Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V super(+) advanced systemic mastocytosis

Most patients with KIT D816V super(+) advanced systemic mastocytosis (SM) are characterized by somatic mutations in additional genes. We sought to clarify the prognostic impact of such mutations. Genotype and clinical characteristics of 70 multi-mutated KIT D816V super(+) advanced SM patients were i...

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Published in:Leukemia 2016-01, Vol.30 (1), p.136-143
Main Authors: Jawhar, M, Schwaab, J, Schnittger, S, Meggendorfer, M, Pfirrmann, M, Sotlar, K, Horny, H-P, Metzgeroth, G, Kluger, S, Naumann, N, Haferlach, C, Haferlach, T, Valent, P, Hofmann, W-K, Fabarius, A, Cross, N C P, Reiter, A
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Language:English
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Summary:Most patients with KIT D816V super(+) advanced systemic mastocytosis (SM) are characterized by somatic mutations in additional genes. We sought to clarify the prognostic impact of such mutations. Genotype and clinical characteristics of 70 multi-mutated KIT D816V super(+) advanced SM patients were included in univariate and multivariate analyses. The most frequently identified mutated genes were TET2 (n=33 of 70 patients), SRSF2 (n=30), ASXL1 (n=20), RUNX1 (n=16) and JAK2 (n=11). In univariate analysis, overall survival (OS) was adversely influenced by mutations in SRSF2 (P
ISSN:0887-6924
DOI:10.1038/leu.2015.284