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PHF6 mutations in adult acute myeloid leukemia

(2011) LEUKEMIA. 25(1). p.130-134
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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.
Keywords
PHF6, mutations, TET2, T-ALL, GENE-EXPRESSION, ACTIVATING FLT3 MUTATIONS, FORSSMAN-LEHMANN-SYNDROME, AML, ACUTE LYMPHOBLASTIC-LEUKEMIA, LINEAGE, GENOME, COMMON, FUSION

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Chicago
Van Vlierberghe, Pieter, J Patel, O Abdel-Wahab, C Lobry, CV Hedvat, M Balbin, C Nicolas, et al. 2011. “PHF6 Mutations in Adult Acute Myeloid Leukemia.” Leukemia 25 (1): 130–134.
APA
Van Vlierberghe, P., Patel, J., Abdel-Wahab, O., Lobry, C., Hedvat, C., Balbin, M., Nicolas, C., et al. (2011). PHF6 mutations in adult acute myeloid leukemia. LEUKEMIA, 25(1), 130–134.
Vancouver
1.
Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat C, Balbin M, et al. PHF6 mutations in adult acute myeloid leukemia. LEUKEMIA. 2011;25(1):130–4.
MLA
Van Vlierberghe, Pieter, J Patel, O Abdel-Wahab, et al. “PHF6 Mutations in Adult Acute Myeloid Leukemia.” LEUKEMIA 25.1 (2011): 130–134. Print.
@article{1166554,
  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.},
  author       = {Van Vlierberghe, Pieter and Patel, J and Abdel-Wahab, O and Lobry, C and Hedvat, CV and Balbin, M and Nicolas, C and Payer, AR and Fernandez, HF and Tallman, MS and Paietta, E and Melnick, A and Vandenberghe, P and Speleman, Franki and Aifantis, I and Cools, J and Levine, R and Ferrando, A},
  issn         = {0887-6924},
  journal      = {LEUKEMIA},
  keywords     = {PHF6,mutations,TET2,T-ALL,GENE-EXPRESSION,ACTIVATING FLT3 MUTATIONS,FORSSMAN-LEHMANN-SYNDROME,AML,ACUTE LYMPHOBLASTIC-LEUKEMIA,LINEAGE,GENOME,COMMON,FUSION},
  language     = {eng},
  number       = {1},
  pages        = {130--134},
  title        = {PHF6 mutations in adult acute myeloid leukemia},
  url          = {http://dx.doi.org/10.1038/leu.2010.247},
  volume       = {25},
  year         = {2011},
}

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