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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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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.

Publication metadata

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


DOI: 10.1038/ng.542


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Funder referenceFunder name
Belgian Program of Interuniversity Poles of Attraction
ECOG tumor bank
Golfers against Cancer Foundation
Leukemia and Lymphoma Society
Rally across America Foundation
Swim across America Foundation
Alex's Lemonade Stand Foundation
Belgian Foundation against Cancer
Children Cancer Fund Ghent
DCOG tumor bank
Fundacion Ramon Areces
Leukemia Research UK
1R01LM010140-01US National Library of Medicine
BFU 2007-60990Spain's Plan Nacional
G.0198.08Fund for Scientific Research (FWO) Flanders
G.0869.10NFund for Scientific Research (FWO) Flanders
GZ 200.136/1-VI/1/2005Austrian Ministry of Science and Research
KiKa 2007-012Stichting Kinderen Kankervrij
PlanE2009-0110Spain's Plan Nacional
R01CA120196US National Institutes of Health
R01CA129382US National Institutes of Health
RECAVA RD06/0014/1012Fundacion MM
U54-AI057158US Northeast Biodefense Center
S-SAL0304-2006Comunidad de Madrid