Ohta Mamiko, Murakami Kosuke, Otani Tomoyuki, Sakai Kazuko, Nishio Kazuto, Matsumura Noriomi
Department of Obstetrics and Gynecology, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan.
Department of Pathology, Yachiyo Hospital, Anjo, Aichi, Japan.
J Obstet Gynaecol Res. 2025 Jul;51(7):e70003. doi: 10.1111/jog.70003.
Recent next-generation sequencing (NGS) studies have shown that synchronous endometrial and ovarian cancers (SEOCs) are often derived from the same clone. However, the clonal relationship in Lynch syndrome remains unclear. A 45-year-old woman was diagnosed with grade 2 endometrial endometrioid carcinoma and an ovarian yolk sac tumor with clear cell carcinoma. Genetic testing revealed different MLH1 variants in the endometrial and ovarian cancers, and peripheral blood analysis identified an exon 5 deletion in MLH1, confirming Lynch syndrome. The somatic variants in the tumors were distinct. A review of the literature found six cases of SEOC in Lynch syndrome with NGS-based clonal analysis, four of which (67%) showed independent cancers with different somatic profiles. These findings suggest that, unlike sporadic SEOC, synchronous cancers in Lynch syndrome are more likely to arise from separate clones.
近期的新一代测序（NGS）研究表明，同步性子宫内膜癌和卵巢癌（SEOC）通常源自同一克隆。然而，林奇综合征中的克隆关系仍不明确。一名45岁女性被诊断为2级子宫内膜样腺癌和伴有透明细胞癌的卵巢卵黄囊瘤。基因检测显示子宫内膜癌和卵巢癌中存在不同的MLH1变异，外周血分析确定MLH1外显子5缺失，证实为林奇综合征。肿瘤中的体细胞变异是不同的。文献综述发现6例林奇综合征中基于NGS克隆分析的SEOC病例，其中4例（67%）显示为具有不同体细胞特征的独立癌症。这些发现表明，与散发性SEOC不同，林奇综合征中的同步性癌症更有可能源自不同的克隆。
