Fine deletion mapping in esophageal cancer by linkage mapping set

我们利用连锁作图集研究了食管癌所有染色体上的缺失图谱。3p、5q、6p、6q、9p、9q、17p、17q、18q和21q杂合性缺失超过40%。最常见的LOH被确认在17q25.1，在此之前被确定为TOC （tylosis oesophageal cancer，食管癌）位点，负责食管癌高风险的家系。未知的肿瘤抑制基因可能存在于17q25.1上。同时缺失5q， 9p， 17p的患者的疾病结局比不缺失5q， 9p， 17p的患者差。在基底细胞癌中，PTCH基因的9q缺失和突变频繁发生。在一半的食管癌患者中观察到p16/CDKN2基因的纯合缺失和从头甲基化，这些患者表现出不良的预后。

We investigated the deletion map on all chromosomes of esophageal cancers using linkage mapping set. Loss of heterozygosity on 3p, 5q, 6p, 6q, 9p, 9q, 17p, 17q, 18q, and 21q was over 40%. The most frequent LOH was confirmed on 17q25.1, in which was previously identified as the TOC (tylosis oesophageal cancer) locus, responsible for the pedigrees with the high risk of esophageal cancer. Unknown tumor suppressor qene may exsist on 17q25.1. Disease outcome of patients exhibiting imultaneous deletion of 5q, 9p, 17p was worse than in patients without them. Frequent deletion on 9q and mutation of the PTCH gene occured in basaloid cell carcinomas. Homozygous deletion and de novo methylation of the p16/CDKN2 gene were observed in half of esophageal cancer patients, who exhibited wores prognoses.