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

Pediatric Blood & Cancer (Impact Factor: 2.39). 10/2010; 55(4):722 - 724. DOI: 10.1002/pbc.22574


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. Pediatr Blood Cancer. 2010;55:722–724. © 2010 Wiley-Liss, Inc.

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