Pediatr Blood Cancer. 2010 Oct;55(4):722-4.

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

Chao MM, Todd MA, Kontny U, Neas K, Sullivan MJ, Hunter AG, Picketts DJ, Kratz CP.

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Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.

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.

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Pediatr Blood Cancer. 2010 Oct;55(4):595-6.

PMID:: 20806366; [PubMed - indexed for MEDLINE]
PMCID:: PMC2933084

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Cited by 2 PubMed Central articles

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. [Mol Syndromol. 2011]
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Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia. [Haematologica. 2011]
Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
Wang Q, Qiu H, Jiang H, Wu L, Dong S, Pan J, Wang W, Ping N, Xia J, Sun A, et al. Haematologica. 2011 Dec; 96(12):1808-14. Epub 2011 Aug 31.

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