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非侵入性卵泡甲状腺新生体与乳头状核特征和CREB3L2::PPARγ融合

Christopher J Dennis¹, Prokopios P Argyris¹, Nicole A Cipriani²

¹Department of Pathology, The University of Chicago Medicine, 5841 S. Maryland Avenue, MC 6101, Chicago, IL, 60637, USA.

Head and neck pathology

|August 21, 2025

概括

这项研究详细介绍了与CREB3L2:: PPARγ融合相关的非侵袭性卵泡甲状腺瘤 (NIFTP) 的罕见病例. 这一发现强调了分子测试在甲状腺结节诊断和风险分层方面的重要性.

科学领域:

内分泌学
外科病理学
分子诊断

背景情况:

甲状腺结节很常见,准确的诊断对于患者的治疗至关重要.
区分恶性和良性甲状腺瘤,特别是卵泡模式病变,仍然是一个诊断挑战.
分子标记越来越多地被用于提升甲状腺癌风险分层.

研究的目的:

报告一种罕见的带有CREB3L2::PPARγ融合的卵泡甲状腺新生体 (NIFTP).
在这个独特的案例中对临床,放射学,细胞学,组织学和分子发现进行关联.
讨论这种罕见的融合对NIFTP诊断和预后的影响.

主要方法:

一位58岁的女性患有甲状腺结节的病例.
超声波和精细针吸收 (FNA) 活检进行初步评估.
细胞病理学分析和ThyroSeq分子检测.
手术切除 (左甲状腺切除) 和详细的组织病理学检查.
针对BRAF V600E和泛素进行免疫组织化学染色.

主要成果:

细胞检测显示可疑的乳头甲状腺癌;分子检测显示CREB3L2::PPARγ融合.
组织病理学证实完全封装的微毛囊结与NIFTP一致, 缺乏入侵.
BRAF V600E突变是负的;内核伪包含是无处不在的负.
在NIFTP中存在罕见的CREB3L2::PPARγ融合,这表明恶性瘤的风险很高.

结论:

这种情况代表了与CREB3L2::PPARγ融合相关的罕见NIFTP实例.
在NIFTP中出现这种融合突显了甲状腺瘤分类的复杂性.
对甲状腺结节进行全面的临床病理和分子评估对于准确的诊断和风险评估至关重要.

关键词:

时间表:皮囊甲状腺瘤内核细胞质伪含体在 NIFTP 类似RAS的突变乌比基

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