The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies

Asumi Yokota, Li Huo, Fengli Lan, Jianqiang Wu, Gang Huang

Research output: Contribution to journalReview articlepeer-review

30 Scopus citations

Abstract

RUNX1 plays an important role in the regulation of normal hematopoiesis. RUNX1 mutations are frequently found and have been intensively studied in hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Somatic mutations of RUNX1 are observed in various types of hematological malignancies, such as AML, acute lymphoblastic leukemia (ALL), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), and congenital bone marrow failure (CBMF). Here, we systematically review the clinical and molecular characteristics of RUNX1 mutations, the mechanisms of pathogenesis caused by RUNX1 mutations, and potential therapeutic strategies to target RUNX1-mutated cases of hematological malignancies.

Original languageEnglish (US)
Pages (from-to)145-152
Number of pages8
JournalMolecules and Cells
Volume43
Issue number2
DOIs
StatePublished - Feb 29 2020
Externally publishedYes

Keywords

  • RUNX1 mutations
  • clinical incidence and prognosis
  • pathogenesis
  • targeted therapy

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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