Two Components of Variant Profiles in Primary Vaginal Carcinosarcoma via Next-Generation Sequencing and a Literature Review. (May 2022)

• Record Type: Journal Article
• Authors: Kotoku, Rakan; Yanazume, Shintaro; Kuroda, Takafumi; Kobayashi, Yusuke; Kitazono, Ikumi; Akahane, Toshiaki; Tanimoto, Akihide; Kobayashi, Hiroaki
• Is Part Of: International journal of surgical pathology. Volume 30:Number 3(2022)
• Page Start: 288
• Page End: 294
• Publication Date: 2022-05
• Subjects: vaginal carcinosarcoma -- carcinosarcoma -- vaginal cancer -- genotyping -- mutation -- TP53 -- PIK3CA -- KRAS -- FBXW7 -- uterine carcinosarcoma -- MSI -- NGS; Pathology, Surgical -- Periodicals; 617.07
• DOI: 10.1177/10668969211037915
• Languages: English
• ISSNs: 1066-8969

Abstract

Primary vaginal carcinosarcoma (VCS) is an extremely rare and aggressive tumor consisting of admixed malignant epithelial and mesenchymal elements. We report a case of VCS that was subjected to analysis by immunohistochemistry and next-generation sequencing (NGS). A 53-year-old woman with post-menopausal vaginal bleeding underwent surgical excision followed by concurrent chemoradiation. A well demarcated tumor was growing in a discontinuous fashion at a location some distance from both the cervix and vulva. Microscopically, the tumor consisted of adenocarcinoma components and sarcoma components consisting of a sheet-like growth of spindle-shaped cells, and we diagnosed this tumor as primary vaginal carcinosarcoma. NGS analysis of each component identified the following variants, TP53, PIK3CA, KRAS and FBXW7. A comparison of microsatellite instability (MSI) and tumor mutation burden (TMB) showed that within both tissues the sarcomatous components had a higher MSI and TMB than the carcinomatous components. This case supports "a monoclonal theory" with the genome profile being similar to other malignant mixed Müllerian tumors.