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
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: P95 hotspots clustering in SM. IA rarely harbored driver mutations. Conclusion: -targeted therapies are biologically applicable in Thai patients.
Authors
- Torpong Thongngarm (ORCID: https://orcid.org/0000-0002-3182-4614)
- Chamard Wongsa
- Weerapat Owattanapanich (ORCID: https://orcid.org/0000-0002-1262-2005)
- Mongkhon Sompornrattanaphan (ORCID: https://orcid.org/0000-0001-8419-0873)
- Patchara Pornsuthirat
Institutions
- Siriraj Hospital (TH)
- Mahidol University (TH)
Publication Details
- Journal
- Journal of Asthma and Allergy
- Published
- 2026-04-01
- DOI
- https://doi.org/10.2147/jaa.s594281
- Primary Topic
- Mast cells and histamine
- Type
- article
- Field-Weighted Citation Impact
- 0.00