头颈部鳞癌微卫生多态标记的分析

目的 探讨中国人头颈部鳞状细胞癌（SCCHN）多染色体上等位基因的杂合性丢失（LOH）和微卫星不稳定（MI）的频率。方法 采用聚合酶链反应结合二核苷酸酸的重复序列多态性方法，选取6对染色体（3p,4q,7q,9p,17p和18q）上18个微卫星位点对30例SCCHN手术配对组织进行分析。结果 30例SCCHN组织中有12例（40％）组织至少有一个微卫生位点发生LOH，多数位点LOH的频率谱普遍比已报道的文献低。有7个位点（D7S480、D7S522、D9S162、D9S168、D9S304、D9S171和D17S520）具有统计学意义（P＜0．05），然而这些位点的LOH与肿瘤病理学类型、肿瘤大小及转移性无显著相关性。此外，MI仅在4例患者中发现，没有1例患者符合MI的判定标准，即需两个或两个以上的微卫星多态位点的异常。结论 主要发生在D7S480、D7S522、D9S162、D9S168、D9S304、D9S171和D17S520位点的LOH可能存在与部分SCCHN有关的潜在的肿瘤抑制基因，而微卫星不稳定性与SCCHN发生的关系不大。

Microsatellite instability and loss of heterozygosity in squamous cell carcinoma of the head and neck]

OBJECTIVE: To identify the frequency of loss of heterozygosity (LOH) and microsatellite instability (MI) in Chinese sample of squamous cell carcinoma of the head and neck (SCCHN). METHODS: 18 microsatellite markers were selected and used in the analysis of 30 paired SCCHN for LOH and MI by polymerase chain reaction. RESULTS: In 30 cases of SCCHN, LOH was identified in 12 cases (40%) with at least 1 marker. The prevalence rate of LOH was 0 to 21%, much lower than those reported for most markers. 7 out of the 18 markers (D7S480, D7S522, D9S162, D9S168, D9S304, D9S171 and D17S520) were identified as significant (P < 0.05). However there was no statistically significant correlation between the LOH at these loci and the clinical parameters such as pathological types, tumor size and lymph-node metastasis. MI occurred in only 4 patients, but no MI could be observed using the common criteria for defining MI in two or more markers. CONCLUSION: The most common LOH at D7S480, D7S522, D9S162, D9S168, D9S304, D9S171 and D17S520 might imply the existence of potential tumor suppressor gene of a subset of SCCHN, while MI might not be a crucial event.