PHF6 mutations in adult acute myeloid leukemia

P. Van Vlierberghe, J. Patel, O. Abdel-Wahab, C. Lobry, C. V. Hedvat, M. Balbin, C. Nicolas, A. R. Payer, H. F. Fernandez, M. S. Tallman, Elisabeth M. Paietta, A. Melnick, P. Vandenberghe, F. Speleman, I. Aifantis, J. Cools, R. Levine, A. Ferrando

Research output: Contribution to journalArticle

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Abstract

Loss of function mutations and deletions encompassing the plant homeodomain finger 6 (PHF6) gene are present in about 20% of T-cell acute lymphoblastic leukemias (ALLs). Here, we report the identification of recurrent mutations in PHF6 in 10/353 adult acute myeloid leukemias (AMLs). Genetic lesions in PHF6 found in AMLs are frameshift and nonsense mutations distributed through the gene or point mutations involving the second plant homeodomain (PHD)-like domain of the protein. As in the case of T-ALL, where PHF6 alterations are found almost exclusively in males, mutations in PHF6 were seven times more prevalent in males than in females with AML. Overall, these results identify PHF6 as a tumor suppressor gene mutated in AML and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors.

Original languageEnglish (US)
Pages (from-to)130-134
Number of pages5
JournalLeukemia
Volume25
Issue number1
DOIs
StatePublished - Jan 2011

Fingerprint

Acute Myeloid Leukemia
Mutation
Tumor Suppressor Genes
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Frameshift Mutation
Nonsense Codon
Sequence Deletion
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Point Mutation
Genes
Neoplasms

Keywords

  • AML
  • mutations
  • PHF6

ASJC Scopus subject areas

  • Hematology
  • Cancer Research
  • Anesthesiology and Pain Medicine

Cite this

Van Vlierberghe, P., Patel, J., Abdel-Wahab, O., Lobry, C., Hedvat, C. V., Balbin, M., ... Ferrando, A. (2011). PHF6 mutations in adult acute myeloid leukemia. Leukemia, 25(1), 130-134. https://doi.org/10.1038/leu.2010.247

PHF6 mutations in adult acute myeloid leukemia. / Van Vlierberghe, P.; Patel, J.; Abdel-Wahab, O.; Lobry, C.; Hedvat, C. V.; Balbin, M.; Nicolas, C.; Payer, A. R.; Fernandez, H. F.; Tallman, M. S.; Paietta, Elisabeth M.; Melnick, A.; Vandenberghe, P.; Speleman, F.; Aifantis, I.; Cools, J.; Levine, R.; Ferrando, A.

In: Leukemia, Vol. 25, No. 1, 01.2011, p. 130-134.

Research output: Contribution to journalArticle

Van Vlierberghe, P, Patel, J, Abdel-Wahab, O, Lobry, C, Hedvat, CV, Balbin, M, Nicolas, C, Payer, AR, Fernandez, HF, Tallman, MS, Paietta, EM, Melnick, A, Vandenberghe, P, Speleman, F, Aifantis, I, Cools, J, Levine, R & Ferrando, A 2011, 'PHF6 mutations in adult acute myeloid leukemia', Leukemia, vol. 25, no. 1, pp. 130-134. https://doi.org/10.1038/leu.2010.247
Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat CV, Balbin M et al. PHF6 mutations in adult acute myeloid leukemia. Leukemia. 2011 Jan;25(1):130-134. https://doi.org/10.1038/leu.2010.247
Van Vlierberghe, P. ; Patel, J. ; Abdel-Wahab, O. ; Lobry, C. ; Hedvat, C. V. ; Balbin, M. ; Nicolas, C. ; Payer, A. R. ; Fernandez, H. F. ; Tallman, M. S. ; Paietta, Elisabeth M. ; Melnick, A. ; Vandenberghe, P. ; Speleman, F. ; Aifantis, I. ; Cools, J. ; Levine, R. ; Ferrando, A. / PHF6 mutations in adult acute myeloid leukemia. In: Leukemia. 2011 ; Vol. 25, No. 1. pp. 130-134.
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