研究动态
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TERT 启动子突变的甲状腺嗜酸细胞癌表现为老年人窒息:病例报告。

Oncocytic cell carcinoma of the thyroid with TERT promoter mutation presenting as asphyxia in an elderly: a case report.

发表日期:2024
作者: Xiqian Wang, Yingao Liu, Lijie Chen, Jie Zhang, Ruoyu Jiang, Lei Zhang, Han Yan, Jie Zhang
来源: Frontiers in Endocrinology

摘要:

老年人甲状腺结节和恶性肿瘤的患病率日益引起人们的关注。该人群的甲状腺结节具有独特的特征,需要谨慎的治疗策略来平衡风险和收益。甲状腺嗜酸细胞癌 (OCA) 是一种罕见的侵袭性亚型,诊断具有挑战性。该病例为一名 84 岁患者,出现颈部肿块和窒息症状。进行临床评估、影像学研究和活检来评估甲状腺病变的性质。进行了包括遗传分析在内的分子检测,以确定与 OCA 相关的特定突变并指导治疗决策。该患者被诊断患有甲状腺嗜酸细胞癌。分子检测显示出 OCA 的特定基因突变,从而证实了诊断。这些突变的存在指导了治疗计划,强调了分子诊断在治疗甲状腺恶性肿瘤(尤其是老年人)中的重要性。该病例说明了诊断和治疗老年人甲状腺恶性肿瘤的复杂性。活检和分子检测提供了诊断准确性和知情治疗。个体化方法对于取得更好的结果至关重要,尤其是在攻击性亚型中,平衡干预的风险和收益。版权所有 © 2024 Wang、Liu、Chen、Zhang、Jiang、Zhang、Yan 和Zhang。
The prevalence of thyroid nodules and malignancies in the elderly is a growing concern. Thyroid nodules in this population have unique characteristics, requiring careful treatment strategies that balance risks and benefits. Oncocytic carcinoma of the thyroid (OCA) is a rare, aggressive subtype with diagnostic challenges.This case features an 84-year-old patient who presented with a neck mass and symptoms of asphyxia. Clinical evaluation, imaging studies, and biopsy were conducted to assess the nature of the thyroid lesion. Molecular testing, including genetic analysis, was performed to identify specific mutations associated with OCA and guide treatment decisions.The patient was diagnosed with oncocytic carcinoma of the thyroid. The molecular testing revealed specific genetic mutations indicative of OCA, confirming the diagnosis. The presence of these mutations guided the treatment plan, emphasizing the importance of molecular diagnostics in managing thyroid malignancies, especially in the elderly.This case illustrates the complexities of diagnosing and treating thyroid malignancies in the elderly. Biopsy and molecular testing provided diagnostic accuracy and informed treatment. Individualized approaches are essential for better outcomes, especially in aggressive subtypes, balancing the risks and benefits of intervention.Copyright © 2024 Wang, Liu, Chen, Zhang, Jiang, Zhang, Yan and Zhang.