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SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
MedLine Citation:
PMID:  23628959     Owner:  NLM     Status:  Publisher    
Chronic myeloid malignancies are categorized to the three main categories myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS) and MDS/MPN overlap. So far, no specific genetic alteration profiles have been identified in the MDS/MPN overlap category. Recent studies identified mutations in SETBP1 as novel marker in myeloid malignancies, especially in atypical CML (aCML) and related diseases. We analyzed SETBP1 in 1,130 patients with MPN and MDS/MPN overlap and found mutation frequencies of 3.8% and 9.4%, respectively. In particular, there was a high frequency of SETBP1 mutation in aCML (19/60; 31.7%) and MDS/MPN unclassifiable (MDS/MPN, U) (20/240; 9.3%). SETBP1 mutated (SETBP1mut) patients showed significantly higher white blood cell counts and lower platelet counts and haemoglobin levels than SETBP1 wild-type patients. Cytomorphologic evaluation revealed a more dysplastic phenotype in SETBP1mut cases as compared to wild type cases. We confirm a significant association of SETBP1mut with -7 and isochromosome i(17)(q10). Moreover, SETBP1mut were strongly associated with ASXL1 and CBL mutations (P<0.001 for both) and were mutually exclusive of JAK2 and TET2 mutations. In conclusion, SETBP1mut add an important new diagnostic marker for MDS/MPN and in particular for aCML.Leukemia accepted article preview online, 30 April 2013; doi:10.1038/leu.2013.133.
M Meggendorfer; U Bacher; T Alpermann; C Haferlach; W Kern; C Gambacorti-Passerini; T Haferlach; S Schnittger
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-4-30
Journal Detail:
Title:  Leukemia     Volume:  -     ISSN:  1476-5551     ISO Abbreviation:  Leukemia     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-4-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8704895     Medline TA:  Leukemia     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
MLL Munich Leukemia Laboratory, Munich, Germany.
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