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, E. Paietta, A. Melnick, P. Vandenberghe, F. Speleman, I. Aifantis, J. Cools, R. Levine, A. Ferrando*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

134 Scopus citations


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
Issue number1
StatePublished - Jan 2011


  • AML
  • PHF6
  • mutations

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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