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Accurate tumor lineage identification is crucial for classification and management, particularly in mixed tumors with overlapping morphology and immunohistochemical findings plus shared mutations. Reported cases often lack genetic testing. This case describes high-grade endometrioid adenocarcinoma with yolk sac tumor differentiation, highlighting diagnostic challenges and the value of molecular profiling to clarify tumor phenotype.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/genetics-of-high-grade-endometrioid-adenocarcinoma-of-the-ovary-with-yolk-sac-differentiation-a-case-report/454278/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/genetics-of-high-grade-endometrioid-adenocarcinoma-of-the-ovary-with-yolk-sac-differentiation-a-case-report/454278.png","ImageObject",300,407,{"name":92,"@type":93},"Sophia Brooks","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":52},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"Why is genetic testing important in ovarian epithelial tumors with yolk sac differentiation?","Question",{"text":112,"@type":113},"Genetic testing helps clarify tumor lineage and supports correct classification and treatment, especially when morphology and immunohistochemistry overlap or share mutations.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What genetic alterations were identified in this reported case?",{"text":117,"@type":113},"Genomic analysis revealed pathogenic mutations in CTNNB1, ARID1A, and PIK3CA, supporting an endometrioid origin.",{"name":119,"@type":110,"acceptedAnswer":120},"How did the tumor present clinically and on imaging?",{"text":121,"@type":113},"The patient had a progressively enlarging pelvic mass with worsening pelvic pain over eight months, and pelvic MRI showed a large complex cystic left ovarian mass with a significant solid component.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},454278,1791165131,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":52,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962084925636,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","Review began 11/18/2025  \nReview ended 12/01/2025  \nPublished 12/06/2025  \n© Copyright 2025  \nAmmann et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CCBY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.98594  \nOpen Access Case Report  \nGenetics of High-Grade Endometrioid Adenocarcinoma of the Ovary With Yolk Sac Differentiation: A Case Report  \nLindsey Ammann 1, Yelena Piazza 2 , Hatem Kaseb 2  \n1. School of Medicine, University of Central Florida College of Medicine, Orlando, USA 2. Clinical Sciences, University of Central Florida College of Medicine, Orlando, USA  \nCorresponding author: Hatem Kaseb, [hatem.kaseb@ucf.edu](hatem.kaseb@ucf.edu)  \nAbstract  \nYolk sac tumors (YST) are relatively rare ovarian neoplasms that typically occur in young women, whereas yolk sac differentiation in ovarian epithelial tumors represents an exceedingly rare malignancy of perimenopausal and postmenopausal women. The latter is usually associated with Müllerian epithelial neoplasms and is somatically derived. Accurate identification of tumor lineage is essential for proper classification and treatment, especially in mixed tumors with overlapping morphological and immunohistochemical features and shared mutations. Most of the reported cases have lacked genetic testing. Here, we present a case of high-grade endometrioid adenocarcinoma with yolk sac tumor differentiation in a perimenopausal woman. The tumor demonstrated an unusual morphology and immunohistochemical profile, raising the possibility of either a common early precursor or divergent differentiation. Genomic analysis revealed pathogenic mutations in CTNNB1, ARID1A, and PIK3CA, supporting an endometrioid origin. This case highlights the diagnostic challenges posed by rare ovarian tumors and emphasizes the role of molecular profiling in clarifying tumor phenotype. Pathologists should be aware of the potential association between epithelial tumors and yolk sac tumor differentiation, particularly in older patients, to avoid misdiagnosis and to ensure appropriate therapeutic strategies.  \nCategories: Genetics, Pathology, Oncology  \nKeywords: divergent differentiation, high-grade endometroid adenocarcinoma, ovarian epithelial tumors, perimenopausal woman, yolk sac differentiation  \nIntroduction  \nOvarian pure yolk sac tumors (YST) are the second most common germ cell pediatric neoplasms with wellknown sensitivity to chemotherapy [1,2] . Ovarian adenocarcinoma with YST differentiation is an extremely rare entity [3] . Among women who are perimenopausal/postmenopausal, YSTs typically present in association with other epithelial tumors (endometrioid adenocarcinoma, serous carcinoma, clear cell carcinoma, or carcinosarcoma) and are characterized by variable and diverse histological patterns [4] . Here, we present a case of endometroid adenocarcinoma with yolk sac differentiation that occurred in aperimenopausal woman with unusual morphological, immunohistochemical, and genetic profiles. Pure YSTs can be challenging to diagnose due to the morphological variability owing to their primitive endodermal nature [5] . Ovarian carcinomas with yolk sac differentiation are rare, and understanding their pathogenesis is essential for optimization of clinical management [6,7] .  \nCase Presentation  \nA 49-year-old multiparous woman (G3P3) with a history of bilateral tubal ligation and multiple caesarean sections presented with a progressively enlarging pelvic mass and worsening pelvic pain over eight months. The patient’s mother had a history of an unknown gynaecological cancer. Abdominal examination demonstrated significant bilateral lower abdominal tenderness with pain and fullness palpated up to the supraumbilical region. Pelvic MRI without contrast revealed a 15 cm complex cystic left ovarian mass extending from the pelvis to the m","cbCaipfky8oGvmSS","https://ap.wps.com/l/cbCaipfky8oGvmSS","pdf",4094619,"English","# Abstract\n# Introduction\n# Case Presentation\n## Imaging and Clinical Findings\n## Laboratory Findings\n## Pathology and Tumor Markers\n# How to Cite This Article","[{\"question\":\"Why is genetic testing important in ovarian epithelial tumors with yolk sac differentiation?\",\"answer\":\"Genetic testing helps clarify tumor lineage and supports correct classification and treatment, especially when morphology and immunohistochemistry overlap or share mutations.\"},{\"question\":\"What genetic alterations were identified in this reported case?\",\"answer\":\"Genomic analysis revealed pathogenic mutations in CTNNB1, ARID1A, and PIK3CA, supporting an endometrioid origin.\"},{\"question\":\"How did the tumor present clinically and on imaging?\",\"answer\":\"The patient had a progressively enlarging pelvic mass with worsening pelvic pain over eight months, and pelvic MRI showed a large complex cystic left ovarian mass with a significant solid component.\"}]","Genetics of High-Grade Endometrioid Adenocarcinoma of the Ovary With Yolk Sac Differentiation - A Case Report | PDF",1790740430,15]