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[Familial leukemia due to germline RUNX1 mutations: lessons learned from two decades of research and unsolved problems].

[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jan 2020

Osato Motomi, Nambu Akiko

Abstract excerpt

The RUNX1 gene is a critical transcription factor for the generation and maintenance of hematopoietic stem cells. RUNX1 is also one of the most frequently mutated gene in sporadic leukemias. Heterozygous loss-of-function mutations of the RUNX1 gene in the germline cause a rare autosomal dominant disorder called familial platelet disorder with propensity to acute myelogenous leukemia (FPD/AML). Besides the...

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PMID: 32624544
DOI: 10.11406/rinketsu.61.687

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