Germline Predisposition to Myelodysplastic Syndromes

Cancer J. 2023 May-Jun;29(3):143-151. doi: 10.1097/PPO.0000000000000660.

Abstract

While germline predisposition to myelodysplastic syndromes is well-established, knowledge has advanced rapidly resulting in more cases of inherited hematologic malignancies being identified. Understanding the biological features and main clinical manifestations of hereditary hematologic malignancies is essential to recognizing and referring patients with myelodysplastic syndrome, who may underlie inherited predisposition, for appropriate genetic evaluation. Importance lies in individualized genetic counseling along with informed treatment decisions, especially with regard to hematopoietic stem cell transplant-related donor selection. Future studies will improve comprehension of these disorders, enabling better management of affected patients and their families.

MeSH terms

  • Genetic Counseling / methods
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Hematologic Neoplasms* / therapy
  • Humans
  • Myelodysplastic Syndromes* / etiology
  • Myelodysplastic Syndromes* / genetics