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Article

Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis.

Genes, chromosomes & cancer - 1 May 2018

Naumann Nicole, Jawhar Mohamad, Schwaab Juliana, Kluger Sebastian, Lübke Johannes, Metzgeroth Georgia, Popp Henning D, Khaled Nada, Horny Hans-Peter, Sotlar Karl, Valent Peter, Haferlach Claudia, Göhring Gudrun, Schlegelberger Brigitte, Meggendorfer Manja, Hofmann Wolf-Karsten, Cross Nicholas C P, Reiter Andreas, Fabarius Alice

Abstract excerpt

The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in SRSF2, ASXL1, or RUNX1. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29341334
DOI: 10.1002/gcc.22526

Genes

KIT
ASXL1
RUNX1
SRSF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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