T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in PHF6
- 25 August 2010
- journal article
- research article
- Published by Wiley in Pediatric Blood & Cancer
- Vol. 55 (4) , 722-724
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. Pediatr Blood Cancer. 2010;55:722–724.Keywords
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