Polyomavirus-Positive Merkel Cell Carcinoma Derived from a Trichoblastoma Suggests an Epithelial Origin of this Merkel Cell Carcinoma
Polyomavirus-Positive Merkel Cell Carcinoma Derived from a Trichoblastoma Suggests an Epithelial Origin of this Merkel Cell Carcinoma
复制标题
DOI：
10.1016/j.jid.2019.09.026
复制
发表时间：
2020-05-01
影响因子：
6.5
通讯作者：
Houben, Roland
中科院分区：
文献类型：
--
作者：
Kervarrec, Thibault;Aljundi, Mohanad;Houben, Roland
默克尔细胞癌（MCC）是一种侵袭性皮肤神经内分泌癌，是迄今为止已知的唯一一种经常由多瘤病毒引起的人类癌症。然而，默克尔细胞多瘤病毒（MCPyV）靶向哪些细胞以产生表型多面MCC细胞是有争议的问题。为了评估MCPyV阳性MCC的起源谱系，通过大规模平行测序进行了一种非常罕见的肿瘤的遗传分析，该肿瘤结合了良性毛母细胞瘤和MCPyV阳性MCC。虽然发现MCPyV仅整合在MCC部分中，但两种肿瘤组分共有六个体细胞突变。毛母细胞瘤和MCPyV阳性MCC部分的合并肿瘤之间的突变重叠意味着MCPyV整合发生在MCC发展之前的上皮肿瘤细胞中。因此，我们的报告表明，MCPyV阳性MCC可以来自上皮谱系。
Merkel cell carcinoma (MCC), an aggressive neuroendocrine carcinoma of the skin, is to date the only human cancer known to be frequently caused by a polyomavirus. However, it is a matter of debate which cells are targeted by the Merkel cell polyomavirus (MCPyV) to give rise to the phenotypically multifaceted MCC cells. To assess the lineage of origin of MCPyV-positive MCC, genetic analysis of a very rare tumor combining benign trichoblastoma and MCPyV-positive MCC was conducted by massive parallel sequencing. Although MCPyV was found to be integrated only in the MCC part, six somatic mutations were shared by both tumor components. The mutational overlap between the trichoblastoma and MCPyV-positive MCC parts of the combined tumor implies that MCPyV integration occurred in an epithelial tumor cell before MCC development. Therefore, our report demonstrates that MCPyV-positive MCC can derive from the epithelial lineage.