【摘要】 目的： 研究染色体杂合缺失与乳腺癌生物学行为和预后的关系。方法：应用ＰＣＲ－ 限制性长度片段多态性分析（ＰＣＲ－ ＲＦＬＰ） 的方法，对５６ 例原发性乳腺癌患者３ 号染色体短臂３Ｐ１４ －２４ 区域杂合缺失（ＬＯＨ） 进行分析。结果：在染色体３Ｐ１４ 、３Ｐ２１ 、３Ｐ２４ 三个位点上ＬＯＨ 发生的频率分别为４ ．２ ％ （１／２４） 、０（０／９） 和３９ ．５ ％ （１５／３８） ，３Ｐ２４ 位点ＬＯＨ 发生的频率最高，说明该位点有乳腺癌相关抑制基因存在的可能性。分析３Ｐ２４ 位点的ＬＯＨ 与临床分期、淋巴结转移和ＥＲ、ＰＲ 的相关关系，发现在８ 例Ⅰ期乳腺癌信息个体中该位点ＬＯＨ 全部为阴性，在Ⅱ、Ⅲ期病例ＬＯＨ 阳性率分别为５２ ．２ ％ （１２／２３） 和４２ ．８ ％ （３／７） ；在腋淋巴结转移和无转移组病例中分别为６６ ．７ ％ （１２／１８） 、１５ ％ （３／２０） ，两组间有显著性差异（ Ｐ＜ ０ ．０１） ；ＥＲ 或ＰＲ 阴性的乳腺癌也较ＥＲ、ＰＲ 阳性者有较高的ＬＯＨ 发生率。说明在Ⅱ、Ⅲ期乳腺癌以及淋巴结阳性、ＥＲ 或ＰＲ 阴性的肿瘤中该位点的缺失更频繁，提示３Ｐ２４ 位点基因缺失与病程进展快、侵袭性程度高和预后差的肿瘤有关。结论：通?更多还原

【Abstract】 Objective: To study the association of loss of heterozygosity at chromosome 3P with biologic behavior and prognostic significance in human breast cancer. Methods:The loss of heterozygosity (LOH) at chromosome 3P was determined in 56 patients with breast cancer by means of polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP). Results: In 4.2%(1/24), 0%(0/9), 39.5%(15/38) of the tested cases, LOH was determined at 3P14, 3P21,3P24 respectively. Deletion mapping in these tumors indicated that the common region of chromosomal loss resided within band 3P24. These results suggest that one or more putative tumor suppressor genes at this site contributed to the pathogenesis of breast cancer. All the LOH at 3P24 happened in stage Ⅱ(52.2%) or stage Ⅲ(42.8%). In stage Ⅰpatient, no LOH at 3P24 was revealed. The frequency of LOH at the 3P24 locus was higher in breast cancer patients with axillary lymph node metastasis (66.7%) than those in node-negative tumors (15%) (P< 0.01). Most of the LOH at this site were found in node-positive stage Ⅱor stage Ⅲand ER or PR-negative patients. Conclusion: These findings suggest that the measurement of LOH at 3P24 may be an useful predicting marker for lymph node metastasis potential and prognosis of patients with breast cancer.更多还原