摘要目的 探讨乳腺癌原发灶和淋巴结转移灶HER2基因状态及其差异.方法 收集2012年5月至2015年6月间浸润性乳腺癌石蜡标本共150例,其中包括原发灶HER2基因扩增、无扩增及不确定3种基因状态各50例,且均有同侧腋窝淋巴结标本.以荧光原位杂交法(FISH)检测腋窝淋巴结转移灶的HER2基因状态,分析其原发灶与淋巴结转移灶之间HER2基因状态不一致性的发生率.结果 本组乳腺癌原发灶与其同侧腋窝淋巴结转移灶的HER2基因状态不一致率为20.7％(31/150).原发灶HER2阳性的50例标本中,其淋巴结HER2阳性44例、不确定3例、阴性3例;原发灶HER2阴性的50例标本中,其淋巴结HER2阴性47例、不确定3例;原发灶HER2基因状态不确定的50例标本中,其淋巴结HER2阳性4例、阴性18例、不确定28例.HER2状态不确定组患者转移灶的HER2基因状态与原发灶HER2基因状态的差异,明显高于前两组,差异具有统计学意义(P＜0.05).结论 乳腺癌原发灶与淋巴结转移灶之间的HER2基因状态存在一定的差异,对于淋巴结阳性的乳腺癌来说,必要时可再次检测同侧腋窝淋巴结,或原发灶与转移灶同时检测.对于原发灶HER2基因状态不确定的浸润性乳腺癌来说,检测腋窝淋巴结HER2基因状态,对于临床上抗HER2治疗方案的选择更有参考意义.

abstractsObjective To investigate the discordant rate of HER2 gene status between primary breast cancer and synchronous axillary lymph node metastasis.Methods One hundred and fifty cases of primary breast cancer with corresponding synchronous lymph node metastases were collected,including 50 cases of HER2 FISH positive,50 cases of HER2 FISH negative and 50 cases of HER2 FISH equivocal primary tumors,at Peking Union Medical College Hospital between May 2012 and June 2015.The HER2 gene status in lymph node metastatic tumors was analyzed by FISH,and the discordance of HER2 gene status was identified between primary and metastatic tumors.Results The incidence of discordant HER2 gene status between primary breast cancer and synchronous lymph node metastasis was 20.67％ (31/150).Fortyfour FISH positive,3 FISH equivocal and 3 FISH negative cases were found in the first group of 50 patients with HER2 positive results in primary tumor.Forty seven FISH negative,3 FISH equivocal cases were discovered in the second group of 50 patients with HER2 negative results in primary tumor.Four FISH positive,18 FISH negative and 28 equivocal cases were observed in the third group of 50 patients with HER2 equivocal results in primary tumor.The discordance of HER2 gene status between primary tumor and lymph node metastasis in the third group of patients was significantly higher than the other two groups (P ＜ 0.05).Conclusions Significant discordance of HER2 gene status between the primary and lymph node metastatic tumors exists.Patients with lymph node metastasis,simultaneous testing of HER2 status may be performed in both primary breast tumor and its lymph node metastasis.HER2 status of nodal metastatic lesion may be more relevant for guiding anti-HER2 target therapy.