Thyroid Carcinoma With NSD3::NUTM1 Fusion and Secondary TERT Promoter Mutation: A Case Report and Literature Review

IF 0.9 4区医学 Q4 PATHOLOGY

International Journal of Surgical Pathology Pub Date : 2024-09-17 DOI:10.1177/10668969241271966

Ye Yoon Suh, Yoon Jung Hwang, Jung Mo Bae, Jiwon Koh, Jae Kyung Won, Sheehyun Kim, Sungyoung Lee, Hong Seok Yun, Su-jin Kim, Young Joo Park, Kyung Cheon Jung

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引用次数: 0

Abstract

Nuclear protein in testis (NUT) carcinoma is a rare but highly aggressive tumor characterized by translocation of the NUTM1 gene. To date, only about 20 NUT carcinomas arising from the thyroid have been reported in the literature, with the majority showing immunohistochemical markers indicative of squamous differentiation. We present a 29-year-old man with NUT carcinoma arising from thyroid follicular cells. Notably, the tumor cells expressed markers characteristic of thyroid follicular cells such as thyroglobulin, TTF1 and PAX8, without obvious histological and immunohistochemical features of squamous differentiation. Molecular analysis revealed a concurrent TERT promoter mutation (C228T) together with the NSD3::NUTM1 fusion, a combination not previously documented in NUT carcinoma. The tumor highlights the need to include NUT carcinoma in the differential diagnosis of thyroid cancer, especially when it presents with unconventional histopathological features, even in the absence of signs of squamous differentiation.

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伴有 NSD3::NUTM1 融合和继发性 TERT 启动子突变的甲状腺癌：病例报告和文献综述

睾丸核蛋白癌（NUT）是一种罕见但极具侵袭性的肿瘤，其特点是NUTM1基因易位。迄今为止，文献中仅报道了约20例由甲状腺引起的NUT癌，其中大多数显示出鳞状分化的免疫组化标记。我们为您介绍一名甲状腺滤泡细胞NUT癌的29岁男性患者。值得注意的是，肿瘤细胞表达甲状腺球蛋白、TTF1和PAX8等甲状腺滤泡细胞特征性标记物，但无明显的鳞状分化组织学和免疫组化特征。分子分析显示，该肿瘤同时存在TERT启动子突变（C228T）和NSD3::NUTM1融合，这种组合以前在NUT癌中未见记载。该肿瘤强调了将NUT癌纳入甲状腺癌鉴别诊断的必要性，尤其是当它表现出非常规的组织病理学特征，甚至没有鳞状分化迹象时。

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

International Journal of Surgical Pathology 医学-病理学

CiteScore

2.10

自引率

0.00%

发文量

198

审稿时长

1 months

期刊介绍： International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).