van der Riet P, Nawroz H, Hruban R H, Corio R, Tokino K, Koch W, Sidransky D
Department of Otolaryngology, Head and Neck Surgery, Johns Hopkins University, Baltimore, Maryland 21205-2196.
Cancer Res. 1994 Mar 1;54(5):1156-8.
In order to define more clearly the role of chromosome 9 loss in head and neck squamous cell carcinoma (HNSCC), 29 invasive carcinomas and 17 preinvasive lesions were analyzed for loss of heterozygosity (LOH) on chromosome 9. We found LOH in 21 of 29 (72%) HNSCC tumors using highly polymorphic microsatellite markers. In 17 of 21, LOH was found at all informative sites on the p arm with no LOH of the q arm. Further mapping in tumors, with partial LOH of the 9p arm, localized a common region of loss between markers D9S165 and D9S156. Deletion of this region on chromosome 9 has been found in several other tumor types implying the presence of a tumor suppressor gene at this locus. The inactivation of a tumor suppressor gene on chromosome 9p may represent the most commonly described genetic alteration in HNSCC. A similar incidence of allelic loss on chromosome 9p was identified in 12 of 17 (71%) preinvasive lesions. The identical frequency of loss in preinvasive and invasive lesions suggests that loss of 9p is an early event in HNSCC progression.
为了更清楚地界定9号染色体缺失在头颈部鳞状细胞癌（HNSCC）中的作用，我们对29例浸润性癌和17例癌前病变进行了9号染色体杂合性缺失（LOH）分析。利用高度多态性微卫星标记，我们在29例HNSCC肿瘤中的21例（72%）发现了LOH。在21例中的17例中，p臂上所有信息位点均发现LOH，而q臂未发现LOH。在9p臂存在部分LOH的肿瘤中进一步定位，发现标记D9S165和D9S156之间存在一个常见的缺失区域。在其他几种肿瘤类型中也发现了9号染色体上该区域的缺失，这意味着该位点存在一个肿瘤抑制基因。9p染色体上肿瘤抑制基因的失活可能是HNSCC中最常描述的基因改变。在17例癌前病变中的12例（71%）中也发现了9p染色体上等位基因缺失的相似发生率。癌前病变和浸润性病变中相同的缺失频率表明，9p缺失是HNSCC进展中的一个早期事件。
