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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.