T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Book series | Pediatric Blood and Cancer |
Volume | 55 |
Issue number | 4 |
Pages (from-to) | 722-724 |
Number of pages | 3 |
ISSN | 1545-5009 |
DOIs | |
Publication status | Published - Oct 2010 |
Externally published | Yes |
- Börjeson-Forssman-Lehmann syndrome, PHF6, T-cell ALL/lymphoma
Research areas
ID: 319873959