PHF6 mutations in adult acute myeloid leukemia Journal Article

   


Authors: 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, E.; Melnick, A.; Vandenberghe, P.; Speleman, F.; Aifantis, I.; Cools, J.; Levine, R.; Ferrando, A.
Article Title: PHF6 mutations in adult acute myeloid leukemia
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. © 2011 Macmillan Publishers Limited All rights reserved.
Keywords: adult; aged; unclassified drug; acute granulocytic leukemia; gene mutation; sequence analysis; frameshift mutation; pathogenesis; nonhuman; animal cell; mouse; animal tissue; cell population; stem cell; tumor suppressor gene; thymus; quantitative analysis; gene identification; real time polymerase chain reaction; bone marrow cell; homeodomain protein; animal cell culture; point mutation; myeloid progenitor cell; nonsense mutation; cell selection; spleen cell; mutations; aml; phf6; plant homeodomain finger 6 protein; copy number variation; lymphoid cell
Journal Title: Leukemia
Volume: 25
Issue: 1
ISSN: 0887-6924
Publisher: Nature Publishing Group  
Date Published: 2011-01-01
Start Page: 130
End Page: 134
Language: English
DOI: 10.1038/leu.2010.247
PROVIDER: scopus
PUBMED: 21030981
PMCID: PMC3878659
DOI/URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-78651299314&partnerID=40&md5=ba03d0a0320ead6ed2f5f949c2a998f3
Notes: --- - "Export Date: 4 March 2011" - "CODEN: LEUKE" - "Source: Scopus"
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MSK Authors
  1. Cyrus Hedvat
    126 Hedvat
  2. Martin Stuart Tallman
    649 Tallman
  3. Ross Levine
    775 Levine
  4. Omar Ibrahim Abdel-Wahab
    573 Abdel-Wahab
  5. Jay Prakash Patel
    54 Patel
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