Methylation profiling: a diagnostic tool for the diagnosis of Merkel cell carcinoma of the lymph node without detectable skin primary tumor.

IF 3.1 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2025-10-10 DOI:10.1007/s00428-025-04271-7

Paul-Louis Chantreau, Pierre Sohier, Mahtab Samimi, Matthias Tallegas, Anne Tallet, Serge Guyetant, Benjamin Goeppert, Maysa Al-Hussaini, Ferdinand Toberer, Nathalia Giese, Stéphanie Roessler, Andreas von Deimling, Thibault Kervarrec

{"title":"Methylation profiling: a diagnostic tool for the diagnosis of Merkel cell carcinoma of the lymph node without detectable skin primary tumor.","authors":"Paul-Louis Chantreau, Pierre Sohier, Mahtab Samimi, Matthias Tallegas, Anne Tallet, Serge Guyetant, Benjamin Goeppert, Maysa Al-Hussaini, Ferdinand Toberer, Nathalia Giese, Stéphanie Roessler, Andreas von Deimling, Thibault Kervarrec","doi":"10.1007/s00428-025-04271-7","DOIUrl":null,"url":null,"abstract":"<p><p>Merkel cell carcinoma (MCC) is an aggressive tumor mostly related to Merkel cell polyomavirus genomic integration. MCC can present either as a primary cutaneous tumor or as a lymph node metastasis without a primary skin tumor (MCCWOPT). The distinction between MCCWOPT and lymph node metastases of non-cutaneous neuroendocrine carcinomas remains challenging. The present study aims to determine whether the methylation profile can distinguish MCCWOPT from lymph node metastases of extracutaneous neuroendocrine carcinomas. Methylation profiles of twenty MCCWOPT were compared to 23 cutaneous MCC, 37 small-cell lung carcinomas, 17 and 34 well-differentiated neuroendocrine tumors of the ileum and pancreas. Among the controls, cutaneous MCC cases formed a cluster distinct from other extracutaneous neuroendocrine tumors. MCCWOPT clustered together with cutaneous MCC cases. Methylation profiling represents a promising additional tool for the diagnosis of MCCWOPT.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Virchows Archiv","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00428-025-04271-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Merkel cell carcinoma (MCC) is an aggressive tumor mostly related to Merkel cell polyomavirus genomic integration. MCC can present either as a primary cutaneous tumor or as a lymph node metastasis without a primary skin tumor (MCCWOPT). The distinction between MCCWOPT and lymph node metastases of non-cutaneous neuroendocrine carcinomas remains challenging. The present study aims to determine whether the methylation profile can distinguish MCCWOPT from lymph node metastases of extracutaneous neuroendocrine carcinomas. Methylation profiles of twenty MCCWOPT were compared to 23 cutaneous MCC, 37 small-cell lung carcinomas, 17 and 34 well-differentiated neuroendocrine tumors of the ileum and pancreas. Among the controls, cutaneous MCC cases formed a cluster distinct from other extracutaneous neuroendocrine tumors. MCCWOPT clustered together with cutaneous MCC cases. Methylation profiling represents a promising additional tool for the diagnosis of MCCWOPT.

查看原文本刊更多论文

甲基化分析：一个诊断工具，诊断默克尔细胞癌的淋巴结没有检测到皮肤原发肿瘤。

默克尔细胞癌（MCC）是一种侵袭性肿瘤，主要与默克尔细胞多瘤病毒基因组整合有关。MCC既可以表现为原发性皮肤肿瘤，也可以表现为无原发性皮肤肿瘤的淋巴结转移（MCCWOPT）。MCCWOPT与非皮肤神经内分泌癌淋巴结转移的区别仍然具有挑战性。本研究旨在确定甲基化谱是否可以区分MCCWOPT与皮外神经内分泌癌的淋巴结转移。将20例MCCWOPT的甲基化谱与23例皮肤MCC、37例小细胞肺癌、17例和34例回肠和胰腺高分化神经内分泌肿瘤进行比较。在对照组中，皮肤MCC病例形成了一个不同于其他皮外神经内分泌肿瘤的集群。MCCWOPT与皮肤MCC病例聚集。甲基化谱是诊断MCCWOPT的一种很有前途的附加工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.