Thorstensen L, Qvist H, Heim S, Liefers G J, Nesland J M, Giercksky K E, Lothe R A
Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.
Neoplasia. 2000 Nov-Dec;2(6):514-22. doi: 10.1038/sj.neo.7900111.
Cytogenetic and molecular genetic analyses of colorectal adenomas and carcinomas have shown that loss of the distal part of chromosome arm 1p is common, particularly in tumors of the left colon. Because the importance of 1p loss in colorectal cancer metastases is unknown, we compared the frequency, exact site and extent of 1p deletions in primary carcinomas (n=28), local recurrences (n=19) and metastases (n=33) from 67 colorectal cancer patients using 14 markers in an allelic imbalance study. Loss of 1p was found in 50% of the primary carcinomas, 33% of the local recurrences, and 64% of the metastases, revealing a significant difference between the local recurrences and the metastases (P=.04). The smallest region of 1p deletion overlap (SRO) defined separately for each group of lesions had the region between markers D1S2647 and D1S2644, at 1p35-36, in common. The genes PLA2G2A (1p35.1-36) and TP73 (1p36.3) were shown to lie outside this consistently lost region, suggesting that neither of them are targets for the 1p loss. In the second part of the study, microdissected primary carcinomas and distant metastases from the same colorectal cancer patients (n=18) were analyzed, and the same 1p genotype was found in the majority of patients (12/18, 67%). The finding that primary carcinoma cells with metastatic ability usually contain 1p deletions, and that some cases lacking 1p alterations in the primary tumor acquire such changes during growth of a metastatic lesion, supports the notion that 1p loss may be important both early and late in colorectal carcinogenesis, with the apparent exception of local recurrences.
对结肠直肠腺瘤和癌的细胞遗传学及分子遗传学分析表明,1号染色体短臂远端缺失很常见,尤其是在左半结肠癌中。由于1p缺失在结直肠癌转移中的重要性尚不清楚,我们在一项等位基因失衡研究中,使用14个标记物比较了67例结直肠癌患者的原发性癌(n = 28)、局部复发癌(n = 19)和转移癌(n = 33)中1p缺失的频率、确切位点及范围。在50%的原发性癌、33%的局部复发癌和64%的转移癌中发现了1p缺失,局部复发癌和转移癌之间存在显著差异(P = 0.04)。为每组病变分别定义的1p缺失重叠最小区域(SRO)在1p35 - 36处,位于标记物D1S2647和D1S2644之间。基因PLA2G2A(1p35.1 - 36)和TP73(1p36.3)位于这个始终缺失的区域之外,表明它们都不是1p缺失的靶点。在研究的第二部分,对来自同一结直肠癌患者(n = 18)的显微切割原发性癌和远处转移癌进行了分析,大多数患者(12/18,67%)具有相同的1p基因型。具有转移能力的原发性癌细胞通常含有1p缺失,以及一些原发性肿瘤中缺乏1p改变的病例在转移灶生长过程中出现这种变化,这一发现支持了1p缺失在结直肠癌发生的早期和晚期可能都很重要的观点,但局部复发癌明显除外。