中文摘要：

目的：初步探讨微阵列比较基因组杂交技术在甲醛固定石蜡包埋组织中的应用及意义。方法：采用全基因组Array-CGH检测2例甲醛固定石蜡包埋横纹肌肉瘤组织的DNA拷贝数变化。结果：2例FFPE横纹肌肉瘤组织在全基因层面上均检测出不同程度的获得和缺失,同时检测出部分区段和基因的扩增和丢失：其中的1例ERMS扩增区段为2p22.3,2p24.3,8p22,8p12,8q12,8q24.13,8q24.22,12q13.3-14.1,22 q11.1-q11.23,丢失区段为15q25.2,16p12.3,16p13.2,17p11.2,4q13.2,6p21.31,6q25.3,9p23,21q22.13,22q11.23;另一例ARMS的扩增区段为1p21.1,1p36.3,2p11.1,2p24.3,2p22.3,5p14.3;丢失区段为2p12,3q26.1,3q29,9p23,与以往文献报道较为一致。结论：Array-CGH及其步骤的优化适于FFPE组织材料DNA拷贝数的检测,获得了与文献报道较为一致的检测结果。

英文摘要：

Objective：To investigate and discuss array-based comparative genomic hybridization（array-CGH） Application in formalin-fixed,paraffin-embedded（FFPE） tumor material.Methods：Genomic DNA extracted FFPE tumour tissues was labelled with fluorochromes and then hybridised on to an array consisting of 720,000 probes representing regions throughout the entire human genome.Results：DNA copy number aberrations（CNAs） were found in whole genomic DNA of the 2 FFPE rhabdomyosarcoma（RMS）.In the 1 embryonal RMS（ERMS）,We found amplifications at 2p22.3,2p24.3,8p22,8p12,8q12,8q24.13,8q24.22,12q13.3-14.1,22 q11.1-q11.23 and losses at 15q25.2,16p12.3,16p13.2,17p11.2,4q13.2,6p21.31,6q25.3,9p23,21q22.13,22q11.23.And we found amplifications at 1p21.1,1p36.3,2p11.1,2p24.3,2p22.3,5p14.3 and losses at 2p12,3q26.1,3q29,9p23 in the alveolar RMS（ARMS）.Our study of array-CGH on FFPE RMS DNA showed very similar results compared with published data. Conclusion：Array –CGH and its optimized protocol were compatible for FFPE material.