Objective: To investigate several abnormal genes by the fluorescence in situ hybridization (FISH) in multiple myeloma (MM), monoclonal gammopathy of undetermined significance (MGUS) and reactive plasmacytosis (RP), and to increase the diagnosis and differential diagnosis levels for these common plasma diseases.
Methods: The clinical manifestations, image and laboratory tests and the FISH detection were retrospectively analyzed in 61 cases of newly diagnosed MM, 20 cases of MGUS and 20 cases of RP from August, 2012 to February, 2015 in the Xiangya Hospital of Central South University.
Results: Fifty cases among 61 MM patients showed genetic abnormality by FISH technology. The total positive rate was 81.9%. Among them, 19 cases (31.1%) had 1q21 amplification, 18 cases (29.5%) lacked D13S319, 10 cases (16.4%) missed RB1, 10 cases (16.4%) had IGH translocation and 7 cases (11.4%) lacked p53 gene. The positive rate for two or more genes abnormal was 19.8% in 12 cases. However, in 20 cases of MGUS patients, the positive detection rate was 25%, including 4 cases (20%) of 1q21 augmentation and 2 cases (10%) of IGH translocation. There were not two or more abnormal genes in one case. While in RP cases, only 1 case of patients had D13S319 abnormal gene, and the positive rate was only 5%. There was significant difference (P<0.05) among the 3 groups.
Conclusion: The positive detection rate is 81.9% in MM patients by FISH, which is significantly higher than that in patients with MGUS or RP. FISH technology can detect a variety of abnormal genes in MM. It is useful for the differential diagnosis and prognosis for MM, MGUS and RP.
目的：探讨荧光原位杂交技术(fluorescence in situ hybridization，FISH)检测多发性骨髓瘤(multiple myeloma，MM)、意义未明单克隆免疫球蛋白增多症(monoclonal gammopathy of undetermined significance，MGUS)及反应性浆细胞增多症(reactive plasmacytosis，RP)的几种常见的异常基因，提高对几种常见浆细胞疾病的诊断及鉴别诊断水平。 方法：回顾性分析2012年8月至2015年8月在中南大学湘雅医院初诊的61例MM、20例MGUS及20例RP患者的临床表现、影像学、实验室检查及FISH检测结果。结果： FISH检测61例MM患者中50例患者出现基因异常，FISH阳性检出率为81.9%，其中1q21扩增19例(31.1%)、D13S319缺失18例(29.5%)、RB1缺失10例(16.4%)、IGH易位10例(16.4%)、p53缺失7例(11.4%)，出现两种或多种基因异常的阳性率为12例(19.8%)；20例MGUS中FISH阳性检出率为30%，其中1q21扩增4例(20%)、IGH易位2例(10%)，未发现两种或多种基因异常；而RP患者仅1例出现D13S319缺失，阳性率仅为5%。三组两两比较差异具有统计学意义(P<0.05)。结论：MM患者中FISH的阳性检出率为81.9%，明显高于MGUS及RP的患者，应用FISH可检测MM中的多种异常基因，对MM，MGUS及RP的鉴别诊断、预后判断有重要的临床参考 价值。.