Loss of heterozygosity at 5q21-22 (adenomatous polyposis coli gene region) in oral squamous cell carcinoma is common and correlated with advanced disease.
Loss of heterozygosity at 5q21-22 (adenomatous polyposis coli gene region) in oral squamous cell carcinoma is common and correlated with advanced disease.
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口腔鳞状细胞癌中 5q21-22（腺瘤性息肉病大肠杆菌基因区）杂合性缺失很常见，并且与晚期疾病相关。
DOI：
10.1111/j.1600-0714.1998.tb01960.x
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
Beckmann,AM
中科院分区：
文献类型：
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作者：
Mao,EJ;Schwartz,SM;Daling,JR;Beckmann,AM
我们使用基于PCR的检测方法测定了49例口腔鳞癌患者染色体5q21 - 22（腺瘤性息肉病基因区）杂合性缺失（洛）的频率。在43例信息性（杂合子）肿瘤中，41.9%[95%置信区间（CI）= 27.0，57.9]在5q21 - 22处包含洛合性丢失。5q21 - 22的洛缺失与诊断时的分期密切相关：分别有100%（3/3）、50%（13/26）和14%（2/14）的远处转移、区域性扩散和局限性疾病患者的肿瘤包含这种遗传改变（P = 0.01）。在5q21 - 22的洛缺失与其他患者或肿瘤特征之间没有统计学意义的相关性，但洛缺失更常见于重度吸烟者、不常饮酒者以及含有p53突变或HPV-DNA的肿瘤中。在单变量分析中，5q21 - 22的洛缺失与不良预后相关（风险比= 1.8，95% CI = 0.8，4.5）;调整疾病分期后，这种关系不再持续（风险比= 1.1，95% CI = 0.4，3.1）。这些数据提供了进一步的证据，APC基因和/或其他基因在5q21 - 22的失活是常见的，并可能参与口腔SCC的发展和/或进展。需要更大规模的研究来确定5q21 - 22的洛缺失是否与已知的口腔鳞癌病因学因素和/或口腔鳞癌患者的预后有关，以及与这些恶性肿瘤中涉及的其他位点的遗传不稳定性有关
We determined the frequency of loss of heterozygosity (LOH) at chromosome 5q21–22 (adenomatous polyposis gene region) in oral SCC from 49 patients using PCR‐based assays. Of 43 informative (heterozygous) tumors, 41.9% [95% confidence interval (CI)=27.0, 57.9] contained LOH at 5q21–22. LOH at 5q21–22 was strongly associated with stage at diagnosis: 100% (3/3), 50% (13/26), and 14% (2/14) of tumors from patients with distant metastases, regional spread, and localized disease, respectively, contained this genetic alteration (P=0.01). There were no statistically significant associations between LOH at 5q21–22 and other patient or tumor characteristics, but LOH was more commonly found in the tumors of heavy smokers, infrequent alcohol consumers, and in tumors containing eitherp53mutations or HPV‐DNA. In univariate analyses, LOH at 5q21–22 was associated with poor prognosis (hazard ratio=1.8, 95% CI 0.8, 4.5); this relationship did not persist after adjustment for stage of disease (hazard ratio=1.1, 95% CI=0.4, 3.1). These data provide further evidence that inactivation of theAPCgene and/or other genes at 5q21–22 is common and may be involved in the development and/or progression of oral SCC. Larger studies are needed to determine whether LOH at 5q21–22 is linked to known oral SCC etiologic factors and/or the prognosis of oral SCC patients, as well as to genetic instability at other loci involved in these malignancies