Impact of splicing factor mutations on clinical features in patients with myelodysplastic syndromes
| Autor: | Yosuke Ogata, Hiroko Iizuka, Yuka Harada, Norio Komatsu, Noriko Doki, Masao Hagihara, Kazuteru Ohashi, Naoki Shingai, Hironori Harada |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Erythrocyte Indices Male 0301 basic medicine Oncology medicine.medical_specialty DNA Mutational Analysis Kaplan-Meier Estimate Gene mutation medicine.disease_cause 03 medical and health sciences Splicing factor 0302 clinical medicine Bone Marrow hemic and lymphatic diseases Internal medicine medicine Humans Blood Transfusion Cumulative incidence Mean corpuscular volume Genetic Association Studies Aged Proportional Hazards Models Aged 80 and over Mutation Hematology medicine.diagnostic_test business.industry Myelodysplastic syndromes Middle Aged Prognosis medicine.disease Blood Cell Count 030104 developmental biology Myelodysplastic Syndromes 030220 oncology & carcinogenesis Refractory anemia with ring sideroblasts Female RNA Splicing Factors Symptom Assessment business Biomarkers |
| Zdroj: | International Journal of Hematology. 108:598-606 |
| ISSN: | 1865-3774 0925-5710 |
| DOI: | 10.1007/s12185-018-2551-y |
| Popis: | Splicing factor gene mutations are found in 60-70% of patients with myelodysplastic syndromes (MDS). We investigated the effects of splicing factor gene mutations on the diagnosis, patient characteristics, and prognosis of MDS. A total of 106 patients with MDS were included. The percentage of patients with MDS with ring sideroblasts (14.15%) as per the 2017 WHO classification was significantly higher than that of patients with refractory anemia with ring sideroblasts (2.88%) as per the 2008 WHO classification (P = 0.005). Splicing factor mutations were detected in 32 patients (13 SF3B1, 8 U2AF1, and 11 SRSF2), and the mutations were mutually exclusive. Significant differences were observed in the mean corpuscular volume, platelet count, bone marrow myeloid:erythroid ratio, and megakaryocyte count in patients with different mutations. SRSF2 mutations were associated with a high cumulative incidence of red blood cell transfusion dependence, while SF3B1 mutations were associated with a low cumulative incidence of platelet concentrate transfusion dependence. Presence of SF3B1 mutation was a significant univariate predictor of overall survival, but become nonsignificant in the multivariate model. Although many factors also could affect survival, these results suggest that splicing factor mutations contribute to distinct MDS phenotypes, including patient characteristics and clinical courses. |
| Databáze: | OpenAIRE |
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