Li Xiaoran, Zhang Xian, Cui Bixiao, Ma Jie, Wang Shijun, Lu Jie
Department of Radiology and Nuclear Medicine, Xuanwu Hospital, Capital Medical University, Beijing, China.
Beijing Key Laboratory of Magnetic Resonance Imaging and Brain Informatics, Capital Medical University, Beijing, China.
Front Oncol. 2023 Jan 25;12:1115056. doi: 10.3389/fonc.2022.1115056. eCollection 2022.
Lynch syndrome (LS) is associated with the early onset of carcinoma and the development of numerous types of carcinoma, particularly endometrial and colon carcinomas. LS-associated endometrial carcinoma (EC) has been widely noted by gynecologists. However, there is still a lack of a non-invasive and reliable tool for early screening for LS in patients with EC. There are a few reports of PET and MR images revealing EC associated with LS.
A 63-year-old female patient presented with postmenopausal intermittent vaginal bleeding. Transvaginal ultrasonography showed a small amount of bleeding in the uterine cavity and no thickening of the endometrium. The levels of relevant tumor markers were all within normal ranges. The endometrial cytology examination hint to possible endometrial adenocarcinoma. The hybrid 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/magnetic resonance (PET/MR) images showed a polypoid mass in the lower uterine segment and unexpectedly found a mass in the descending colon. A colonoscopy confirmed that there was a colon adenocarcinoma in the same place as the PET/MR images. Thus, LS was suspected even though this patient did not match the clinical diagnostic criteria. The gene analysis of both tumors was performed to identify microsatellite instability (MSI) for the diagnosis of Lynch syndrome. Postoperative adjuvant therapy and follow-up protocol customized for patients with Lynch syndrome.
This case highlights that hybrid 18F-FDG PET/MR imaging could play a key role in the screening for Lynch syndrome in EC patients.
林奇综合征(LS)与癌症的早发以及多种类型癌症的发生发展相关,尤其是子宫内膜癌和结肠癌。与LS相关的子宫内膜癌(EC)已受到妇科医生的广泛关注。然而,对于EC患者,仍缺乏一种用于早期筛查LS的非侵入性且可靠的工具。有少数关于PET和MR图像显示与LS相关的EC的报道。
一名63岁女性患者出现绝经后间歇性阴道出血。经阴道超声检查显示宫腔内有少量出血,子宫内膜未增厚。相关肿瘤标志物水平均在正常范围内。子宫内膜细胞学检查提示可能为子宫内膜腺癌。18F-氟脱氧葡萄糖(18F-FDG)正电子发射断层扫描/磁共振(PET/MR)融合图像显示子宫下段有一个息肉样肿物,且意外地在降结肠发现一个肿物。结肠镜检查证实PET/MR图像所示部位存在结肠腺癌。因此,尽管该患者不符合临床诊断标准,但仍怀疑为LS。对两个肿瘤进行基因分析以确定微卫星不稳定性(MSI),用于诊断林奇综合征。为林奇综合征患者定制了术后辅助治疗和随访方案。
该病例突出表明,18F-FDG PET/MR融合成像在EC患者林奇综合征的筛查中可发挥关键作用。