PHF6 mutations in T-cell acute lymphoblastic leukemia

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dc.contributor.authorVan Vlierberghe, P.
dc.contributor.authorPalomero, T.
dc.contributor.authorKhiabanian, H.
dc.contributor.authorVan der Meulen, J.
dc.contributor.authorCastillo, M.
dc.contributor.authorVan Roy, N.
dc.contributor.authorDe Moerloose, B.
dc.contributor.authorPhilippe, J.
dc.contributor.authorGonzalez-Garcia, M.
dc.contributor.authorToribio, M.
dc.contributor.authorTaghon, T.
dc.contributor.authorZuurbier, L.
dc.contributor.authorCauwelier, B.
dc.contributor.authorHarrison, C.
dc.contributor.authorSchwab, C.
dc.contributor.authorPisecker, M.
dc.contributor.authorStrehl, S.
dc.contributor.authorLangerak, A.
dc.contributor.authorGecz, J.
dc.contributor.authorSonneveld, E.
dc.contributor.authoret al.
dc.date.issued2010
dc.description.abstractTumor 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.
dc.description.statementofresponsibilityPieter Van Vlierberghe...Jozef Gecz... et al.
dc.identifier.citationNature Genetics, 2010; 42(4):338-342
dc.identifier.doi10.1038/ng.542
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/61235
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2010 Nature America, Inc. All rights reserved.
dc.source.urihttps://doi.org/10.1038/ng.542
dc.subjectChromosomes, Human, X
dc.subjectHumans
dc.subjectCarrier Proteins
dc.subjectHomeodomain Proteins
dc.subjectProto-Oncogene Proteins
dc.subjectRepressor Proteins
dc.subjectMutation
dc.subjectGenes, Tumor Suppressor
dc.subjectAdult
dc.subjectChild
dc.subjectFemale
dc.subjectMale
dc.subjectPrecursor T-Cell Lymphoblastic Leukemia-Lymphoma
dc.subjectComparative Genomic Hybridization
dc.subjectDNA Copy Number Variations
dc.subjectGenetic Linkage
dc.titlePHF6 mutations in T-cell acute lymphoblastic leukemia
dc.typeJournal article
pubs.publication-statusPublished

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