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Title: Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
Authors: Haferlach, T.
Nagata, Y.
Grossmann, V.
Okuno, Y.
Bacher, U.
Nagae, G.
Schnittger, S.
Sanada, M.
Kon, A.
Alpermann, T.
Yoshida, K.
Roller, A.
Nadarajah, N.
Shiraishi, Y.
Shiozawa, Y.
Chiba, K.
Tanaka, H.
Koeffler, H.P. 
Klein, H.-U.
Dugas, M.
Aburatani, H.
Kohlmann, A.
Miyano, S.
Haferlach, C.
Kern, W.
Ogawa, S.
Keywords: molecular markers
myelodysplastic syndromes
next-generation sequencing
prognostic score
Issue Date: Feb-2014
Citation: Haferlach, T., Nagata, Y., Grossmann, V., Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., Yoshida, K., Roller, A., Nadarajah, N., Shiraishi, Y., Shiozawa, Y., Chiba, K., Tanaka, H., Koeffler, H.P., Klein, H.-U., Dugas, M., Aburatani, H., Kohlmann, A., Miyano, S., Haferlach, C., Kern, W., Ogawa, S. (2014-02). Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 (2) : 241-247. ScholarBank@NUS Repository.
Abstract: High-throughput DNA sequencing significantly contributed to diagnosis and prognostication in patients with myelodysplastic syndromes (MDS). We determined the biological and prognostic significance of genetic aberrations in MDS. In total, 944 patients with various MDS subtypes were screened for known/putative mutations/deletions in 104 genes using targeted deep sequencing and array-based genomic hybridization. In total, 845/944 patients (89.5%) harbored at least one mutation (median, 3 per patient; range, 0-12). Forty-seven genes were significantly mutated with TET2, SF3B1, ASXL1, SRSF2, DNMT3A, and RUNX1 mutated in >10% of cases. Many mutations were associated with higher risk groups and/or blast elevation. Survival was investigated in 875 patients. By univariate analysis, 25/48 genes (resulting from 47 genes tested significantly plus PRPF8) affected survival (P
Source Title: Leukemia
ISSN: 08876924
DOI: 10.1038/leu.2013.336
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