食管鳞状细胞癌染色体13q12-13杂合性丢失  

Loss of Heterozygosity on Chromosome 13q12-13 in Esophageal Squamous Cell Carcinoma

作　　者：李光[1] 张海峰[2] 王军梅[1] 徐妙生[1] 王全红[3] 

机构地区：[1]北京天坛医院病理科,100050 [2]太原市第二人民医院检验科 [3]山西省肿瘤医院病理科

出　　处：《肿瘤防治研究》2005年第11期685-688,共4页Cancer Research on Prevention and Treatment

摘　　要：目的分析食管鳞状细胞癌(ESCC)在13号染色体长臂1213区(13q1213)上的等位基因杂合性丢失(LOH),以期寻找13q1213区上可能存在的与ESCC有关肿瘤抑制基因(TSG)的缺失区域。方法用8个位于13q1213区的微卫星标志物,对56例ESCC患者进行PCRLOH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,48例(86%)显示一个或更多位点LOH;并发现一个LOH高频率区,位于位点D13S267和D13S219之间,物理距离仅有2.83Mb;在位点D13S1242有上消化道癌家族史组LOH为68%,明显高于无上消化道癌家族史组的18%,(P=0.003);在位点D13S289有上消化道癌家族史组LOH为82%,明显高于无上消化道癌家族史组的31%(P=0.008),有显著意义。结论研究提示染色体13q1213的LOH可能在食管癌发生发展中起重要作用,在染色体13q1213区上,可能存在一个或多个与ESCC发生发展有关肿瘤抑制基因(TSG)。Objective To detect the status of loss of heterozygosity （LOH） on chromosome 13q12-13 in esophageal squamous cell carcinoma （ECCC） and determine a minium loss region of ESC related tumor suppression gene （TSG）. Methods By means of laser capture microdissection, eight microstatellite markers spinning chromosome bands 13q12-13 were used to examine 56 ESCC patients by PCR-LOH, including 34 with a family history of upper gastrointestinal cancer and 22 without a family history of cancer. Results The total LOH frequency is 86% （48/56）. One commonly deleted region was identified：was located on band 13q 12. 3-q 13. 1, between markers D13S267 and D13S219. Two microsatellite markers （D13S1242 and D13S289 ） 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. 05）. Conclusion More than one unidentified tumor suppression genes （TSGs） are located on chromosome arm 13q that play a role in the development of ESCC.

关 键 词：食管鳞状细胞癌 杂合性丢失 肿瘤抑制基因 

分 类 号：R735.1[医药卫生—肿瘤]