Sporadic and endemic Burkitt lymphoma have frequent <i>FOXO1</i> mutations but distinct hotspots in the AKT recognition motif.

ABSTRACT: FOXO1 has an oncogenic role in adult germinal center-derived lymphomas, in which mutations, predominately within the AKT recognition motif, cause nuclear retention of FOXO1, resulting in increased cell proliferation. To determine the prevalence and distribution of FOXO1 mutations in pediatric Burkitt lymphoma (BL), we sequenced a large number of sporadic and endemic BL patient samples. We report a high frequency of FOXO1 mutations in both sporadic and endemic BL at diagnosis, occurring in 23/78 (29%) and 48/89 (54%) samples, respectively, as well as 8/16 (50%) cases at relapse. Mutations of T24 were the most common in sporadic BL but were rare in endemic cases, in which mutations of residue S22, also within the AKT recognition motif, were the most frequent. FOXO1 mutat

SUBMITTER: Zhou P 

PROVIDER: S-EPMC6650741 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature