Genetic predisposition to leukemia and other hematologic malignancies

Semin Oncol. 2016 Oct;43(5):598-608. doi: 10.1053/j.seminoncol.2016.10.003. Epub 2016 Oct 25.


In this review, we provide an overview of familial myelodysplastic syndromes (MDS)/acute leukemia (AL) and bone marrow failure syndromes, as well as insights into familial myeloproliferative neoplasms (MPNs), familial multiple myeloma (MM), familial Waldenström macroglobulinemia (WM), familial lymphoma, and cancer predisposition syndromes with increased risk of MDS/AL. This field will continue to accelerate as next-generation sequencing (NGS) techniques identify novel predisposition alleles in families with a genetic predisposition to hematologic malignancies. Newly identified predisposition genes continue to inform the field of inherited leukemia and other hematologic malignancies. Current developments in clinical translation include techniques detailing the acquisition of appropriate germline material for patient work-ups, methods for genetic testing, and nuances essential for the treatment and clinical management of patients with a genetic predisposition to hematologic malignancies.

Keywords: Familial leukemia; Genetic risk.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Humans
  • Leukemia / etiology
  • Leukemia / genetics*
  • Leukemia / therapy
  • Lymphoma / etiology
  • Lymphoma / genetics*
  • Myelodysplastic Syndromes / etiology
  • Myelodysplastic Syndromes / genetics