Familial CEBPA-mutated Acute Myeloid Leukaemia

Familial  CEBPA-mutated AML represents a recognised leukemia predisposition syndrome with several families described in the literature, since the initial report in 2004. The pathological features and long term survival of individuals with familial CEBPA-mutated AML are reminiscent of sporadic CEBPAdm AML.   Germline mutations predominantly localise to the N-terminal and are associated with near complete penetrance, with age of AML onset from 2-50 years of age, frequently accompanied by the acquisition of a second CEBPA mutation in C-terminal domain.  Patients appear to have a significant risk of late relapse and these typically represent independent leukemic episodes, characterized by a unique molecular profile that is distinct from that of the preceding tumor.  While these patients respond well to salvage therapies, allogeneic HSCT should be considered for patients with high-risk feature s at presentation or recurrent disease, with the aim of eradicating the germline mutation and improving long term survival.

Source: Seminars in Hematology - April 6, 2017 Category: Hematology Authors: K. Tawana, A. Rio-Machin, C. Preudhomme, J. Fitzgibbon Source Type: research