Clonal hematopoiesis and bone marrow failure syndromes

Sergiu Pasca, Lukasz P. Gondek

Research output: Contribution to journalReview articlepeer-review


Bone marrow failure syndromes (BMF) are a group of conditions characterized by inefficient hematopoiesis frequently associated with extra-hematopoietic phenotypes and variable risk of progression to myeloid malignancies. They can be acquired or inherited and mediated by either cell extrinsic factors or cell intrinsic impairment of hematopoietic stem cell (HSC) function. The pathophysiology includes immune-mediated attack (e.g., acquired BMFs) or germline defects in DNA damage repair machinery, telomeres maintenance or ribosomes biogenesis. (e.g., inherited BMF). Clonal hematopoiesis (CH) that frequently accompanies BMF may provide a mechanism of improved HSC fitness through the evasion of extracellular pressure or somatic reversion of germline defects. The mechanism for the CH selective advantage differs depending on the condition in which it occurs. However, this adaptation mechanism, particularly when involving putative oncogenes or tumor suppressors, may lead to increased risk of myeloid malignancies. Surveillance and early detection of leukemogenic clones may lead to timely implementation of curative therapies and improved survival.

Original languageEnglish (US)
Article number101273
JournalBest Practice and Research: Clinical Haematology
Issue number2
StatePublished - Jun 2021


  • Bone marrow failure
  • Clonal hematopoiesis
  • Leukemic transformation
  • Somatic reversion

ASJC Scopus subject areas

  • Oncology
  • Clinical Biochemistry


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