Mokánszki Attila, Méhes Gábor, Csoma Szilvia Lilla, Kollár Sándor, Chang Chien Yi-Che
Department of Pathology, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.
Department of Pathology, Kenézy Gyula Teaching Hospital, University of Debrecen, H-4032 Debrecen, Hungary.
Diagnostics (Basel). 2021 Feb 1;11(2):212. doi: 10.3390/diagnostics11020212.
Merkel cell carcinoma (MCC) is a rare, high-grade, aggressive cutaneous neuroendocrine malignancy most commonly associated with sun-exposed areas of older individuals. A relatively newly identified human virus, the Merkel cell polyomavirus (MCPyV) has been implicated in the pathogenesis of MCC. Our study aimed to examine nine MCC cases and randomly selected 60 melanoma cases to identify MCPyV status and to elucidate genetic differences between virus-positive and -negative cases. Altogether, seven MCPyV-positive MCC samples and four melanoma samples were analyzed. In MCPyV-positive MCC , , , , and pathogenic variants were identified, while in virus-negative cases only benign variants were found. In MCPyV-positive melanoma cases, besides mutations the following genes were also affected: , , , , and . In contrast to studies found in the literature, a higher tumor burden was detected in virus-associated MCC compared to MCPyV-negative cases. No association was identified between virus infection and tumor burden in melanoma samples. We concluded that analyzing the key morphologic and immunohistological features of MCC is critical to avoid confusion with other cutaneous malignancies. Molecular genetic investigations such as next-generation sequencing (NGS) enable molecular stratification, which may have future clinical impact.
默克尔细胞癌（MCC）是一种罕见的、高级别、侵袭性皮肤神经内分泌恶性肿瘤，最常发生于老年人暴露于阳光下的部位。默克尔细胞多瘤病毒（MCPyV）是一种相对较新发现的人类病毒，已被认为与MCC的发病机制有关。我们的研究旨在检测9例MCC病例，并随机选择60例黑色素瘤病例，以确定MCPyV状态，并阐明病毒阳性和阴性病例之间的基因差异。总共分析了7个MCPyV阳性的MCC样本和4个黑色素瘤样本。在MCPyV阳性的MCC中，鉴定出了 、 、 、 和 致病变体，而在病毒阴性病例中仅发现良性变体。在MCPyV阳性的黑色素瘤病例中，除了 突变外，以下基因也受到影响： 、 、 、 和 。与文献中的研究结果相反，与MCPyV阴性病例相比，病毒相关的MCC中检测到更高的肿瘤负荷。在黑色素瘤样本中未发现病毒感染与肿瘤负荷之间存在关联。我们得出结论，分析MCC的关键形态学和免疫组织学特征对于避免与其他皮肤恶性肿瘤混淆至关重要。诸如下一代测序（NGS）等分子遗传学研究能够进行分子分层，这可能对未来的临床产生影响。
