Papillary thyroid carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma: When to suspect and how to diagnose

IF 0.5 Q4 Medicine

Revista Espanola de Patologia Pub Date : 2025-04-19 DOI:10.1016/j.patol.2025.100819

Judith González-López, Luis Rubio-Martínez, Carlos Zac-Romero, Mireya Prieto-Rodríguez, Nuria Mancheño-Franch

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Abstract

Currently, it is known that more than 60% of adults have one or more thyroid nodules, of which less than 5% are malignant. Among them, papillary thyroid carcinoma (PTC) is the most common thyroid malignancy, accounting for 90% of all thyroid carcinomas. The World Health Organization (WHO) 5th edition endocrine tumours classification includes several PTC subtypes. Of these, PTC with fibromatosis/fasciitis-like/desmoid-type stroma stands out not only for being one of the least frequent subtypes but also for its characteristic histology (biphasic structure) and genetic pattern, which presents mutations in both BRAF and CTNNB1. Despite these distinctive features, it remains a challenging neoplasm to suspect and easy to misdiagnose, primarily due to its radiological imaging and cytological findings. In this study, we report a classic case, review the literature, discuss when suspicion should arise, and provide a practical diagnostic guide.

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甲状腺乳头状癌合并纤维瘤病/筋膜炎样/硬纤维瘤样间质：何时怀疑及如何诊断

目前，已知超过60%的成年人有一个或多个甲状腺结节，其中不到5%是恶性的。其中，甲状腺乳头状癌（PTC）是最常见的甲状腺恶性肿瘤，占所有甲状腺癌的90%。世界卫生组织（WHO）第5版内分泌肿瘤分类包括几种PTC亚型。其中，伴有纤维瘤病/筋膜炎样/硬纤维瘤样间质的PTC不仅是最不常见的亚型之一，而且其特有的组织学（双相结构）和遗传模式也很突出，在BRAF和CTNNB1中都存在突变。尽管有这些独特的特征，它仍然是一种难以怀疑和容易误诊的肿瘤，主要是由于其放射学成像和细胞学发现。在本研究中，我们报告一个经典病例，回顾文献，讨论何时应该怀疑，并提供实用的诊断指南。

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