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Article

Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.

The journal of allergy and clinical immunology. In practice - 1 Jan 2026

Hoermann Gregor, Orfao Alberto, Lyons Jonathan J, Chantran Yannick, Broesby-Olsen Sigurd, Sabato Vito, Arock Michel

Abstract excerpt

Mastocytosis represents a group of rare clonal disorders characterized by accumulation of neoplastic mast cells. Disease presentations range from indolent to highly aggressive forms. The discovery of somatic mutations in KIT, particularly KIT p.D816V, has revolutionized diagnosis, classification, and management of mastocytosis. KIT p.D816V, found in >85% of systemic mastocytosis (SM) cases, drives disease...

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Topics

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Share to DNA Methyltransferase 3A
Share to DNMT3A gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mastocytosis, Systemic

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Share to Proto-Oncogene Proteins c-kit

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Source

Open in PubMed Open full text

Identifiers

PMID: 40846032
DOI: 10.1016/j.jaip.2025.07.055
PMCID: PMC12799222

Genes

KIT
ASXL1
DNMT3A
RUNX1
SRSF2
TPSAB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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