【摘要】 目的:提高对难治性贫血伴环形铁粒幼细胞（RARS）患者检测SF₃B₁基因突变的认识。方法:回顾性分析2例RARS并SF₃B₁（K700E）基因突变患者的临床资料并进行相关文献复习。结果:2例患者均有头昏、乏力症状,均为难治性贫血,白细胞计数和分类正常,血小板计数增高,骨髓象粒系减低,红系增生占56%⁷2.4%,其中畸形红细胞占12%¹4%,粒系、巨核细胞也见畸变。细胞外铁^,铁粒幼细胞74%⁹5%,其中环形铁粒幼细胞占24%²8%。骨髓活检增生明显^极度活跃（占80%）,染色体核型正常,JAK₂基因阴性,SF₃B₁（K700E）基因阳性,2例均诊断RARS（SF3B1K700E基因突变）。文献报告RARS伴血小板增多又伴JAK₂基因突变,患者用小剂量雷那度胺治疗有效。结论:对RARS患者进行SF₃B₁、JAK₂等基因检测,可给患者提供适当的治疗方法,做好针对个体化精准治疗,改善贫血,提高疗效。更多还原

【Abstract】 Objective: To investigate the clinical significance of refractory anemia with ring sideroblasts( RARS) with SF3B1 gene mutation. Method: The clinical information of two cases of RARS with SF3B1mutation( K700E) and the related literatures were reviewed. Results: Both two cases presented refractory anemia with dizziness and fatigue as chief complaint.The white blood cell count was within normal range with thrombocytosis at diagnosis. Bone marrow cytology indicated obvious erythroid and macrophage lineage dysplasis. The extracellular iron staining was strongly positive with 74%- 95% sideroblasts. The ring sideroblasts accounted for 24%- 28%. The bone marrow biopsy indicated marked to extreme hyperplasia.Both two patients had normal karyotype and negative JAK2 gene mutation. The sanger sequencing indicated SF3B1( K700E)gene mutation in both patients. Conclusion: The gene mutation analysis( SF3B1 and JAK2) in RARS patients can provide the individualized drug therapy and improve the effectiveness of this type of disease.更多还原