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PHF6 mutations in T-cell acute lymphoblastic leukemia

Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci, Claire Schwab

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Abstract

Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer(1,2). T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males(3). In this study, we report the identification of inactivating mutations and deletions in the X-linked plant homeodomain finger 6 (PHF6) gene in 16% of pediatric and 38% of adult primary T-ALL samples. Notably, PHF6 mutations are almost exclusively found in T-ALL samples from male subjects. Mutational loss of PHF6 is importantly associated with leukemias driven by aberrant expression of the homeobox transcription factor oncogenes TLX1 and TLX3. Overall, these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease.

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Author(s): Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippe J, Gonzalez-Garcia S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao XP, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2010

Volume: 42

Issue: 4

Pages: 338-342

Print publication date: 14/03/2010

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ng.542

DOI: 10.1038/ng.542

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