Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management

Pardanani, Animesh

doi:10.1002/ajh.26962

Cited by 132Mast cells and histamineGastrointestinal Tumor Research and TreatmentAcute Myeloid Leukemia Research

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management

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Pardanani, Animesh·2023·American Journal of Hematology

DOI 10.1002/ajh.26962

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Abstract

OVERVIEW: Systemic mastocytosis (SM) results from clonal proliferation of mast cells (MC) in extracutaneous organs. DIAGNOSIS: The major criterion is presence of multifocal MC clusters in the bone marrow and/or extracutaneous organs. Minor diagnostic criteria include elevated serum tryptase level, MC CD25/CD2/CD30 expression, and presence of activating KIT mutations. RISK STRATIFICATION: Establishing SM subtype as per the International Consensus Classification/World Health Organization classification systems is an important first step. Patients either have indolent/smoldering SM (ISM/SSM) or advanced SM, including aggressive SM (ASM), SM with associated myeloid neoplasm (SM-AMN), and mast cell leukemia. Identification of poor-risk mutations (i.e., ASXL1, RUNX1, SRSF2, NRAS) further refines the risk stratification. Several risk models are available to help assign prognosis in SM patients. MANAGEMENT: Treatment goals for ISM patients are primarily directed toward anaphylaxis prevention/symptom control/osteoporosis treatment. Patients with advanced SM frequently need MC cytoreductive therapy to reverse disease-related organ dysfunction. Tyrosine kinase inhibitors (TKI) (midostaurin, avapritinib) have changed the treatment landscape in SM. While deep biochemical, histological and molecular responses have been documented with avapritinib treatment, its efficacy as monotherapy against a multimutated AMN disease component in SM-AMN patients remains unclear. Cladribine continues to have a role for MC debulking, whereas interferon-α has a diminishing role in the TKI era. Treatment of SM-AMN primarily targets the AMN component, particularly if an aggressive disease such as acute leukemia is present. Allogeneic stem cell transplant has a role in such patients. Imatinib has a therapeutic role only in the rare patient with an imatinib-sensitive KIT mutation.

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A tryptase > 20 ng/mL serves as a minor criterion to diagnose systemic mastocytosis.
“A tryptase > 20 ng/mL serves as a minor criterion to diagnose systemic mastocytosis and an increase in tryptase > 20% + 2 during an acute event is a required criterion in the diagnosis of mast cell activation syndrome.”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [14]
Only a small subset of SM patients (approximately 10%) present with an aggressive variant, with clinical manifestations primarily dictated by C-findings.
“Only a small subset of SM patients (approximately 10%) present with an aggressive variant, with clinical manifestations primarily dictated by the presence of C-findings (53).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [53]
In cases with less specific manifestations (gastrointestinal symptoms, fatigue, neurologic/neuropsychiatric manifestations), recommendations for testing BST are not standardized.
“In all these cases, the recommendations for testing BST are not standardized (53–55, 65).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [53]
The Diagnosis and Serum tryptase level sections (sections 2 and 2.3; page not provided) discuss symptoms that can raise suspicion of systemic mastocytosis and how basal serum tryptase is used diagnostically. Neither states whether recommendations for testing basal serum tryptase in people with gastrointestinal, fatigue, or neurologic/neuropsychiatric symptoms are standardized; searches for testing indications and those symptoms found no such passage. (LLM, conf=0.72)
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“SM is distinct from nonclonal mast cell activation syndrome (MCAS), in which patients display recurrent symptoms of systemic MC activation of varying severity, with concurrent increase in MC mediator release.(11) Further, there is increased frequency (2–3 ) of hereditary α-tryptasemia, a condition associated with incr…”
Background
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Successful treatment of systemic mastocytosis with high dose interferon alfa*1Long-term follow-up of a case
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Travis WD, Li CY, Yam LT, Bergstralh EJ, Swee RG. Significance of systemic mast cell disease with associated hematologic disorders. Cancer. 1988;62(5):965-972.

Sorted by citations

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Too many dangerous allergies
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Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management
Pardanani, A. D. (2026) · American Journal of Hematology · doi:10.1002/ajh.70395
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management
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Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management
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Systemic mastocytosis in adults: 2015 update on diagnosis, risk stratification, and management
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Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management
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Authors: Pardanani, A.
Affiliations: Mayo Clinic (US)
Corresponding author: Pardanani, Animesh
ORCID: Pardanani, Animesh
Venue: American Journal of Hematology
Publisher: Wiley
Published: 2023-05-22
Volume: 98
Issue: 7
Pages: 1097-1116
ISSN: 0361-8609 (ISSN-L)
1096-8652
DOI: 10.1002/ajh.26962
OpenAlex: W4377226862
Cited by: 132
References: 155
Citations by year: 2026: 27 · 2025: 54 · 2024: 22 · 2023: 12 · 2021: 4 · 2020: 3 · 2018: 3 · 2017: 2 · 2016: 2 · 2014: 2 · 2013: 1
FWCI: 12.60
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Hematology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords: systemic mastocytosis, KIT mutations, risk stratification, mast cell leukemia, indolent systemic mastocytosis, tyrosine kinase inhibitors, avapritinib, midostaurin, cladribine, interferon-alpha, imatinib, allogeneic stem cell transplantation, anaphylaxis, osteoporosis, ASXL1, RUNX1, SRSF2, NRAS
MeSH terms: Imatinib Mesylate, Adult, Humans, Leukemia, Mast-Cell, Mast Cells, Risk Assessment, Mastocytosis, Systemic

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