PHF6 mutations in adult acute myeloid leukemia Academic Article uri icon


MeSH Major

  • Carrier Proteins
  • Leukemia, Myeloid, Acute
  • Mutation


  • 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.

publication date

  • January 2011



  • Academic Article



  • eng

PubMed Central ID

  • PMC3878659

Digital Object Identifier (DOI)

  • 10.1038/leu.2010.247

PubMed ID

  • 21030981

Additional Document Info

start page

  • 130

end page

  • 4


  • 25


  • 1