Zhao Ke, Hu Min, Li Xiaowen, Yang Runfeng, Huang Yi
Department of Gynecologic Oncology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China.
Department of Pathology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China.
Oncol Lett. 2024 Aug 30;28(5):523. doi: 10.3892/ol.2024.14656. eCollection 2024 Nov.
Endometriosis-associated adenocarcinoma of the rectum is rare and is usually misdiagnosed as colorectal carcinoma or other gynecological tumors. In the current report, the clinicopathological features of endometriosis-associated adenocarcinoma of the rectum in 2 patients were retrospectively analyzed and a literature review regarding this rare malignancy is presented. Case 1, a 49-year-old postmenopausal female patient, was admitted to Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology (Wuhan, China) due to a pelvic mass. Pelvic MRI revealed a 4.5×3.7-cm mass in the rectal wall, which severely adhered to the uterine wall. Microscopically, moderately differentiated glandular adenocarcinoma diffusely extended throughout all intestinal wall layers. Adenomyosis was found in the uterine body adherent to the rectum. Case 2, a 38-year-old reproductive female patient, presented with hematochezia. Histopathology of the resected tumor demonstrated benign endometriosis foci and atypical hyperplasia glands contiguous with endometrioid carcinoma invading the intestinal wall, and no other primary tumor sites were found, which satisfied the criteria for the diagnosis of malignant transformation of endometriosis of the rectum. Immunohistochemical (IHC) staining of both tumors revealed a Müllerian origin but not an intestinal origin. Furthermore, next-generation sequencing detected mutations of the (c.329dup), (c.35G>T), (c.3140A>G) and (c.750_751del) genes, and that microsatellite instability was high in case 1. In conclusion, endometriosis-associated adenocarcinoma of the rectum is a rare malignant tumor that should be distinguished from colorectal carcinoma for optimal treatment. Surgery and pathologic examination with IHC staining, even with molecular analysis, are essential for the final diagnosis. Primary cytoreductive surgery with resection of all macroscopic detectable lesions should be performed whenever possible. More prospective, multicenter, large-scale trials are required to examine the regimens and therapeutic value of adjuvant chemotherapy or radiology.
子宫内膜异位症相关的直肠腺癌较为罕见，通常被误诊为结直肠癌或其他妇科肿瘤。在本报告中，回顾性分析了2例子宫内膜异位症相关直肠腺癌患者的临床病理特征，并对这种罕见恶性肿瘤进行了文献综述。病例1，一名49岁的绝经后女性患者，因盆腔肿块入住华中科技大学同济医学院附属湖北肿瘤医院（中国武汉）。盆腔磁共振成像显示直肠壁有一个4.5×3.7厘米的肿块，与子宫壁严重粘连。显微镜下，中分化腺腺癌弥漫性累及整个肠壁各层。在与直肠粘连的子宫体中发现了子宫腺肌病。病例2，一名38岁的育龄女性患者，出现便血症状。切除肿瘤的组织病理学检查显示，良性子宫内膜异位症病灶与浸润肠壁的子宫内膜样癌相邻的非典型增生腺体，未发现其他原发肿瘤部位，符合直肠子宫内膜异位症恶变的诊断标准。对这两个肿瘤进行免疫组织化学（IHC）染色显示为苗勒氏起源而非肠起源。此外，二代测序检测到（c.329dup）、（c.35G>T）、（c.3140A>G）和（c.750_751del）基因的突变，病例1的微卫星不稳定性较高。总之，子宫内膜异位症相关的直肠腺癌是一种罕见的恶性肿瘤，为了获得最佳治疗效果，应与结直肠癌相鉴别。手术及IHC染色病理检查，甚至分子分析，对最终诊断至关重要。只要有可能，应进行原发灶减瘤手术，切除所有肉眼可见的病灶。需要更多前瞻性、多中心、大规模试验来研究辅助化疗或放疗的方案及治疗价值。
