Chao Hongying, Chen Suning, Zhou Min, Lu Xuzhang, Zhang Xiuwen, Pan Jinlan, Wu Chunxiao, Zhang Ri
Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Department of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):679-82. doi: 10.3760/cma.j.issn.1003-9406.2015.05.015.
OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion. METHODS Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. RESULTS Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.
目的 探讨1例伴有8p11骨髓增殖综合征（EMS）及CEP110 - FGFR1融合的患者的临床及实验室特征。方法 采用骨髓细胞学、荧光原位杂交、融合基因检测对该患者进行分析。结果 临床上，该患者具有许多与慢性粒单核细胞白血病相似的特征，包括白细胞增多、明显嗜酸性粒细胞增多、单核细胞增多、髓系增生及造血细胞增生。FGFR1基因重排的荧光原位杂交分析呈阳性。对mRNA的进一步研究也证实了CEP110基因第38外显子与FGFR1基因第9外显子之间存在读码框内融合。结论 伴有CEP110 - FGFR1融合的EMS是一种非常罕见且独特的骨髓增殖性肿瘤。荧光原位杂交及分子研究可能有助于其诊断。
