FGFR1基因异常在血液肿瘤中的临床意义

Clinical Significance of FGFR1 Gene Abnormalities in Blood Tumors

目的:研究血液系统肿瘤中成纤维细胞生长因子受体1(FGFR1)基因异常对疾病诊断、临床特征、病理机制及治疗选择的指导意义及临床应用。方法:收集我院2013年至2018年带有8号染色体短臂(8P)异常且病史资料较为全面的患者共29例,运用染色体R带显带技术对患者骨髓染色体进行核型分析,并运用荧光原位杂交技术(FISH)进行FGFR1基因检测。结果:FISH检测出FGFR1基因异常患者共7例,其中FGFR1基因扩增患者3例、易位改变患者2例、缺失患者2例。FGFR1基因扩增或缺失的5例患者均不伴有嗜酸性粒细胞增高,且染色体为复杂核型,预后较差;2例FGFR1基因易位病例为非复杂染色体易位,其中1例经骨髓移植后6年仍存活,另1例染色体核型分析8号短臂未见重排,但通过FISH检测证实了FGFR1基因的重排且为罕见的插入性易位。结论:FGFR1基因扩增或缺失病例多发生在复杂核型中,不伴有嗜酸性粒细胞升高,预后差。FGFR1基因易位患者伴有嗜酸细胞增多,符合伴FGFR1异常的髓系/淋系肿瘤的临床特征。染色体核型分析和FISH方法相结合可以提高异常克隆的检出。

Objective:To study the potential significance and clinical application of FGFR1 gene abnormality in the diagnosis,clinical features,pathological mechanism and treatment in hematological tumors.Methods:Clinical data of total of 29 patient with chromosome of 8 short arm(8P)abnormality who had more comprehensive medical history from 2013 to 2018 were collected.The karyotype analysis of bone marrow chromosomes in patients was carried out by using chromosome R band banding technique.FGFR1 gene was detected by using fluorescence in situ hybridization(FISH).Results:Seven cases of FGFR1 gene abnormalities were decteted,including 3 cases of FGFR1 gene amplification,2 cases of translocation,and 2 cases of deletion.Five patients with FGFR1 gene amplification or deletion not accompaned with eosinophilia,moreover the chromosome was a complex karyotype with poor prognosis;Two cases of FGFR1 gene translocation were non-complex chromosomal translocation and one of which survived for 6 years after bone marrow transplantation,the other chromosome karyotype showed no rearrangement of 8 short arm.However,FGFR1 gene rearrangement was confirmed by FISH analysis,which was a rare insertional translocation.Conclusion:FGFR1 gene amplification or deletion often occur in cases with complex karyotype,which not accompany eosinophilia,moreover have poor prognosis.The patients with FGFR1 gene translocation accompany eosinophilia which is consistent with the clinical characteristics of myeloid/lymphoid neoplasms with FGFR1 abnormality.Karyotype analysis combined with FISH method can improve the detection of abnormal clones.