食管鳞状细胞癌染色体13q11-12杂合性丢失

Loss of heterozygosity on chromosome 13q11-12 in esophageal squamous cell carcinoma

目的分析食管鳞状细胞癌(esophageal squamous cell carcinoma,ESCC)在13号染色体长臂11-12区(13q11-12)上的等位基因杂合性丢失(LOH),以期寻找13q11-12区上可能存在的与食管鳞状细胞癌有关肿瘤抑制基因的缺失区域。方法用9个位于13q11-12区的微卫星标志物,对56例ESCC患者组织切片激光显微切割后,进行PCR-LOH分析;56例ESCC患者包括34例有上消化道癌家族史,22例无上消化道癌家族史。结果56例ESCC患者中,49例(87.5%)显示一个或更多位点LOH;并发现一个LOH高频率区,位于位点D13S787和D13S221之间,物理距离仅有1.83 Mb;在位点D13S1236有上消化道癌家族史组LOH为89%,明显高于无上消化道癌家族史组53%(P=0.031<0.05),差异有显著性意义。结论研究提示染色体13q11-12的LOH可能在食管癌发生、发展中起重要作用;在染色体13q11-12区上,可能存在一个或多个与ESCC发生发展有关的肿瘤抑制基因(TSG)。

Objective To detect the status of loss of heterozygosity （LOH） on chromosome 13q11-12 in esophageal squamous cell carcinoma （ESCC） and determine a minimum loss region of ESCC related tumor suppression gene （TSG）. Methods Nine microstatellite markers spinning chromosome bands 13q11-12 were used to examine 56 ESCC patients by PCR-LOH and laser capture microdissection（LCM）, including 34 with a family history of upper gastrointestinal cancer and 22 without a family history of cancer. Results The total LOH frequency was 87.5% in 56 ESCC. One commonly deleted region was identified and located on band 13q12.1, between markers D13S787 and D13S221. One marker （D13S1236） had a higher LOH frequency in those patients with a family history of upper gastrointestinal cancer compared to patients without such a history （P = 0. 031 〈 0.05）. Conclusion One and more unidentified TSGs are located on chromosome arm 13q11-12 that play a role in the development of ESC.