Gao Yingzheng, Ding Jinwang, Xu Jingjing, Chen Jiahao, Du Weidong
Department of Thyroid Surgery, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Traditional Chinese Medicine), Hangzhou, Zhejiang, China.
Department of Thyroid Surgery, Zhejiang Cancer Hospital, Hangzhou, Zhejiang, China.
J Int Med Res. 2025 Apr;53(4):3000605251326789. doi: 10.1177/03000605251326789. Epub 2025 Apr 2.
Cribriform morular thyroid carcinoma is a rare thyroid malignancy with uncertain histogenesis. It predominantly affects young women and is strongly associated with familial adenomatous polyposis. This paper reports a rare case of sporadic cribriform morular thyroid carcinoma in a female patient in her early 50s, with somatic genetic testing revealing a mutation. She presented with a solitary lesion confined to the right thyroid lobe and had no family history of familial adenomatous polyposis. Colonoscopy and germline genetic testing revealed no abnormalities. This finding suggests a potential link between mutations and sporadic cribriform morular thyroid carcinoma. The clinical and imaging manifestations of this malignancy lack specificity, and the final diagnosis depends on routine pathological examination and immunohistochemical analysis. This report indicates the need for the clinical investigation of family history and genetic testing, thus contributing to the clinical realization of standardized follow-up monitoring and management.
筛状桑葚状甲状腺癌是一种组织发生不明的罕见甲状腺恶性肿瘤。它主要影响年轻女性，且与家族性腺瘤性息肉病密切相关。本文报告了一例罕见的散发性筛状桑葚状甲状腺癌病例，患者为一名50岁出头的女性，体细胞基因检测发现了一种突变。她表现为局限于右甲状腺叶的孤立性病变，且无家族性腺瘤性息肉病家族史。结肠镜检查和种系基因检测未发现异常。这一发现提示了该突变与散发性筛状桑葚状甲状腺癌之间的潜在联系。这种恶性肿瘤的临床和影像学表现缺乏特异性，最终诊断依赖于常规病理检查和免疫组化分析。本报告表明需要对家族史进行临床调查和基因检测，从而有助于临床实现标准化的随访监测和管理。
