T-cell acute lymphoblastic leukemia in association with Borjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.

ABSTRACT: Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL.

SUBMITTER: Chao MM 

PROVIDER: S-EPMC2933084 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature