Ogasawara S, Maesawa C, Tamura G, Satodate R
Department of Pathology, Iwate Medical University School of Medicine, Morioka, Japan.
Virchows Arch. 1994;424(6):607-11. doi: 10.1007/BF00195774.
The adenomatous polyposis coli (APC) gene is the target of the loss of chromosome 5q heterozygosity observed frequently in gastrointestinal tract carcinomas and is inactivated in these carcinomas. We screened 94 gastrointestinal tract carcinomas for APC mutations, by polymerase chain reaction single-strand conformation polymorphism (SSCP) analysis. Mutations were detected in 8 of 21 (38%) colorectal carcinomas in the mutation cluster region of the APC gene whereas no mutation was detected in any of 49 oesophageal and 24 gastric carcinomas, even though SSCP analysis was extended to include the 5' half of the APC gene exon 15. Direct DNA sequencing revealed that six of eight (75%) mutations in colorectal carcinomas resulted in truncated gene products. These findings confirm the significance of APC gene mutations in colorectal, but not oesophageal or gastric carcinomas. Some other tumour suppressor genes near the APC gene may be the target of the frequent allelic loss of chromosome 5q in oesophageal and gastric carcinomas.
腺瘤性结肠息肉病（APC）基因是在胃肠道癌中经常观察到的5号染色体q臂杂合性缺失的靶点，并且在这些癌症中失活。我们通过聚合酶链反应单链构象多态性（SSCP）分析，对94例胃肠道癌进行了APC突变筛查。在21例（38%）结肠直肠癌中，有8例在APC基因的突变簇区域检测到突变，而在49例食管癌和24例胃癌中均未检测到突变，尽管SSCP分析扩展到包括APC基因外显子15的5'端一半。直接DNA测序显示，结肠直肠癌中的8个突变中有6个（75%）导致基因产物截短。这些发现证实了APC基因突变在结肠直肠癌中的重要性，但在食管癌或胃癌中并非如此。APC基因附近的一些其他肿瘤抑制基因可能是食管癌和胃癌中5号染色体q臂频繁等位基因缺失的靶点。
