浸润性乳腺癌及乳腺增生细胞3p、9p上5个微卫星位点的杂合性缺失观察

目的探讨乳腺浸润性导管癌及乳腺增生细胞中染色体3p、9p上5个微卫星位点（MS）杂合性缺失（LOH）模式。方法显微分离技术分离病变细胞，PCR．微卫星技术分析18例乳腺单纯性导管增生（UDH组）、15例不典型导管增生（ADH组）和35例乳腺浸润性导管癌（IDC组）细胞的3p、9p上D3S1447、D3S1612、D3S1597、D9S171及D9S1748位点的LOH模式。结果UDH组中仅1例D3S1447位点发生LOH（10％），ADH组5个位点均发生一定频率的LOH（10％-22％），IDC组5个位点均发生高频LOH（19％～48％）。至少1个位点发生LOH者，UDH组为6％、ADH组为33％、IDC组为71％，三组相比，P〈0．05；2个或以上位点发生LOH者，UDH组为0、ADH组为13％、IDC组为40％，UDH组、ADH组与IDC组相比，P均〈0．05。IDC组中D3S1612发生高频LOH者在有淋巴结转移组为63％，无淋巴结转移组为19％，两组相比，P〈0．05。结论UDH组的D3S1447位点发生的LOH和ADH组的5个位点发生的LOH有作为癌变风险预测分子标记的可能性，分析多个MS的LOH模式对于乳腺癌的早期预测和早期诊断有一定参考价值，D3S1612位点的LOH可能是IDC发生淋巴结转移的重要分子机制。

Loss of heterozygosity of microdissected invasive on 3p,9p in ductal carcinoma of breast and hyperplastic breast lesions

Objective To explore the frequency and pattern of loss of heterozygosity（ LOH ） of 5 microsatellites（MSs） in chromosomal arms of 3p,9p in usual ductal hyperplastic lesions（UDH） ,atypical ductal hyperplastic lesions（ADH） and invasive ductal carcinomas （IDC）. Methods The UDH, ADH and IDC cells were microdissected from paraffin sections. 5 MSs were used,combined with PCR and LOH technique,to detect the frequencies of LOH of every selected MS on chromosome3p,9p in UDH,ADH and IDC . Results There was only one LOH at D3S1447 in UDH. There was certain frequencies in ADH（ 10% - 22% ） and there was high-frequencies in IDC（ 19% -48% ）. There was a significant difference of the total changes at least one locus in three groups（ P 〈 0.05 ）. There was a significant difference of the total changes at least two locus,between UDH and IDC,ADH and IDC（P 〈0.05）. The lymph node metastasis of tumors with LOH at D3S1612 were sufficient higher than those without lymph node metastasis of tumors（ P 〈0.05 ）. Conclusions LOH at D3S1447 in UDH and ADH group of five sites LOH are as a cancer risk prediction of the possibility of molecular markers. There is a high frequency of LOH at D3S1612（3p22-24） in IDC and it may contribute to the lymph node metastasis.