Cancer predisposition syndromes associated with myeloid malignancy

Abstract

The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. We review the demographics, genetic mechanisms of disease, diagnostic approach, malignancy risk, and management for the following five cancer predisposition syndromes associated with myeloid malignancies: Li-Fraumeni, constitutional mismatch repair deficiency, Werner, Bloom, and Nijmegen breakage.

Keywords: Acute myeloid leukemia; Germline; Hereditary cancer; Leukemia predisposition; Myelodysplastic syndrome.