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Article

Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.

British journal of haematology - 1 Aug 2025

Sun Xiaoping, Wang Chen, Metcalfe Dean D, Carter Melody C, Maric Irina

Abstract excerpt

Paediatric mastocytosis is a heterogeneous disorder with different clinical subtypes and an often indolent disease course. The molecular landscape of genetic mutations, beyond KIT D816V, remains under exploration. We thus investigated the prevalence of myeloid genetic mutations in peripheral blood samples of 69 paediatric patients with cutaneous mastocytosis and systemic mastocytosis (SM) using next-generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40534376
DOI: 10.1111/bjh.20214
PMCID: PMC12308540

Genes

KIT
ASXL1
SRSF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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