Hereditary hematologic malignancies: a Canadian perspective

Abstract

When a patient is newly diagnosed with a malignancy, two common questions are often asked: 1) why did I get this cancer and 2) are my children or other family members at risk? In the case of hematologic malignancies, the standard response has been that the cause is unknown and family members are not at increased risk. However, hereditary predisposition to hematologic malignancies, especially myeloid malignancies, is becoming increasingly recognized, necessitating a change to this dogma. Hereditary hematologic malignancies are not as rare as previously believed, with an ever-increasing number of predisposition genes and alleles being discovered. Since the initial discovery of familial platelet disorder with associated myeloid malignancy (FPDMM) due to deleterious germline variants in RUNX1 in 1999, the list of predisposition genes, such as CEBPA, DDX41, ETV6, GATA2, and others continues to grow.