Objective: To investigate the clinic-pathological features, diagnosis and treatment of 8p11 myeloproliferative syndrome (EMS) . Methods: Five patients diagnosed as EMS from Jan 2014 to May 2018 at Blood Disease Hospital, Chinese Academy of Medical Sciences were enrolled. The clinical manifestations, laboratory characteristics, treatment and outcome of these patients were summarized. Results: The peripheral blood leukocyte count of 5 patients with EMS increased significantly, accompanied with an elevated absolute eosinophils value (the average as 18.89×10(9)/L) . The hypercellularity of myeloid cells was common in bone marrow, always with the elevated proportion of eosinophils (the average as 17.24%) , but less than 5% of blast cells. The chromosome karyotype of the 5 cases differed from each other, but presenting with the same rearrangement of FGFR1 gene by fluorescence in situ hybridization technology. The average interval between onset and diagnosis was 4.8 months with a median survival of only 14 months. Conclusion: EMS was a rare hematologic malignancy with poor prognosis and short survival. It was commonly to be misdiagnosed. Analysis of cytogenetics and molecular biology were helpful for early diagnosis.
目的： 分析罕见疾病伴嗜酸性粒细胞增多和FGFR1重排的髓系/淋系肿瘤（即8p11骨髓增殖综合征，EMS）的临床特征、诊断及治疗。 方法： 总结中国医学科学院血液病医院2014年1月至2018年5月收治的5例确诊EMS患者的临床表现、实验室特征、诊治经过及转归。 结果： 5例EMS患者外周血白细胞计数均明显升高，伴有嗜酸性粒细胞绝对值增高（均值18.89×10(9)/L）；骨髓髓系极度增生，原始细胞均<5%，嗜酸性粒细胞比例增高（均值17.24%）。5例患者染色体核型各不相同，但FISH检查均存在FGFR1基因重排。发病至确诊平均时间为4.8个月，中位生存期仅14个月。 结论： EMS是一种罕见病，恶性程度高，对常规化疗反应差，生存期短，且易发生误诊漏诊，细胞遗传学及分子生物学检查有助于早期诊断。.
Keywords: Fibroblast growth factor receptor 1; Myeloid/lymphoid neoplasms; Myeloproliferative syndrome.