KMT2C mutation in sporadic cribriform morular thyroid carcinoma: A rare case report and review of literature.

IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-02 DOI:10.1177/03000605251326789
Yingzheng Gao, Jinwang Ding, Jingjing Xu, Jiahao Chen, Weidong Du
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引用次数: 0

Abstract

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 KMT2C 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 KMT2C 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.

散发性筛状甲状腺样癌中KMT2C突变:一例罕见病例报告及文献复习。
筛状morular甲状腺癌是一种罕见的甲状腺恶性肿瘤,其组织发生不确定。它主要影响年轻女性,并与家族性腺瘤性息肉病密切相关。本文报告一例罕见的散发性筛状甲状腺样癌,患者为50岁出头的女性,体细胞基因检测显示KMT2C突变。她表现为局限于右甲状腺叶的单发病变,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KMT2C突变与散发性筛状甲状腺样癌之间存在潜在联系。该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织化学分析。本报告提示有必要开展家族史和基因检测的临床调查,有助于临床实现规范化的随访监测和管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.20
自引率
0.00%
发文量
555
审稿时长
1 months
期刊介绍: _Journal of International Medical Research_ is a leading international journal for rapid publication of original medical, pre-clinical and clinical research, reviews, preliminary and pilot studies on a page charge basis. As a service to authors, every article accepted by peer review will be given a full technical edit to make papers as accessible and readable to the international medical community as rapidly as possible. Once the technical edit queries have been answered to the satisfaction of the journal, the paper will be published and made available freely to everyone under a creative commons licence. Symposium proceedings, summaries of presentations or collections of medical, pre-clinical or clinical data on a specific topic are welcome for publication as supplements. Print ISSN: 0300-0605
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