Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/61235
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Type: Journal article
Title: PHF6 mutations in T-cell acute lymphoblastic leukemia
Author: Van Vlierberghe, P.
Palomero, T.
Khiabanian, H.
Van der Meulen, J.
Castillo, M.
Van Roy, N.
De Moerloose, B.
Philippe, J.
Gonzalez-Garcia, M.
Toribio, M.
Taghon, T.
Zuurbier, L.
Cauwelier, B.
Harrison, C.
Schwab, C.
Pisecker, M.
Strehl, S.
Langerak, A.
Gecz, J.
Sonneveld, E.
et al.
Citation: Nature Genetics, 2010; 42(4):338-342
Publisher: Nature Publishing Group
Issue Date: 2010
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Pieter Van Vlierberghe...Jozef Gecz... et al.
Abstract: Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. 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.
Keywords: Chromosomes, Human, X; Humans; Carrier Proteins; Homeodomain Proteins; Proto-Oncogene Proteins; Mutation; Genes, Tumor Suppressor; Adult; Child; Female; Male; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Comparative Genomic Hybridization; DNA Copy Number Variations; Genetic Linkage
Rights: © 2010 Nature America, Inc. All rights reserved.
RMID: 0020096009
DOI: 10.1038/ng.542
Appears in Collections:Paediatrics publications

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