T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in PHF6
Copyright policy )T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in PHF6
AbstractBörjeson–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.
- Children's Hospital of Eastern Ontario Canada
- National Institutes of Health United States
- University of Ottawa Canada
- Children’s National Health System United States
- Wellington Management Company United States
Male, Repressor Proteins, X-Linked Intellectual Disability, Mutation, Humans, Carrier Proteins, Child, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Male, Repressor Proteins, X-Linked Intellectual Disability, Mutation, Humans, Carrier Proteins, Child, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
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