T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in  PHF6 | Zendy

Chao Mwe Mwe | Zendy; Todd Matthew A. | Zendy; Kontny Udo | Zendy; Neas Katherine | Zendy; Sullivan Michael J. | Zendy; Hunter Alasdair G. | Zendy; Picketts David J. | Zendy; Kratz Christian P. | Zendy

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

Author(s) -

Chao Mwe Mwe,

Todd Matthew A.,

Kontny Udo,

Neas Katherine,

Sullivan Michael J.,

Hunter Alasdair G.,

Picketts David J.,

Kratz Christian P.

Publication year - 2010

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.22574

Subject(s) - zinc finger , medicine , blood cancer , germline , mutation , cancer research , germline mutation , leukemia , gene , lymphoblastic leukemia , cancer , genetics , biology , transcription factor

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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