De-novo acute myeloid leukemia in a BRCA positive female with locally treated ductal carcinoma In Situ

Abstract

Acute myeloid leukemia (AML) is primarily a disease of older adults and can arise de novo, in relation to previous treatment or in the setting of underlying hematological disease. While it is known to arise from chemoradiation in the setting of breast cancer, little is known about the association between BRCA carriers and AML. We report a case of a young female BRCA carrier who develops de novo AML without prior chemoradiation treatment, and examine if there is a link between BRCA and developing leukemia.

Clinical outcomes of therapy-related acute myeloid leukemia: over 20 years long single center retrospective analysis

“…Interestingly, despite the known effect of cytotoxic chemotherapy on t-MN development, some data suggested an association between the BRCA DNA sequence variants and the increased risk of de novo leukemia development. This process involved inactivation of error-free repair process for double-stranded DNA repair within BRCA1/BRCA2 protein pathway in breast cancer survivors [23]. Some sources report that modern solid tumor therapies using poly (ADP-ribose) polymerase inhibitors (PARPi) (e.g., olaparib) have been associated with higher risk of t-MN [24].…”