METHODS: The pathology archives at our institution were reviewed between 2018 and 2021 for indeterminate (Bethesda category III and IV) specimens with Thyroseq® analysis showing TSHR mutations.
RESULTS: A total of 2184 cases diagnosed as atypia/follicular lesion of undetermined significance (AUS/FLUS), and 2625 diagnosed as follicular neoplasm/suspicious for follicular neoplasm (FN/SFN) were identified. A total of 1735 AUS/FLUS and 2339 SFN/FN underwent Thyroseq® analysis; 69 showed TSHR mutations (1.6%, 59 female, 10 male, average age: 55 years). Ten cases showed oncocytic features. Twelve patients underwent radionuclide scans within 1 year of FNA:11 were hyperfunctioning. Nodule size and TSH levels were weakly correlated. Twenty-two different TSHR mutations were identified (most common: M453T). A second mutation was found in five cases (EZH1 n = 2, and EIF1AX n = 3). The expression of sodium-iodide transporter (NIS) mRNA was in the range of 0.01%-62.43% out of all sequencing reads, and was elevated in 49 (71%) cases. Surgical pathology follow-up was available in five cases (all benign except one). On follow-up available for 38 cases (mean: 24 months; range: 7-47 months), 34 (89.5%) nodules remained stable and 3 (8%) increased in size.
CONCLUSIONS: TSHR mutations in thyroid FNA samples classified as indeterminate are rare, generally benign, and commonly associated with autonomy on scan if performed.
方法:我们机构的病理档案在2018年至2021年之间进行了审查,以使用Thyroseq®分析显示TSHR突变的不确定(BethesdaIII和IV类)标本。
结果:共2184例诊断为非典型性/意义不明的滤泡性病变(AUS/FLUS),2625例诊断为滤泡性肿瘤/可疑为滤泡性肿瘤(FN/SFN)。共有1735个AUS/FLUS和2339个SFN/FN接受了Thyroseq®分析;69个显示TSHR突变(1.6%,59女,10男,平均年龄:55岁)。10例表现为嗜酸细胞特征。在FNA的1年内,有12例患者接受了放射性核素扫描:11例功能亢进。结节大小与TSH水平弱相关。鉴定了22种不同的TSHR突变(最常见的:M453T)。在5例中发现了第二个突变(EZH1n=2,EIF1AXn=3)。在所有测序读数中,钠碘转运蛋白(NIS)mRNA的表达在0.01%-62.43%的范围内,49例(71%)升高。手术病理随访5例(除1例外,均为良性)。38例(平均:24个月;范围:7-47个月),34个(89.5%)结节保持稳定,3个(8%)结节大小增加。
结论:甲状腺FNA样本中被分类为不确定的TSHR突变很少见,通常是良性的,并且通常与扫描自主性(如果执行)相关联。