进展期乳腺癌原发灶与转移灶中HER-2/neu基因状态稳定性的对比分析

Comparative analysis of stability of HER-2 /neu gene status between primary advanced breast cancer and metastasis

目的探讨进展期乳腺癌原发灶与转移灶中HER-2/neu基因状态的稳定性,指导临床检测标本的选择。方法筛选52例同期腋窝淋巴结转移数≥5个的女性浸润性乳腺癌病例,取存档蜡块原发灶5个位点及全部淋巴结转移位点制备组织芯片。采用双探针荧光原位杂交技术检测HER-2/neu基因状态,分析各位点间HER-2/neu基因状态的异同。结果 HER-2/neu基因扩增病例占所检病例的44.2%。HER-2/neu基因状态在原发灶与转移灶间高度一致(κ=0.840,P<0.001)。92.3%(48/52)病例的乳腺癌位点HER-2/neu基因状态均一致,呈高度均质稳定状态。7.7%(4/52)病例存在位点间HER-2/neu基因状态不同,显示异质性。结论大部分进展期乳腺癌原发灶或同期淋巴结转移灶均可作为HER-2/neu基因检测材料,部分乳腺癌需在原发灶和转移灶多点取样才能全面反映HER-2/neu基因状态。

Purpose This article is to investigate the stability of HER-2/neu gene status between primary advanced breast cancer and metastasis, and to guide sample selection of clinical detection. Methods 52 patients who diagnosed as invasive breast cancer with greater than or equal to five synchronous axillary lymph nodes metastasis had been collected. Five cores from primary tumor paraffin blocks and all metastasis cores were extracted to make tissue microarrays. HER-2/neu gene status was detected by fluorescence in situ hybridization （FISH） and the difference of HER-2/neu gene status among the cores was analyzed. Results 23 cases （44. 2% ） was amplified. The overall consistency of HER-2/neu gene status between primary tumor and metastasis is almost perfect （ κ = 0. 840, P 〈 0. 001 ）. HER-2/neu gene status was consistent in all cores of 48 cases （92. 3% ） which indicated that HER-2/neu gene was highly homogeneous, except 4 cases （7.7%, 4/52） showed heterogeneous. Conclusions Although some cases need to be sampled in multi- ple sites from primary breast cancer and metastasis to describe HER-2/neu gene status comprehensively, most primary tumor or syn- chronous axillary lymph nodes metastasis of advanced breast cancer can be used as sample for HER-2/neu gene status detection.