{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T09:06:17Z","timestamp":1789376777557,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pathology International"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Tumors exhibiting mismatch repair deficiency without detectable germline mutations via standard multigene panel testing are often classified as Lynch\u2010like syndrome. In the present report, we describe the case of a 47\u2010year\u2010old man presenting with synchronous axillary sebaceous carcinoma and colonic medullary carcinoma. Although initial germline multigene panel testing failed to identify pathogenic variants, a high degree of pathological suspicion for Muir\u2013Torre syndrome remained. Immunohistochemistry revealed a concordant loss of MSH2 and MSH6 expression in both the extraocular sebaceous carcinoma and the colonic medullary carcinoma. This identical protein\u2010loss pattern detected across anatomically distinct tumors served as decisive pathological evidence of an underlying germline defect rather than independent biallelic somatic mutations. Consequently, whole\u2010genome sequencing was performed to resolve the discrepancy between the pathological findings and multigene panel testing results, successfully identifying a germline intronic\n                    <jats:italic>MSH2<\/jats:italic>\n                    variant (NM_000251.3:c.2459\u201012A&gt;G). Subsequent RNA analysis confirmed aberrant splicing with an 11\u2010bp insertion. In conclusion, the present case illustrates that concordant mismatch repair protein loss across multiple tumors provides compelling morphological evidence to guide pathologists in reconsidering negative panel results and pursuing comprehensive genomic investigation to identify pathogenic intronic variants.\n                  <\/jats:p>","DOI":"10.1111\/pin.70164","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T05:17:18Z","timestamp":1786598238000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Muir\u2013Torre Syndrome Associated With a Cryptic Intronic\n                    <i>MSH2<\/i>\n                    Variant Identified via Whole\u2010Genome Sequencing: A Case Report"],"prefix":"10.1111","volume":"76","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9700-2499","authenticated-orcid":false,"given":"Keisuke","family":"Noda","sequence":"first","affiliation":[{"name":"Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"},{"name":"Division of Surgical Oncology, Department of Surgery Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9589-5796","authenticated-orcid":false,"given":"Hirokazu","family":"Kurohama","sequence":"additional","affiliation":[{"name":"Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"},{"name":"Regional Diagnostic Pathology Support Center Nagasaki University Hospital Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7345-2014","authenticated-orcid":false,"given":"Katsuya","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Atomic Bomb Disease Institute Nagasaki University Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5050-2509","authenticated-orcid":false,"given":"Hiroyuki","family":"Mishima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Atomic Bomb Disease Institute Nagasaki University Nagasaki 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Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3209-5780","authenticated-orcid":false,"given":"Koh\u2010ichiro","family":"Yoshiura","sequence":"additional","affiliation":[{"name":"Clinical Genomics Center Nagasaki University Hospital Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4344-2322","authenticated-orcid":false,"given":"Keitaro","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Division of Surgical Oncology, Department of Surgery Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9036-8735","authenticated-orcid":false,"given":"Masahiro","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute Nagasaki University Graduate School of 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