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Title: T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
Authors: Chao MM,  Todd MA,  Kontny U,  Neas K,  Sullivan MJ,  Hunter AG,  Picketts DJ,  Kratz CP
Journal: Pediatr Blood Cancer
Date: 2010 Oct
Branches: CGB
PubMed ID: 20806366
PMC ID: PMC2933084
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.