30例伴BCR-FGFR1融合基因阳性8p11骨髓增殖综合征患者诊疗分析  

Diagnostic and therapeutic analysis in 30 patients with 8p11 myeloproliferative syndrome complicating BCR-FGFR1 fusion gene positive

作　　者：赵一帆 苏永忠[1] 白雪 吴禹宏 冯志金 林绍泽[1] 邢学仰[1] ZHAO Yifan;SU Yongzhong;BAI Xue;WU Yuhong;FENG Zhijin;LIN Shaoze;XING Xueyang(Department of Hematology,First Affiliated Hospital,Medical College of Shantou University,Shantou,Guangdong 515041,China)

机构地区：[1]汕头大学医学院第一附属医院血液科,广东汕头515041

出　　处：《重庆医学》2021年第9期1498-1503,共6页Chongqing medicine

基　　金：广东省汕头市科技计划项目(汕府科〔2020〕5号-95)。

摘　　要：目的总结分析伴B细胞受体-成纤维细胞生长因子受体1(BCR-FGFR1)融合基因阳性8p11骨髓增殖综合征(EMS)患者的临床表现、治疗效果、预后等方面的特征。方法收集并分析包括本中心新确诊1例在内的30例伴BCR-FGFR1阳性EMS患者初诊时外周血常规、骨髓细胞学、细胞遗传学、分子生物学等检查结果及治疗过程、预后等资料。结果30例伴BCR-FGFR1阳性EMS患者中位年龄55.50岁,多数患者外周血白细胞计数明显升高(中位值52.30×109/L),骨髓象呈增生活跃状态,中位原始细胞占比为17%。染色体核型分析和荧光原位杂交可检测到特异性的平衡易位和FGFR1基因重排,43.33%的患者初诊时伴有复杂核型异常。复杂核型组患者相较非复杂核型组病死率更高,中位总生存时间更短。14例接受造血干细胞移植(HSCT)的患者中有11例治疗后处于无病生存状态。接受移植组患者中位总生存时间更长。结论EMS患者对常规化疗不敏感,异基因HSCT是目前唯一有效的治疗手段。Objective To summarize and analyze the characteristics in the aspects of clinical manifestations,therapeutic effect and prognosis in the patients with 8p11 myeloproliferative syndrome(EMS)complicating BCR-FGFR1 fusion gene positive.Methods The clinical data of laboratory examinations such as peripheral blood routine,bone marrow cytology,cytogenetics and molecular biology,treatment process and prognosis in 30 patients with EMS complicating BCR-FGFR1 fusion gene positive including 1 case of newly diagnosed EMS in this center were collected and analyzed.Results The median age of 30 EMS patients with BCR-FGFR1 positive was 55.50 years old.In the majority of the patients,the white blood cells count of peripheral blood was significantly increased(median value 52.30×109/L).The myelogram showed a proliferative active state with the median primitive cells proportion of 17%.The specific balanced translocation and FGFR1 gene rearrangement could be detected by chromosome karyotype analysis and fluorescence in situ hybridization.43.33%of the patients were accompanied with complex karyotype abnormalities in first visiting diagnosis.The patients in the complex karyotype group had higher mortality rate and shorter median overall survival time compared with the patients in the non-complex karyotype group.Among 14 cases receiving the hematopoietic stem cell transplantation(HSCT),11 cases were in a disease-free state after treatment.The patients in the receiving transplantation group had longer median overall survival time.Conclusion EMS patients are insensitive to the conventional chemotherapy.Allogeneic HSCT is the only effective treatment means at present.

关 键 词：8p11骨髓增殖综合征 T细胞淋巴瘤 慢性髓系白血病 B细胞受体-成纤维细胞生长因子受体1 造血干细胞移植 

分 类 号：R551.3[医药卫生—血液循环系统疾病]