{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T11:38:39Z","timestamp":1763552319979,"version":"3.40.4"},"reference-count":9,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Urol Int"],"abstract":"<jats:p>Introduction: Penile squamous cell carcinoma (PSCC) is a rare malignancy in men with poor survival in metastatic disease. Lynch syndrome (LS) is a cancer predisposition, autosomal-dominant, inherited disorder that arises from loss of function variants in mismatch repair genes. Case Presentation: Here, we reported a PSCC patient who was suspected with LS caused by a heterozygous PMS2 D526Afs*69 variant. A 57-year-old male with PSCC underwent pelvic lymph node dissection and bilateral groin lymph node dissection due to metastatic disease. He has a family history of colon cancer and brain cancer. Comprehensive genomic sequencing of his tumor specimen identified 19 somatic mutations with a high tumor mutation burden (14.03 mutations per Mb) and a high frequency of microsatellite instability. Additionally, a germline PMS2 D526Afs*69 mutation was identified in the peripheral blood sample. Immunohistochemistry analysis showed complete loss of PMS2 and MLH1 expression in his tumor. Conclusion: These observations provided evidence suggesting that PSCC could be part of the LS spectrum. <\/jats:p>","DOI":"10.1159\/000541252","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T21:03:55Z","timestamp":1725311035000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["The First Case of Lynch Syndrome-Associated Penile Cancer Harboring a Heterozygous PMS2 Frameshift Variant"],"prefix":"10.1159","author":[{"given":"Zhiqiang","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jibin","family":"Qiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dujuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deyi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,9,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/s41416-022-02059-z"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.33763"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15010075"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/apt.16826"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djab029"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v10.i20.7105"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1177\/17588359221127254"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-21-0139"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajur.2022.05.009"}],"container-title":["Urologia Internationalis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/uin\/article-pdf\/doi\/10.1159\/000541252\/4289646\/000541252.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/uin\/article-pdf\/doi\/10.1159\/000541252\/4289646\/000541252.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:39:52Z","timestamp":1745422792000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000541252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,2]]},"references-count":9,"URL":"https:\/\/doi.org\/10.1159\/000541252","archive":["Portico"],"relation":{},"ISSN":["0042-1138","1423-0399"],"issn-type":[{"type":"print","value":"0042-1138"},{"type":"electronic","value":"1423-0399"}],"subject":[],"published":{"date-parts":[[2024,9,2]]}}}