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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. [ABSTRACT FROM AUTHOR]

Background: Waldenström's macroglobulinemia is a rare B-cell lymphoma. The gold standard treatment for Waldenström's macroglobulinemia is an anti-CD20 antibody (rituximab) in combination with alkylating agents and dexamethasone. Treatment targeting the B-cell receptor such as ibrutinib (but not idelalisib) is currently approved for treatment of patients with relapsed or refractory Waldenström's macroglobulinemia.Case Presentation: We report a case of a 71-year-old white French man with Waldenström's macroglobulinemia who presented with acute renal failure and hyperviscosity syndrome. His Waldenström's macroglobulinemia was refractory to first-line treatment with rituximab, cyclophosphamide, and dexamethasone. Because of his hemorrhagic syndrome and medical history of recent myocardial infarction, we decided to treat him with idelalisib 150 mg twice daily instead of ibrutinib. We observed a very quick improvement in the patient's clinical status without need for dose adjustment.Conclusion: Our patient's case provides the first evidence, to the best of our knowledge, that idelalisib may be an efficient treatment option for patients with Waldenström's macroglobulinemia complicated by anuric renal failure and in whom ibrutinib is contraindicated. [ABSTRACT FROM AUTHOR]