Article
SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML).
Blood - 11 Oct 2012
Meggendorfer Manja, Roller Andreas, Haferlach Torsten, Eder Christiane, Dicker Frank, Grossmann Vera, Kohlmann Alexander, Alpermann Tamara, Yoshida Kenichi, Ogawa Seishi, Koeffler H Phillip, Kern Wolfgang, Haferlach Claudia, Schnittger Susanne
Abstract excerpt
We 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,...
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