Objective: To improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.
Methods: We reported here a 8p11 EMS case and provided more details on the clinical and molecular features of ins(13;8)(q12;p11p23)/ZNF198-FGFR1，full length ZNF198-FGFR1 was cloned by overlap extension PCR method，and the literatures on this topic were reviewed.
Results: Clinically, the case with ins(13;8)(q12;p11p23)/ZNF198-FGFR1 had distinct hematological and clinical characteristics: hyperleukocytosis, myeloid hyperplasia，widespread adenopathy and lymphoma; Fluorescence in situ hybridization (FISH) disclosed the positive FGFR1 gene rearrangement; Further molecular studies confirmed a mRNA in-frame fusion between exon 17 of the ZNF198 gene and exon 9 of FGFR1 gene ，the full length ZNF198-FGFR1 was composed of a NH2 terminus of ZNF198 including the ZNF and proline-rich domains, whereas the COOH terminus of FGFR1 included 2 tyrosine kinase domains.
Conclusion: EMS with ins(13;8)(q12;p11p23)/ZNF198 -FGFR1 was a very rare， distinct myeloproliferative neoplasm, the fusion gene and chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.
目的: 提高对伴有染色体插入易位ins(13;8)(q12;p11p23）形成ZNF198-FGFR1融合基因的罕见疾病8p11骨髓增殖综合征(EMS)的认识，并对该融合基因进行全长克隆及结构分析。
方法: 报道1例伴ins(13;8)(q12;p11p23）形成ZNF198-FGFR1融合基因的EMS患者的临床表现、实验室特征及诊治经过，并通过重叠PCR及TA克隆对该融合基因进行全长扩增及克隆测序。
结果: 常规染色体核型分析发现1例ins(13;8)(q12;p11p23）患者，其临床特征主要为外周血白细胞计数明显升高、髓系高度增生、淋巴结肿大、快速向白血病转化趋势等；荧光原位杂交显示FGFR1基因重排，RT-PCR及直接测序证实ZNF198-FGFR1融合基因阳性，对该融合基因全长克隆及克隆测序证实其保留了各自的主要功能结构域。
结论: 染色体插入易位ins(13;8)(q12;p11p23）形成ZNF198-FGFR1融合基因，该融合基因保留了主要功能结构域，伴有该基因阳性患者具有独特的实验室及临床特征。