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Article

Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event.

Leukemia - 1 May 2015

Jawhar M, Schwaab J, Schnittger S, Sotlar K, Horny H-P, Metzgeroth G, Müller N, Schneider S, Naumann N, Walz C, Haferlach T, Valent P, Hofmann W-K, Cross N C P, Fabarius A, Reiter A

Abstract excerpt

To explore the molecular profile and its prognostic implication in systemic mastocytosis (SM), we analyzed the mutation status of granulocyte-macrophage colony-forming progenitor cells (CFU-GM) in patients with KIT D816V(+) indolent SM (ISM, n=4), smoldering SM (SSM, n=2), aggressive SM (ASM, n=1...

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Source

Identifiers

PMID: 25567135
DOI: 10.1038/leu.2015.4

Genes

KIT
ASXL1
SRSF2
TET2
CBL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25567135-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event.PMID 25567135Read ↗

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic MastocytosisSemantic proximity Read ↗

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Detection of the KITD816V mutation in myelodysplastic and/or myeloproliferative neoplasms and acute myeloid leukemia with myelodysplasia-related changes predicts concurrent systemic mastocytosis.Semantic proximity Read ↗

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