Colonic Tubular Adenoma with Clear Cell Change: Case Report with Whole-Exome Sequencing and Updated Review of the Literature.
摘要：
Colorectal tubular adenomas displaying clear cell change are rare entities, with unknown clinical relevance, prognosis, immunohistochemical, and molecular features. Hereby we report a case of a 43-year-old female patient with a rectosigmoid polyp. Histologically, conventional dysplasia was visible with scattered areas displaying clear cell change. Whole-exome sequencing (WES) was carried out and revealed high tumour mutation burden and 7 pathogenic mutations, including TP53, APC, FGFR4, EHBP1, IL4R, TYR, and ACTN3. Clear cell change may only be present in less than 0.1% of adenomas. Aetiology is not well understood; additionally, few authors suggest autolysis or fixation problems. Our WES resulted in newly found pathogenic mutations, and high mutation burden, proving the lesion's neoplastic origin. Hitherto, neither special stainings nor immunohistochemical markers proved to be useful in the diagnostic process. From a differential diagnostic perspective, enteroblastic differentiation, primary and secondary clear cell adenocarcinoma has to be excluded.
收起
展开
DOI：
10.1159/000538705
被引量：
年份：
1970
ResearchGate
(全网免费下载)
钛学术
(全网免费下载)
通过 文献互助 平台发起求助，成功后即可免费获取论文全文。
求助方法1：
知识发现用户
每天可免费求助50篇
求助方法1：
关注微信公众号
每天可免费求助2篇
求助方法2：
完成求助需要支付5财富值
您目前有 1000 财富值
相似文献(98)
参考文献(20)
引证文献(0)
来源期刊
影响因子：暂无数据
JCR分区： 暂无
中科院分区：暂无
