Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

ABSTRACT: Recognition that germline mutations can predispose individuals to blood cancers, often presenting as secondary leukemias, has largely been driven in the last 20 years by studies of families with inherited mutations in the myeloid transcription factors (TFs) RUNX1, GATA2, and CEBPA. As a result, in 2016, classification of myeloid neoplasms with germline predisposition for each of these and other genes was added to the World Health Organization guidelines. The incidence of germline mutation carriers in the general population or in various clinically presenting patient groups remains poorly defined for reasons including that somatic mutations in these genes are common in blood cancers, and our ability to distinguish germline (inherited or de novo) and somatic mutations is often limited by the

SUBMITTER: Brown AL 

PROVIDER: S-EPMC7332898 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature