Evidence map›Paper›PMID 42004892›Full record

ArticleJournal of asthma and allergy2026

Clonal Mast Cell Disorders and Mutation Profile in Adults Initially Presenting with Mast Cell Activation (Anaphylaxis) versus Non-Anaphylactic Presentations: A Joint Allergy-Hematology Cohort.

Patchara Pornsuthirat, Weerapat Owattanapanich, Chamard Wongsa, Torpong Thongngarm, Mongkhon Sompornrattanaphan

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Article in Journal of asthma and allergy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Patchara PornsuthiratDivision of Allergy and Clinical Immunology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Weerapat OwattanapanichDivision of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.ORCID 0000-0002-1262-2005
Chamard WongsaDivision of Allergy and Clinical Immunology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Torpong ThongngarmDivision of Allergy and Clinical Immunology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.ORCID 0000-0002-3182-4614
Mongkhon SompornrattanaphanDivision of Allergy and Clinical Immunology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.ORCID 0000-0001-8419-0873

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To compare the diagnostic yield, clinical, and molecular features of clonal mast cell disorders (CMCDs) in adults presenting with mast cell activation (MCA)/anaphylaxis versus non-anaphylactic phenotypes in a joint Allergy-Hematology cohort. Patients and Methods: In this single-center retrospective study, we reviewed clinician-selected adults (≥18 years) evaluated at a Thai tertiary center (2019-2024) who completed joint Allergy-Hematology evaluation and targeted 66-gene myeloid next-generation sequencing (NGS). Index presentations were classified as MCA/anaphylaxis versus non-MCA. Final diagnoses followed WHO 5th/International Consensus Classification criteria. Results: Of 24 sequenced adults, 14 (58.3%) had MCA/anaphylaxis and 10 (41.7%) had non-MCA presentations. Among sequenced MCA/anaphylaxis presentations, final diagnoses included idiopathic anaphylaxis (IA, n=11), secondary anaphylaxis (n=2), and systemic mastocytosis (SM, n=1). Conversely, all 10 non-MCA cases had CMCD (SM 6, cutaneous mastocytosis 4). Compared to non-mastocytosis cases, mastocytosis patients were older, predominantly male, with higher basal tryptase (median 22.4 vs 3.2 ng/mL). Pathogenic variants occurred in 12/24 (50%) patients: Conclusion: CMCD showed a low diagnostic yield (1/14, 7.1%) in the clinician-selected MCA/anaphylaxis subgroup escalated to marrow/NGS, but was universal in the hematologic non-MCA subset (10/10, 100%). These findings suggest that REMA-based, risk-stratified selection may be useful in this setting, but larger prospective studies are needed. While

Indexed as

anaphylaxisKIT D816Vmast cell activation syndromenext-generation sequencingREMA scoresystemic mastocytosis

Identifiers

PMID42004892
PMCPMC13091627

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.