Document Detail

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
MedLine Citation:
PMID:  19357396     Owner:  NLM     Status:  MEDLINE    
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.
Claude Preudhomme; Aline Renneville; Violaine Bourdon; Nathalie Philippe; Catherine Roche-Lestienne; Nicolas Boissel; Nathalie Dhedin; Jean-Marie André; Pascale Cornillet-Lefebvre; André Baruchel; Marie-Joelle Mozziconacci; Hagay Sobol
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-04-08
Journal Detail:
Title:  Blood     Volume:  113     ISSN:  1528-0020     ISO Abbreviation:  Blood     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-05-29     Completed Date:  2009-06-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  5583-7     Citation Subset:  AIM; IM    
Department of Hematology, Biology and Pathology Center, Centre Hospitalier Régional Universitaire (CHRU) of Lille, Lille, France.
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MeSH Terms
Blood Platelet Disorders / complications,  genetics*
Core Binding Factor Alpha 2 Subunit / genetics*
Gene Frequency
Leukemia, Myeloid, Acute / etiology,  genetics*
Middle Aged
Precancerous Conditions / genetics
Young Adult
Reg. No./Substance:
0/Core Binding Factor Alpha 2 Subunit; 0/RUNX1 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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