Role of ASXL1 in hematopoiesis and myeloid diseases

Xin Gao, Xiaona You, Nathalie Droin, Lauren G. Banaszak, Jane Churpek, Eric Padron, Klaus Geissler, Eric Solary, Mrinal M. Patnaik, Jing Zhang

Research output: Contribution to journalReview articlepeer-review


Next-generation sequencing technology, including whole-exome or whole-genome sequencing and target gene sequencing, has allowed the molecular characterization of somatic mutation spectrums in hematologic diseases. Mutations in Additional sex combs-like 1 (ASXL1), a chromatin regulator, are identified in clonal hematopoiesis of indeterminate potential (CHIP), indicating ASXL1 mutations as early events in leukemogenesis. Not surprisingly, they occur at high frequency in myeloid malignancies and are associated with poor prognosis. Therefore, understanding how mutant ASXL1 drives clonal expansion and leukemogenesis will serve as the basis for the future development of preventative and/or therapeutic strategies for myeloid diseases with ASXL1 mutations. Here, we discuss the biology of ASXL1 and its role in controlling normal and malignant hematopoiesis. In addition, we review the clinical relevance of ASXL1 mutations in CHIP and myeloid diseases.

Original languageEnglish (US)
Pages (from-to)14-19
Number of pages6
JournalExperimental Hematology
StatePublished - Nov 2022

ASJC Scopus subject areas

  • Molecular Biology
  • Hematology
  • Genetics
  • Cell Biology
  • Cancer Research


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