Common occurrence of APC and K-ras gene mutations in the spectrum of colitis-associated neoplasias.
Common occurrence of APC and K-ras gene mutations in the spectrum of colitis-associated neoplasias.
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DOI：
10.1016/0016-5085(95)90064-0
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发表时间：
1995-02
期刊：
影响因子：
29.4
通讯作者：
Mark Redston;N. Papadopoulos;Carlos Caldas;K. Kinzler;Scott E. Kern
中科院分区：
文献类型：
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作者：
Mark Redston;N. Papadopoulos;Carlos Caldas;K. Kinzler;Scott E. Kern
背景/目的慢性结肠炎与结直肠肿瘤风险增加相关，因此需要在这一人群中进行早期诊断。目前对早期病变的遗传变化知之甚少。结肠炎相关肿瘤的情况下，APC和K-ras突变进行了分析，特别强调了频谱的非侵入性insulines.MethodsTen患者进行了研究。APC突变的体外合成的蛋白质分析进行了筛选，K-ras突变进行了筛选，通过连接assay.ResultsAPC突变5例，包括发育不良。K-ras基因突变存在于5例患者和所有类别的病变，包括5/14病变不确定的发育不良。只有2例患者没有发现突变。结论APC和K-ras基因突变是常见的结肠炎相关肿瘤，可以发生在肿瘤进展的早期。锯齿状病变和不确定发育不良的病变可能具有遗传变化，因此是克隆性的，突出了组织学上区分它们的重要性。APC和K-ras突变的检测有望作为监测项目的辅助手段。在其应用中需要小心，因为早期病变的可靠诊断被认为是临床重要性较低的，将提出新的问题，谨慎的病人管理。
Background/AimsChronic colitis is associated with an increased risk of colorectal neoplasia, creating a need for early diagnosis in this population. Little is yet known of the genetic changes of early lesions. Cases of colitis-associated neoplasia were analyzed for APC and K-ras mutations with special emphasis given to the spectrum of noninvasive lesions.MethodsTen patients were studied. APC mutations were screened by an in vitro synthesized protein assay, and K-ras mutations were screened by a ligation assay.ResultsAPC mutations were found in 5 patients, including dysplasias. K-ras mutations were present in 5 patients and in all classes of lesions, including 5 of 14 lesions indefinite for dysplasia. In only 2 patients were no mutations found.ConclusionsMutations of APC and K-ras are common in colitis-associated neoplasia and can occur early in neoplastic progression. Serrated lesions and lesions indefinite for dysplasia may harbor genetic changes and thus are clonal, highlighting the importance of distinguishing them histologically. Assays for APC and K-ras mutations are promising as adjuncts to surveillance programs. Care will be needed in their application because the confident diagnosis of early lesions presumed to be of lesser clinical importance will raise new issues concerning prudent patient management.