Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition

Juehua Gao*, Yihua Chen, Madina Sukhanova

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


Myeloid neoplasms with germline predisposition have recently been added as distinct provisional entities in the 2017 revision of the World Health Organization’s classification of tumors of hematopoietic and lymphatic tissue. Individuals with germline predisposition have increased risk of developing myeloid neoplasms—mainly acute myeloid leukemia and myelodysplastic syndrome. Although the incidence of myeloid neoplasms with germline predisposition remains poorly defined, these cases provide unique and important insights into the biology and molecular mechanisms of myeloid neoplasms. Knowledge of the regulation of the germline genes and their interactions with other genes, proteins, and the environment, the penetrance and clinical presentation of inherited mutations, and the longitudinal dynamics during the process of disease progression offer models and tools that can further our understanding of myeloid neoplasms. This knowledge will eventually translate to improved disease sub-classification, risk assessment, and development of more effective therapy. In this review, we will use examples of these disorders to illustrate the key molecular pathways of myeloid neoplasms.

Original languageEnglish (US)
Article number46
Issue number1
StatePublished - Jan 2022


  • Germline predisposition
  • Myeloid neoplasm
  • Pathways

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry, Genetics and Molecular Biology(all)
  • Palaeontology
  • Space and Planetary Science


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