Jacob Abeer, Patel Hiren J, Andani Sameer, Jiang Xiaoyin Sara
Pathology, Trinity Medical Sciences University School of Medicine, Roswell, USA.
Internal Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Cureus. 2025 Jun 9;17(6):e85602. doi: 10.7759/cureus.85602. eCollection 2025 Jun.
Papillary thyroid carcinoma (PTC) is the most common malignant thyroid tumor, with several histologic subtypes, including the follicular subtype (follicular variant of papillary thyroid carcinoma (FVPTC)). While mutations are frequently associated with PTC, alternative molecular alterations have been identified, particularly following radiation. Here, we present a case of FVPTC in a 43-year-old female with a history of childhood nuclear radiation exposure from the Chernobyl disaster. Although radiation exposure is a known risk factor for thyroid malignancies, the molecular features of such cases remain an area of ongoing study. Sequencing of this patient's tumor revealed a fusion, a rare genetic alteration that has been reported in only isolated cases of thyroid carcinoma. fusions are not well characterized in thyroid tumors, especially in the context of radiation exposure. This case contributes to the limited literature on kinase fusion-driven thyroid carcinomas, particularly those with follicular architecture arising after radiation exposure. Recognizing such rare genetic findings may help refine our understanding of the molecular diversity seen in radiation-associated thyroid cancers.
乳头状甲状腺癌（PTC）是最常见的甲状腺恶性肿瘤，有多种组织学亚型，包括滤泡亚型（乳头状甲状腺癌滤泡变体（FVPTC））。虽然基因突变常与PTC相关，但也发现了其他分子改变，尤其是在辐射后。在此，我们报告一例43岁女性的FVPTC病例，该女性有童年时期因切尔诺贝利灾难而遭受核辐射的病史。虽然辐射暴露是甲状腺恶性肿瘤的已知危险因素，但此类病例的分子特征仍是一个正在研究的领域。对该患者肿瘤的测序揭示了一种 融合，这是一种罕见的基因改变，仅在孤立的甲状腺癌病例中报道过。 融合在甲状腺肿瘤中尚未得到充分表征，尤其是在辐射暴露的背景下。该病例为关于激酶融合驱动的甲状腺癌的有限文献做出了贡献，特别是那些在辐射暴露后出现的具有滤泡结构的甲状腺癌。认识到这种罕见的基因发现可能有助于完善我们对辐射相关甲状腺癌中所见分子多样性的理解。
