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Merkel细胞癌是一种罕见的高度侵袭性的皮肤神经内分泌肿瘤,约80%的病例与Merkel细胞多瘤病毒(MCV)感染有关,病毒大T抗原持续表达可能是其发生机制之一。MCV阳性与阴性的Merkel细胞癌在临床表现和形态学上存在重叠,目前分析大多关注MCV阳性Merkel细胞癌的发生机制,对阴性病例则认识不足。本文应用外显子组测序分析5例MCV阳性和3例MCV阴性的Merkel细胞癌样本的基因变异情况。结果发现两组病例在点突变、DNA拷贝数改
Merkel cell carcinoma is a rare and highly invasive cutaneous neuroendocrine tumor. About 80% of the cases are associated with Merkel cell polyomavirus (MCV) infection. Sustained expression of large T antigen in the virus may be one of its mechanisms. MCV positive and negative Merkel cell carcinoma in the clinical manifestations and morphological overlap, the current analysis of most concern about the pathogenesis of MCV-positive Merkel cell carcinoma, the lack of understanding of the negative cases. In this paper, exon sequencing was used to analyze the genetic variation in 5 samples of MCV positive and 3 MCV negative samples of Merkel cell carcinoma. The results showed that two groups of cases in the point mutation, DNA copy number change