17号染色体异倍体与乳腺浸润性导管癌TOP2A基因状态的相关性  

Correlation between the heteroploidy in chromosome 17 and the status of TOP2A gene in invasive breast carcinoma

作　　者：赵丽辉 陈京 陈应智[2] ZHAO Lihui;CHEN Jing;CHEN Yingzhi(Molecular Diagnosis Center of Zhongshan City People ＇s Hospital,Zhongshan,Guangdong 528403,China)

机构地区：[1]中山市人民医院分子诊断中心,广东中山528403 [2]中山市人民医院病理科,广东中山528403

出　　处：《中国热带医学》2018年第7期691-695,共5页China Tropical Medicine

摘　　要：目的分析17号染色体异倍体与TOP2A基因状态及临床病理特征的相关性。方法收集中山市人民医院2015年7月—2017年5月就诊的未行放疗、化疗或分子靶向治疗的乳腺浸润性导管癌病例546例,通过荧光原位杂交(FISH)方法检测TOP2A基因状态,分析TOP2A基因扩增组、缺失组、无扩增和缺失组与17号染色体不同倍体的关系,并对不同倍体的临床病理特征进行比较。结果 546例乳腺浸润性导管癌患者中17号染色体多倍体共104例,占19.05%,单倍体13例,占2.84%,双倍体429例,占78.57%。TOP2A基因扩增71例,占13.00%;缺失18例,占3.30%,总异常率16.30%(89/546);无扩增或缺失457例,占83.70%。TOP2A基因扩增组中,多倍体占42.25%(30/71),双倍体占57.75%(41/71),无单倍体病例;TOP2A基因缺失组中,多倍体占33.33%(6/18),双倍体占66.67%(12/18),无单倍体病例;TOP2A基因无扩增或缺失组的多倍体占14.88%(68/457),明显低于TOP2A基因异常组的比率。17号染色体异倍体与TOP2A基因异常差异有统计学意义(P<0.05);与性别、部位及腋窝淋巴结转移差异均无统计学意义(P>0.05),与年龄、组织分级、肿瘤大小差异有统计学意义(P<0.05)。结论 17号染色体异倍体与TOP2A基因状态相关,可能影响乳腺浸润性导管癌的预后。Objective To analyze the correlations between the heteroploidy of chromosome 17, the status of TOP2A gene and the clinicopathological characteristics. Methods Totally 546 cases of invasive breast carcinoma without radiotherapy, chemotherapy or molecular targeted therapy were collected from Zhongshan People＇s Hospital from July 2015 to May 2017. The relationships between the amplification group, the deletion group, the non-amplification ＆ deletion group of TOP2A gene and different ploidy of 17 chromosome were analyzed, and the elinicopathological features of different ploidy were compared by fluorescence in situ hybridization （FISH） . Results Totally 104 cases were found polyploidy in chromosome 17 among 546 patients, accounting for 19.05%. 13 cases were haploid, accounting for 2.84% and 429 cases were diploid, accounting for 78.57%. The total abnormal rate of TOP2A gene was 16.30% （89/546）, which included 71 cases of amplification, accounting for 13.00%, 18 cases of deletion, accounting for 3.30%. The number of TOP2A gene （without amplification or deletion） was 457, accounting for 83.70%. In the amplification group, polyploid accounted for 42.25% （30/71）, diploid accounted for 57.75% （41/ 71）, and no haploid case was found. In the deletion group, polyploid accounted for 33.33% （6/18）, diploid accounted for 66.67% （12/18）, and no haploid case was found. The percentage of polyploidy in non-amplification ＆ deletion group represented 14.88% （68/457）, which was significantly lower than that of other abnormal groups. Abnormal differences between chromosome 17 and TOP2A genes were statistically significant （P〈0.05）; The chromosome 17 had no correlation with gender, sites and difference of axillary lymph node metastasis （P〉0.05）, while it had correlation with the age, histological grade and difference of tumor size （P 〈0.05）. Conclusions The heteroploidy of chromosome 17 is associated with the abnormality of TOP2A gene, which may affect the prognosis of invasive bre

关 键 词：乳腺浸润性导管癌 TOP2A基因 17号染色体多体 17号染色体单体 荧光原位杂交技术 

分 类 号：R737.9[医药卫生—肿瘤]