Document Detail

Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors.
MedLine Citation:
PMID:  23280334     Owner:  NLM     Status:  MEDLINE    
Recurrent somatic mutations in splicing machinery components, including SF3B1, U2AF1 and SRSF2 genes have recently been reported in myelodysplastic syndromes (MDS). Such a recurrent nature strongly suggests that these mutations play important roles in tumor development. To see whether SF3B1, U2AF1 and SRSF2 mutations occur in other human tumors besides MDS, we analyzed the hotspot mutation regions of these genes in 2,345 tumor tissues from various origins (61 MDS, other 616 hematologic tumors, 1,421 epithelial tumors and 247 non-epithelial stromal tumors) by single-strand conformation polymorphism analysis. We found SF3B1, U2AF1 and SRSF2 mutations in 5 (8.2%), 12 (19.7%) and 8 (13.1%) of 61 MDS, respectively. We also confirmed these mutations in other myeloid neoplasia, including de novo acute myelogenous leukemia (AML), chronic myelomonocytic leukemia and MDS/myeloproliferative disorder. In addition, we discovered that the SRSF2 gene was mutated in two childhood acute lymphoblastic leukemias (childhood ALL) (1.5%). In solid tumors, we found SF3B1 mutations in gastric and prostate cancers, and U2AF1 mutation in a borderline mucinous tumor of ovary, but the overall incidences of the hotspot mutation regions were very low (0.2%). Our data suggest that SF3B1, U2AF1 and SRSF2 mutations occur not only in myeloid lineage tumors but also in lymphoid lineage tumors. The data suggest that the splicing gene mutations play important roles in the pathogenesis of hematologic tumors, but rarely in solid tumors.
Eun Mi Je; Nam Jin Yoo; Yoo Jin Kim; Myung Shin Kim; Sug Hyung Lee
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-02-05
Journal Detail:
Title:  International journal of cancer. Journal international du cancer     Volume:  133     ISSN:  1097-0215     ISO Abbreviation:  Int. J. Cancer     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-04-22     Completed Date:  2013-06-11     Revised Date:  2013-07-22    
Medline Journal Info:
Nlm Unique ID:  0042124     Medline TA:  Int J Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  260-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 UICC.
Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, 137-701, Korea.
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MeSH Terms
Asian Continental Ancestry Group
DNA Mutational Analysis
Hematologic Neoplasms / genetics
Middle Aged
Myelodysplastic Syndromes / genetics
Myelodysplastic-Myeloproliferative Diseases / genetics*
Neoplasms / genetics*
Neoplasms, Glandular and Epithelial / genetics
Nuclear Proteins / genetics*
Phosphoproteins / genetics*
Polymorphism, Single-Stranded Conformational
RNA Splicing*
Ribonucleoprotein, U2 Small Nuclear / genetics*
Ribonucleoproteins / genetics*
Reg. No./Substance:
0/Nuclear Proteins; 0/Phosphoproteins; 0/Ribonucleoprotein, U2 Small Nuclear; 0/Ribonucleoproteins; 0/SF3B1 protein, human; 0/U2AF1 protein, human; 147153-65-9/SRSF2 protein, human

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