Department of Pathology, 208512Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Center for Human Genome and Gene Analysis, Kagoshima University Hospital, 9-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
Int J Surg Pathol. 2022 Dec;30(8):891-899. doi: 10.1177/10668969221088880. Epub 2022 Mar 31.
mutation-type endometrial cancer is characterized by an extremely high tumor mutation burden. Most mutation-type endometrial cancers are histologically endometrioid carcinomas, and 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 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 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 mutation is a pathogenic mutation and may be related to mutation-induced carcinogenesis and divergent morphogenesis in endometrial cancer.
突变型子宫内膜癌的特点是极高的肿瘤突变负担。大多数突变型子宫内膜癌组织学上为内膜样癌,而突变型癌肉瘤在子宫内膜癌中较为罕见。我们报告了一例 53 岁女性的子宫内膜和盆腔癌症病例,该病例采用下一代测序进行了分析。子宫内膜病变携带 p.T457del 突变,肿瘤突变负担高,微卫星不稳定低。盆腔病变显示出不同的组织学特征,包括高级别内膜样癌、神经内分泌癌和软骨肉瘤。除了在子宫内膜病变中检测到的常见突变外,盆腔病变中的每个成分还依次显示出额外的基因突变。因此,提示 p.T457del 突变是一种致病性突变,可能与子宫内膜癌中的突变诱导的致癌作用和不同形态发生有关。