Pelvic Carcinosarcoma Showing a Diverse Histology and Hierarchical Gene Mutation with a Common POLE Mutation to Endometrial Endometroid Carcinoma: A Case Report. (December 2022)

• Record Type: Journal Article
• Authors: Kitazono, Ikumi; Akahane, Toshiaki; Kobayashi, Yusuke; Yanazume, Shintaro; Tabata, Kazuhiro; Tasaki, Takashi; Noguchi, Hirotsugu; Kirishima, Mari; Higashi, Michiyo; Kobayashi, Hiroaki; Tanimoto, Akihide
• Is Part Of: International journal of surgical pathology. Volume 30:Number 8(2022)
• Page Start: 891
• Page End: 899
• Publication Date: 2022-12
• Subjects: endometrial cancer -- p.T457del POLE mutation -- carcinosarcoma -- divergent histology; Pathology, Surgical -- Periodicals; 617.07
• DOI: 10.1177/10668969221088880
• Languages: English
• ISSNs: 1066-8969

Abstract

POLE mutation-type endometrial cancer is characterized by an extremely high tumor mutation burden. Most POLE mutation-type endometrial cancers are histologically endometrioid carcinomas, and POLE mutation-type carcinosarcomas are rare among endometrial cancers. We report a case of endometrial and pelvic cancer in a 53-year-old woman who was analyzed using next-generating sequencing. The endometrial lesion harbored a p.T457del POLE mutation with an elevated tumor mutation burden and low microsatellite instability. The pelvic lesion showed divergent histological features, consisting of high-grade endometrioid carcinoma, neuroendocrine carcinoma, and chondrosarcoma. In addition to the common POLE mutation detected in the endometrial lesion, the pelvic lesion in each element showed additional gene mutations in a hierarchical manner. Therefore, it is indicated that the p.T457del POLE mutation is a pathogenic mutation and may be related to POLE mutation-induced carcinogenesis and divergent morphogenesis in endometrial cancer.