Department of Obstetrics & Gynecology, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Course of Advanced Cancer Medicine for Gynecologic Cancer, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Int J Surg Pathol. 2022 May;30(3):288-294. doi: 10.1177/10668969211037915. Epub 2021 Aug 31.
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, , , 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.
原发性阴道癌肉瘤（VCS）是一种极其罕见且侵袭性强的肿瘤，由混合的恶性上皮和间叶成分组成。我们报告了一例 VCS 病例，该病例接受了免疫组织化学和下一代测序（NGS）分析。一位 53 岁绝经后阴道出血的女性接受了手术切除，随后进行了同步放化疗。一个界限清楚的肿瘤呈不连续方式生长，位于宫颈和外阴均有一定距离的位置。显微镜下，肿瘤由腺癌成分和肉瘤成分组成，由片状生长的梭形细胞组成，我们将该肿瘤诊断为原发性阴道癌肉瘤。对每个成分的 NGS 分析确定了以下变体： 、 、KRAS 和 FBXW7。微卫星不稳定性（MSI）和肿瘤突变负担（TMB）的比较表明，在两种组织中，肉瘤成分的 MSI 和 TMB 均高于癌成分。该病例支持“单克隆理论”，其基因组谱与其他恶性混合 Müllerian 肿瘤相似。
