基底细胞癌、鳞状细胞癌和Bowen病9p21、9q22.2-q22.3杂合性丢失的研究

Loss of Heterozygosity on Chromosome 9p21, 9q22.2-22.3 in Basal Cell Carcinoma, Squamous Cell Carcinoma and Bowen′ s Disease

目的 探讨 9号染色体的改变在皮肤肿瘤发生过程中的作用。 方法 应用 D9S319(9p21)和 D9S299(9q22.2-q22.3)2个座位微卫星 DNA多态标记，对基底细胞癌、鳞状细胞癌和 Bowen病进行了杂合性丢失分析。 结果 在可提供信息的 10例基底细胞癌、 19例鳞状细胞癌和 4例 Bowen病中，均未观察到 D9S319(9p21)杂合性丢失的存在； 10例基底细胞癌中，有 2例在 9q22.2-q22.3(D9S299)位点出现杂合性丢失；因此，在 9q可能存在具有潜力的抑癌基因。而在 21例鳞状细胞癌及 4例 Bowen病中，均未观察到 D9S299杂合性丢失的存在。结论 9q22.2-q22.3可能存在具有潜力的抑癌基因，其缺失在基底细胞癌的发生中起一定作用。

Objective To investigate the role of allele loss on chromosome 9 in the pathogenesis of basal cell carcinoma, squamous cell carcinoma and Bowen′ s disease.Methods Two polymorphic microsatellite sequences at loci D9S319 (9p21) and D9S299 (9q22.2-q22.3) were examined by polymerase chain reaction for loss of heterozygosity. Results Loss of heterozygosity with D9S319 (9p21) marker was not observed in 10 informative cases of sporadic basal cell carcinoma, 19 cases of squamous cell carcinoma and 4 cases of Bowen′ s disease. Allelic deletion of D9S299 was not found in all 21 informative cases of squamous cell carcinoma and 4 cases of Bowen′ s disease. D9S299 (9q22.2-22.3) allele loss occurred in 2 of 10 informative cases of sporadic basal cell carcinoma, indicating that there might be a susceptible tumor suppressor gene on chromosome 9. Conclusion Our findings suggest that chromosome 9q22.2-22.3 might contain a putative tumor suppressor gene, and loss of which may play an important role in the pathogenesis of basal cell carcinoma.