{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T20:16:48Z","timestamp":1790108208692,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005847","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>With no more than two dozen cases reported in the literature, malignant peripheral nerve sheath tumor (MPNST) is a rare primary mesenchymal neoplasm arising in the female genital tract. Most cases occurred in middle\u2010aged adults with high grade histology, unfavorable clinical outcome, and no history of neurofibromatosis type 1. Its extreme rarity in this site no doubt poses a diagnostic challenge during routine clinical practice. In the following, we report an additional case of uterine MPNST occurring in a 49\u2010year\u2010old Chinese woman, which was initially misdiagnosed as a leiomyosarcoma. The primary tumor showed two distinctive components\u2014a high\u2010grade poorly differentiated component with markedly pleomorphic spindle cells arranged in a peritheliomatous pattern; and a leiomyosarcoma\u2010like (LMS\u2010like) component with tumor cells displaying obvious myoid differentiation. The patient suffered a recurrence less than 2\u2009years later with the recurrent tumor demonstrating similar features to the high\u2010grade component of the primary tumor. The patient eventually succumbed 46\u2009months later after developing another recurrence despite receiving targeted therapy and chemotherapy. On retrospective molecular analysis, no clinically relevant fusion transcript was detected on RNA sequencing. Interestingly instead, DNA methylation analysis showed the tumor clustered with the \u201cMPNST\u201d group in the German Cancer Research Center (DKFZ) sarcoma classifier. The tumor was also found to have <jats:italic>EED<\/jats:italic> gene homozygous deletion, multiple copy number alterations and loss of H3K27me3 expression in both high\u2010grade and LMS\u2010like components. Combining histology with all the ancillary tests results, the diagnosis was most consistent with MPNST. Our case highlights the diagnostic pitfalls for MPNST arising in the female genital tract and the potential clinical utility of DNA methylation analysis.<\/jats:p>","DOI":"10.1002\/gcc.70006","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T12:04:32Z","timestamp":1730981072000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Malignant Peripheral Nerve Sheath Tumor (<scp>MPNST<\/scp>) With Smooth Muscle Differentiation of the Uterus\u2014A Case Report With Emphasis on Diagnostic Pitfalls and Value of <scp>DNA<\/scp> Methylation Analysis"],"prefix":"10.1002","volume":"63","author":[{"given":"Horace\u00a0M.\u00a0H.","family":"Cheung","sequence":"first","affiliation":[{"name":"Department of Pathology, School of Clinical Medicine The University of Hong Kong  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony\u00a0P.\u00a0Y.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine The University of Hong Kong  Hong Kong China"},{"name":"Department of Paediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"},{"name":"Division of Haematology and Oncology The Hospital for Sick Children  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximus\u00a0C.\u00a0F.","family":"Yeung","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Clinical Medicine The University of Hong Kong  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000655"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.23227"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0000000000000453"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.29271\/jcpsp.2022.Supp1.S24"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2023.14201"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gore.2024.101422"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.23630"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13224-023-01874-5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature26000"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20603-4"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-022-01365-w"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.23041"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.70006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T05:43:12Z","timestamp":1732772592000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.70006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":12,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/gcc.70006"],"URL":"https:\/\/doi.org\/10.1002\/gcc.70006","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"2024-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70006"}}