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- Title
Age, JAK2<sup>V617F</sup> and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
- Authors
Broséus, J; Alpermann, T; Wulfert, M; Florensa Brichs, L; Jeromin, S; Lippert, E; Rozman, M; Lifermann, F; Grossmann, V; Haferlach, T; Germing, U; Luño, E; Girodon, F; Schnittger, S
- Abstract
Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2V617F (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2V617F (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2V617F and SF3B1 mutations are the main predicting factors for survival in RARS-T.
- Subjects
APLASTIC anemia; WORLD Health Organization; GENETIC mutation; NOSOLOGY; THROMBOCYTOSIS
- Publication
Leukemia (08876924), 2013, Vol 27, Issue 9, p1826
- ISSN
0887-6924
- Publication type
Article
- DOI
10.1038/leu.2013.120