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在手术前诊断CribriformMorular甲状腺癌的困难

Li-Hsin Pan¹, Jen-Fan Hang^2,3, Jui-Yu Chen^2,4,5

¹Section of Endocrinology and Metabolism, Department of Medicine, Taipei City Hospital Zhongxing Branch, Taipei, Taiwan.

Case reports in endocrinology

|June 5, 2024

概括

一种罕见的瘤Cribriform morular thyroid carcinoma可以在初始细胞学上模仿乳头状甲状腺癌 (PTC). 基因检测对于准确诊断至关重要,它与常见的甲状腺癌区分开来.

科学领域:

内分泌学在内分泌学.
在瘤学瘤学.
病理学病理学病理学

背景情况:

现在,cribriform morular thyroid carcinoma (CMTC) 被归类为具有不确定的组织生成的甲状腺瘤.
独特的流行病学,病理学和病理生理学特征使CMTC与乳头甲状腺癌 (PTC) 有区别.
手术前基因检测有助于对甲状腺新生体的差异诊断.

研究的目的:

为了呈现一种已确认的CMTC.病例.
突出诊断挑战和综合诊断方法的重要性.
强调基因分析和免疫组织化学在区分CMTC和PTC方面的有用性.

主要方法:

一个31岁的女性患有甲状腺结节的病例报告.
细针吸收 (FNA) 细胞学最初暗示PTC.
对常见的甲状腺癌突变和融合进行全面的遗传分析.
组织病理学检查和免疫组织化学染色 (β-catenin,TTF-1,PAX8,甲状腺蛋白,BRAF).

主要成果:

FNA细胞学显示了 papillary 结构,导致了初步的 PTC 诊断.
遗传分析没有发现典型的突变 (BRAF,NRAS,HRAS) 或融合 (RET,PAX8-PPARG,NTRK等). 与毛囊细胞衍生的瘤相关.
甲状腺切除术后的组织病理学证实CMTC具有cribriform模式和morular区域.
免疫组织化学检测显示β-catenin和TTF-1的阳性 (除了状区域),对PAX8和thyroglobulin的阴性.

结论:

在细胞学上,CMTC可能与PTC相似,因此需要先进的诊断工具.
缺少常见的卵泡衍生突变,β-catenin和TTF-1 (具有特定模式) 的存在,以及缺少甲状腺球蛋白是关键的区分特征.
结合细胞学,遗传学和免疫组织化学的综合诊断方法对于准确的CMTC诊断至关重要.

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