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Article

Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.

Annals of the New York Academy of Sciences - 1 Apr 2016

Klimiankou Maksim, Mellor-Heineke Sabine, Zeidler Cornelia, Welte Karl, Skokowa Julia

Abstract excerpt

Acquired mutations in the intracellular part of CSF3R (colony stimulating factor 3 receptor, granulocyte) have been detected with a frequency of more than 30% in severe congenital neutropenia (CN) patients. CN is a preleukemic syndrome with a risk of approximately 20% to develop leukemia. More than 80% of CN patients who develop acute myeloid leukemia or myelodysplastic syndrome reveal CSF3R mutations, suggesting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27270496
DOI: 10.1111/nyas.13097

Genes

ELANE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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