Please use this identifier to cite or link to this item: https://doi.org/10.1182/blood-2012-01-404863
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dc.titleSRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)
dc.contributor.authorMeggendorfer, M.
dc.contributor.authorRoller, A.
dc.contributor.authorHaferlach, T.
dc.contributor.authorEder, C.
dc.contributor.authorDicker, F.
dc.contributor.authorGrossmann, V.
dc.contributor.authorKohlmann, A.
dc.contributor.authorAlpermann, T.
dc.contributor.authorYoshida, K.
dc.contributor.authorOgawa, S.
dc.contributor.authorKoeffler, H.P.
dc.contributor.authorKern, W.
dc.contributor.authorHaferlach, C.
dc.contributor.authorSchnittger, S.
dc.date.accessioned2016-09-06T08:42:15Z
dc.date.available2016-09-06T08:42:15Z
dc.date.issued2012-10-11
dc.identifier.citationMeggendorfer, M., Roller, A., Haferlach, T., Eder, C., Dicker, F., Grossmann, V., Kohlmann, A., Alpermann, T., Yoshida, K., Ogawa, S., Koeffler, H.P., Kern, W., Haferlach, C., Schnittger, S. (2012-10-11). SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood 120 (15) : 3080-3088. ScholarBank@NUS Repository. https://doi.org/10.1182/blood-2012-01-404863
dc.identifier.issn00064971
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/126858
dc.description.abstractWe analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2V617F, KRAS, NRAS, RUNX1, and TET2 mutations were investigated in subcohorts. Mutations in SRSF2 (SRSF2mut) were detected in 47% (129 of 275) of all cases. In detail, 120 cases had a missense mutation at Pro95, leading to a change to Pro95His, Pro95Leu, Pro95Arg, Pro95Ala, or Pro95Thr. In 9 cases, 3 new in/del mutations were observed: 7 cases with a 24-bp deletion, 1 case with a 3-bp duplication, and 1 case with a 24-bp duplication. In silico analyses predicted a damaging character for the protein structure of SRSF2 for all mutations. SRSF2mut was correlated with higher age, less pronounced anemia, and normal karyotype. SRSF2mut and EZH2mut were mutually exclusive, but SRSF2mut was associated with TET2mut. In the total cohort, no effect of SRSF2mut on survival was observed. However, in the RUNX1mut subcohort, SRSF2 Pro95His had a favorable effect on overall survival. This comprehensive mutation analysis found that 93% of all patients with CMML carried at least 1 somatic mutation in 9 recurrently mutated genes. In conclusion, these data show the importance of SRSF2mut as new diagnostic marker in CMML. © 2012 by The American Society of Hematology.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1182/blood-2012-01-404863
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentMEDICINE
dc.description.doi10.1182/blood-2012-01-404863
dc.description.sourcetitleBlood
dc.description.volume120
dc.description.issue15
dc.description.page3080-3088
dc.description.codenBLOOA
dc.identifier.isiut000311619300025
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