CAJ | 학술논문

目的提高对伴有染色体插入易位ins(13;8)(q 12;p 11 p23)形成ZNF 198-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ins1(13;8) (q12;p1 1p23)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;p1 1p23)形成ZNF 198-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.
목적 제고대반유염색체삽입역위ins(13;8)(q 12;p 11 p23)형성ZNF 198-FGFR1융합기인적한견질병8p11골수증식종합정(EMS)적인식,병대해융합기인진행전장극륭급결구분석.방법 보도1례반ins1(13;8) (q12;p1 1p23)형성ZNF198-FGFR1융합기인적EMS환자적림상표현、실험실특정급진치경과,병통과중첩PCR급TA극륭대해융합기인진행전장확증급극륭측서.결과 상규염색체핵형분석발현1례ins(13;8) (q12;p11p23)환자,기림상특정주요위외주혈백세포계수명현승고、수계고도증생、림파결종대、쾌속향백혈병전화추세등;형광원위잡교현시FGFR1기인중배,RT-PCR급직접측서증실ZNF198-FGFR1융합기인양성,대해융합기인전장극륭급극륭측서증실기보류료각자적주요공능결구역.결론 염색체삽입역위ins(13;8) (q12;p1 1p23)형성ZNF 198-FGFR1융합기인,해융합기인보류료주요공능결구역,반유해기인양성환자구유독특적실험실급림상특정.
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 8p1 1 EMS case and provided more details on the clinical and molecular features of ins(13;8) (q12;p1 1p23)/ 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;p1 1p23)/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 ZNF 198 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 FGFR 1 tyrosine kinase.