, Butt NM, Oh ST, Wortmann F, Ungerstedt J, Guilarte M, Taparia M, Kuykendall AT, Arana Yi C, Ogbogu P, Gaudy-Marqueste C, Mattsson M, Shomali W, Giannetti MP, Bidollari I, Lin HM, Sulllivan E, Mar B, Scherber R, Roche M, Akin C, Maurer M
NEJM Evid 2023 Jun;2(6):EVIDoa2200339. Epub 2023 May 23 doi: 10.1056/EVIDoa2200339. PMID: 38320129
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
Anaphylaxis: Data Gaps and Research Needs.
Dribin TE, Castells M
Immunol Allergy Clin North Am 2022 Feb;42(1):187-200. doi: 10.1016/j.iac.2021.10.002. PMID: 34823747Free PMC Article
Cutaneous mastocytosis: A dermatological perspective.
Di Raimondo C, Del Duca E, Silvaggio D, Di Prete M, Lombardo P, Mazzeo M, Spallone G, Campione E, Botti E, Bianchi L
Australas J Dermatol 2021 Feb;62(1):e1-e7. Epub 2020 Oct 11 doi: 10.1111/ajd.13443. PMID: 33040350
Idiopathic anaphylaxis.
Guo C, Greenberger PA
Allergy Asthma Proc 2019 Nov 1;40(6):457-461. doi: 10.2500/aap.2019.40.4271. PMID: 31690394

Therapy

Avapritinib versus Placebo in Indolent Systemic Mastocytosis.
Gotlib J, Castells M, Elberink HO, Siebenhaar F, Hartmann K, Broesby-Olsen S, George TI, Panse J, Alvarez-Twose I, Radia DH, Tashi T, Bulai Livideanu C, Sabato V, Heaney M, Van Daele P, Cerquozzi S, Dybedal I, Reiter A, Pongdee T, Barete S, Ustun C, Schwartz L, Ward BR, Schafhausen P, Vadas P, Bose P, DeAngelo DJ, Rein L, Vachhani P, Triggiani M, Bonadonna P, Rafferty M, Butt NM, Oh ST, Wortmann F, Ungerstedt J, Guilarte M, Taparia M, Kuykendall AT, Arana Yi C, Ogbogu P, Gaudy-Marqueste C, Mattsson M, Shomali W, Giannetti MP, Bidollari I, Lin HM, Sulllivan E, Mar B, Scherber R, Roche M, Akin C, Maurer M
NEJM Evid 2023 Jun;2(6):EVIDoa2200339. Epub 2023 May 23 doi: 10.1056/EVIDoa2200339. PMID: 38320129
Tyrosine kinase inhibitors for the treatment of indolent systemic mastocytosis: Are we there yet?
Akin C, Arock M, Valent P
J Allergy Clin Immunol 2022 Jun;149(6):1912-1918. Epub 2022 Apr 26 doi: 10.1016/j.jaci.2022.04.020. PMID: 35487307
Cladribine therapy for advanced and indolent systemic mastocytosis: Mayo Clinic experience in 42 consecutive cases.
Tefferi A, Kittur J, Farrukh F, Begna KH, Patnaik MM, Al-Kali A, Elliott MA, Reichard KK, Gangat N, Pardanani A
Br J Haematol 2022 Feb;196(4):975-983. Epub 2021 Nov 3 doi: 10.1111/bjh.17932. PMID: 34729775
Idiopathic anaphylaxis.
Guo C, Greenberger PA
Allergy Asthma Proc 2019 Nov 1;40(6):457-461. doi: 10.2500/aap.2019.40.4271. PMID: 31690394
Chapter 25: Idiopathic anaphylaxis.
Blatman KH, Ditto AM
Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:84-87. doi: 10.2500/aap.2012.33.3558. PMID: 22794698

Prognosis

Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis.
Górska A, Urbanowicz M, Grochowalski Ł, Seweryn M, Sobalska-Kwapis M, Wojdacz T, Lange M, Gruchała-Niedoszytko M, Jarczak J, Strapagiel D, Górska-Ponikowska M, Pelikant-Małecka I, Kalinowski L, Nedoszytko B, Gutowska-Owsiak D, Niedoszytko M
Int J Mol Sci 2023 Sep 10;24(18) doi: 10.3390/ijms241813910. PMID: 37762215Free PMC Article
Anaphylaxis: Data Gaps and Research Needs.
Dribin TE, Castells M
Immunol Allergy Clin North Am 2022 Feb;42(1):187-200. doi: 10.1016/j.iac.2021.10.002. PMID: 34823747Free PMC Article
Cutaneous mastocytosis: A dermatological perspective.
Di Raimondo C, Del Duca E, Silvaggio D, Di Prete M, Lombardo P, Mazzeo M, Spallone G, Campione E, Botti E, Bianchi L
Australas J Dermatol 2021 Feb;62(1):e1-e7. Epub 2020 Oct 11 doi: 10.1111/ajd.13443. PMID: 33040350
Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment.
Azaña JM, Torrelo A, Matito A
Actas Dermosifiliogr 2016 Jan-Feb;107(1):15-22. Epub 2015 Oct 30 doi: 10.1016/j.ad.2015.09.009. PMID: 26525106
Epidemiology, prognosis, and risk factors in mastocytosis.
Brockow K
Immunol Allergy Clin North Am 2014 May;34(2):283-95. doi: 10.1016/j.iac.2014.01.003. PMID: 24745674

Clinical prediction guides

Standardized indolent systemic mastocytosis evaluations across a health care system: implications for screening accuracy.
McMurray JC, Pacheco CS, Schornack BJ, Sun X, Brunader JA, Scott AE, Ariza JS, Kou CJ, Costantino RC, Pittman LM, Adams KE, Waters AM, Pryor EM, Lyons JJ, Metcalfe DD, Maric I, Boggs NA
Blood 2024 Jul 25;144(4):408-419. doi: 10.1182/blood.2023023347. PMID: 38635793Free PMC Article
Serum chemistry profiling and prognostication in systemic mastocytosis: a registry-based study of the ECNM and GREM.
Lübke J, Schmid A, Christen D, Oude Elberink HNG, Span LFR, Niedoszytko M, Gorska A, Lange M, Gleixner KV, Hadzijusufovic E, Stefan A, Angelova-Fischer I, Zanotti R, Bonifacio M, Bonadonna P, Shoumariyeh K, von Bubnoff N, Müller S, Perkins C, Elena C, Malcovati L, Hagglund H, Mattsson M, Parente R, Varkonyi J, Fortina AB, Caroppo F, Brockow K, Zink A, Breynaert C, Leven T, Yavuz AS, Doubek M, Sabato V, Schug T, Hartmann K, Triggiani M, Gotlib J, Hermine O, Arock M, Kluin-Nelemans HC, Panse J, Sperr WR, Valent P, Reiter A, Schwaab J
Blood Adv 2024 Jun 11;8(11):2890-2900. doi: 10.1182/bloodadvances.2024012756. PMID: 38593217Free PMC Article
Avapritinib versus Placebo in Indolent Systemic Mastocytosis.
Gotlib J, Castells M, Elberink HO, Siebenhaar F, Hartmann K, Broesby-Olsen S, George TI, Panse J, Alvarez-Twose I, Radia DH, Tashi T, Bulai Livideanu C, Sabato V, Heaney M, Van Daele P, Cerquozzi S, Dybedal I, Reiter A, Pongdee T, Barete S, Ustun C, Schwartz L, Ward BR, Schafhausen P, Vadas P, Bose P, DeAngelo DJ, Rein L, Vachhani P, Triggiani M, Bonadonna P, Rafferty M, Butt NM, Oh ST, Wortmann F, Ungerstedt J, Guilarte M, Taparia M, Kuykendall AT, Arana Yi C, Ogbogu P, Gaudy-Marqueste C, Mattsson M, Shomali W, Giannetti MP, Bidollari I, Lin HM, Sulllivan E, Mar B, Scherber R, Roche M, Akin C, Maurer M
NEJM Evid 2023 Jun;2(6):EVIDoa2200339. Epub 2023 May 23 doi: 10.1056/EVIDoa2200339. PMID: 38320129
Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis.
Górska A, Urbanowicz M, Grochowalski Ł, Seweryn M, Sobalska-Kwapis M, Wojdacz T, Lange M, Gruchała-Niedoszytko M, Jarczak J, Strapagiel D, Górska-Ponikowska M, Pelikant-Małecka I, Kalinowski L, Nedoszytko B, Gutowska-Owsiak D, Niedoszytko M
Int J Mol Sci 2023 Sep 10;24(18) doi: 10.3390/ijms241813910. PMID: 37762215Free PMC Article
Anaphylaxis: Data Gaps and Research Needs.
Dribin TE, Castells M
Immunol Allergy Clin North Am 2022 Feb;42(1):187-200. doi: 10.1016/j.iac.2021.10.002. PMID: 34823747Free PMC Article

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    Curated

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

    Reviews

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