Clonal hematopoiesis in cancer predisposition syndromes

After recent advances in sequencing technologies led to the discovery of novel genes associated with predisposition to hematological malignancies, studies have now shown that myeloid neoplasms associated with germline variants are more common than previously estimated. Based on these findings, myeloid neoplasms with germline predisposition have emerged as a unique category in the recent World Health Organization classification of Haematolymphoid Tumors. Clonal hematopoiesis is common in healthy individuals, particularly in older people. In patients with germline predisposition to hematological malignancies, clonal hematopoiesis is frequently observed at younger ages and is often associated with unique disease-specific driver mutations, some of which are hypothesized to compensate for the inherited defect. This review summarizes recent findings on clonal hematopoiesis in cancer predisposition syndromes.