Loss of function mutations and deletions encompassing the PHF6 gene are present in about 20% of T-cell acute lymphoblastic leukemias. Here we report the identification of recurrent mutations in PHF6 in 10/353 adult acute myeloid leukemias (AML). Genetic lesions in PHF6 found in AML are frameshift and nonsense mutations distributed through the gene or point mutations involving the second 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 7 times more prevalent in males than in females with AML. Overall these results identify PHF6 as a tumor suppressor mutated in AML and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors.
Keywords: PHF6, mutations, AML