Two Components of Variant Profiles in Primary Vaginal Carcinosarcoma via Next-Generation Sequencing and a Literature Review

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.

Case report: Highly differentiated endometrial adenocarcinoma that collided with uterine cervical carcinosarcoma

“…Cervical carcinosarcoma is one of its types, and the literature on cervical carcinosarcoma is currently limited to case reports ( 4 ). It is also named a malignant mixed mesodermal tumor, which is composed of a carcinomatous component and a sarcomatous component; malignant mixed Müllerian tumor; or metaplastic carcinoma ( 5 ). In this study, we report a 54-year-old female who was diagnosed with highly differentiated endometrial adenocarcinoma with cervical carcinosarcoma.…”