T-Cell Acute Lymphoblastic Leukemia in Association With Borjeson-Forssman-Lehmann Syndrome Due To a Mutation in PHF6

Borjeson-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 BEES may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL Pediatr Blood Cancer 2010,55 722-724 (C) 2010 Wiley-Liss, Inc