T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
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.
Chao
Mwe Mwe
MM
Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.
Todd
Matthew A
MA
Kontny
Udo
U
Neas
Katherine
K
Sullivan
Michael J
MJ
Hunter
Alasdair G
AG
Picketts
David J
DJ
Kratz
Christian P
CP
D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012097:Repressor Proteins
D002352:Carrier Proteins; C502542:PHF6 protein, human; D012097:Repressor Proteins
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