伴血小板增多的环形铁粒幼细胞性难治性贫血的临床和生物学特征及药物治疗

Clinical and biological characteristics and drug therapy in refractory anemia with ring sideroblasts associated with thrombocytosis

目的:探讨伴血小板增多的环形铁粒幼细胞性难治性贫血(RARS-T)的临床和生物学特征与药物治疗的关系。方法:采用瑞氏染色、铁染色检查骨髓细胞形态学变化;流式细胞术分析细胞免疫表型;G显带染色体核型分析;PCR技术测定常见髓细胞肿瘤融合基因及JAK2/V617F基因突变;直线回归分析治疗后主要血液学指标的相关关系。结果:RARS-T同时具有难治性贫血和血小板增多表现;骨髓细胞学显示环形铁粒幼细胞及巨核细胞增多、红细胞病态造血;无特异性细胞遗传学、分子生物学改变;药物治疗后血象改善,血红蛋白与红细胞计数及红细胞平均体积相关,血小板计数与血红蛋白、白细胞计数相关。结论:促红细胞生成素、十一酸睾酮、沙利度胺、维生素B6可改善RARS-T红系血液学指标。

Objective： To explore the clinical and biological characteristics and drug therapy in refractory anemia with ring sideroblasts associated with thrombocytosis（ RARS- T）. Methods： One RARS- T patient was studied,morphologic changes of peripheral blood and bone marrow cells were observed. Immunophenotype,31 fusion genes of myeloid neoplasms and JAK2 / V617 F mutation and chromosome karyotye were analyzed by flow cytometry,polymerase chain reaction and routine G- banding methods,respectively. The main parameters in peripheral blood cell analysis were individually compared with hemoglobin and platelet count by linear regression analysis. Results： RARS- T also had refractory anemia and thrombocytosis,no specific cytogenetic and molecular biological changes. Marrow cytology showed ring sideroblasts and megakaryocytes hyperplasia,erythrocytes dysplasia. The elevated hemoglobin had significantly positive correlation with the red blood cell count,mean corpuscular volume. The platelet count associated with hemoglobin and leukocyte count. Conclusion： Erythropoietin,testosterone undecanoate,thalidomide and vitamin B6 can enhance erythroid hematopoiesis of RARS- T.