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Blood, 28 May 2009, Vol. 113, No. 22, pp. 5583-5587. Prepublished online as a Blood First Edition Paper on April 8, 2009; DOI 10.1182/blood-2008-07-168260. This Article Full Text Full Text (PDF) Supplemental Table and Figure All Versions of this Article: blood-2008-07-168260v1 113/22/5583    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Preudhomme, C. Articles by Sobol, H. Search for Related Content PubMed PubMed Citation Articles by Preudhomme, C. Articles by Sobol, H. Related Collections Myeloid Neoplasia Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  MYELOID NEOPLASIA Brief report High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder Claude Preudhomme13, Aline Renneville13, Violaine Bourdon4, Nathalie Philippe13, Catherine Roche-Lestienne5, Nicolas Boissel6, Nathalie Dhedin7, Jean-Marie André8, Pascale Cornillet-Lefebvre9, André Baruchel10, Marie-Joelle Mozziconacci4, and Hagay Sobol4 1 Department of Hematology, Biology and Pathology Center, Centre Hospitalier Régional Universitaire (CHRU) of Lille, Lille; 2 Cancer Research Institute, JP Aubert Center, Inserm U-837, Team 3, Lille; 3 North-West Canceropole, Rouen; 4 Department of Genetic Oncology, Paoli Calmettes Institute, Marseille; 5 Department of Medical Genetics, Jeanne de Flandres Hospital, CHRU of Lille, Lille; 6 Department of Adult Hematology, Saint-Louis Hospital, Paris; 7 Department of Clinical Hematology, La Pitié-Salpétrière Hospital, Paris; 8 Department of Pediatric Onco-Hematology, Debrousse Hospital, Lyon; 9 Hematology Laboratory, CHRU of Reims, Reims; and 10 Department of Pediatric Hematology, Robert Debré Hospital, Paris, France Familial platelet disorder (FPD), a rare autosomal dominant disorder characterized by quantitative and qualitative platelet abnormalities, is considered as a model of genetic predisposition to acute myeloid leukemia (AML). So far, monoallelic RUNX1 germline mutations have been found in 19 of 20 families with reported FPD, and the analysis of blast cells from only 5 patients at acute leukemia (AL) stage has shown no additional RUNX1 abnormality. Here, we performed RUNX1 analysis at constitutional and somatic levels in 8 persons with FPD who developed AL from 4 independent families. In addition to the germline RUNX1 mutation, we identified a second RUNX1 alteration in 6 AML cases (acquired point mutations in 4 cases and duplication of the altered RUNX1 allele associated with acquired trisomy 21 in 2 other cases). Although haploinsufficiency of RUNX1 causes FPD, our findings suggest that a second genetic event involving RUNX1 is often associated with progression to AML. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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