多色荧光原位杂交技术检测结直肠癌早期染色体改变的研究

Research of multicolor fluorescence in situ hybridization in the early diagnosis of colorectal cancer

目的分析我国结直肠癌（CRC）及结直肠腺瘤染色体畸变情况，探讨通过多色荧光原位杂交（M—FISH）技术检测染色体变化，用于CRC早期诊断及评估腺瘤恶性变倾向的可行性和有效性。方法选择7、8、12和20号染色体探针应用M—FISH技术检测161例患者的183份结直肠病变组织，包括65份腺瘤组织、19份癌旁腺瘤组织和99份腺癌组织。分析结直肠腺癌和腺瘤与临床病理参数之间的关系。结果7、8、12和20号染色体在腺癌组织中有较高的增益畸变率，分别为82．1％（55／67）、70．1％（47／67）、60．9％（56／92）和72．8％（67／92）；在癌旁腺瘤组织亦有较高的增益畸变率，分别为76．5％（13／17）、41．2％（7／17）、50％（9／18）和72．2％（13／18）；7号和20号染色体增益畸变同时出现在同一个患者的腺癌与腺瘤标本中的频率较高。结论7、8、12和20号染色体在腺癌及腺瘤组织中均存在较高的染色体数目畸变率；其中7号与20号染色体增益畸变有可能成为CRC早期预警标志。M—FISH技术检测可能有助于CRC的早期诊断。

Objective To reveal the aberrations of some chromosomes in colorectal cancer （CRC） and its premalignant lesions-colorectal adenoma by using multicolor fluorescence in situ hybridization （M-FISH）, so as to explore the feasibility and effectiveness of M-FISH in the early diagnosis of CRC and the evaluation of tendency of malignant transformation of the colorectal adenoma. Methods M-FISH was performed in 183 colorectal lesion biopsy specimens of 161 cases, which included 65 adenoma tissues, 19 adenoma tissues adjacent adenocarcinoma and 99 adenocarcinoma biopsy specimens. The relationship between chromosomal aberrations and clinicopathologic parameters was also analyzed. Results The copy number gains of chromosomes 7, 8, 12 and 20 were 82.1%（55/67）, 70.1%（47/67）, 60.9 %（56/92） and 72.8 %（67/92） in the adenocarcinoma tissues, 76.5 %（13/17）, 41.2 %（7/17）, 50 %（9/18） and 72.2 %（13/18） in the adenoma tissues adjacent adenocarcinomas. Chromosomal 7 and 20 presented high frequently consistent alterations in adenoma and adenocarcinoma of the same patients. Conclusion High aneuploidy rate of chromosomes 7, 8, 12 and 20 are detected in both colorectal adenocarcinomas and adenomas. Aneuploidy rate of Chromosome 7 and 20 may be early warning signs of colorectal cancer. M-FISH may be helpful in the early diagnosis of colorectal adenocarcinomas.