染色体核型分析联合间期荧光原位杂交检测对多发性骨髓瘤临床诊断价值的研究

Study on Clinical Diagnosis Value by Combination of Fluorescence in Situ Hybridization and Conventional Cytogenetic Analysis in Multiple Myeloma

摘要: 目的：探讨细胞遗传学染色体核型分析技术联合间期荧光原位杂交(FISH)对多发性骨髓瘤(MM)患者异常核型检测的灵敏度及其在临床诊断中的应用价值。方法：回顾性的分析了82例确诊MM患者同时采用常规细胞遗传学染色体核型分析方法及FISH技术(使用经浆细胞富集后的细胞)检测患者核型异常情况，比较两者的阳性率。结果：在进行常规染色体核型分析的82例患者中有7例(8.64%)发现异常核型；其中4例为复杂核型。74例为正常核型，1例(1.22%)未见分裂相。在同时进行FISH检测的这82例患者标本中47例(57.31%)存在异常核型。联合进行常规染色体核型分析和FISH检测的82例患者异常核型检出49例(59.76%)。结论：常规染色体核型分析联合间期荧光杂交技术检测可显著提高MM患者异常检出率，为临床治疗和预后评估提供线索。

Abstract: Objective: The aim of this study was to explore the sensitivities of fluorescence in situ hybridization (FISH) and conventional chromosome analysis to detect cytogenetic abnormalities in patients with multiple myeloma, and then to discuss the clinical application and significance. Method: Review karyotypes of 82 multiple myeloma patients detected by fluorescence in situ hybridization (FISH) (after enrichment of plasma cells) and conventional chromosome analysis simultaneously and compare the positive detection rates of these two techniques. Results: Among the 82 patients detected, abnormalities were found in 7 (8.64%) cases, and 4 of which were complex karyotypes. 74 were normal and one failed (1.22%). Abnormalities were found in 47 (57.31%) of 82 patients detected by FISH study. Abnormalities were detected in 49 (59.76%) of 82 patients by combination of these two techniques. Conclusion: It suggested that combination of fluorescence in situ hy-bridization (FISH) and conventional chromosome analysis can increase positive detection rate in MM patients and provide clues for clinical treatment and prognosis assessment.