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Molecular alterations in Hürthle cell nodules and preoperative cancer risk.
Endocrine-Related Cancer ( IF 3.9 ) Pub Date : 2021-04-27 , DOI: 10.1530/erc-20-0435
William R Doerfler 1 , Alyaksandr V Nikitski 2 , Elena M Morariu 1 , N Paul Ohori 2 , Simion I Chiosea 2 , Michael S Landau 2 , Marina N Nikiforova 2 , Yuri E Nikiforov 2 , Linwah Yip 3 , Pooja Manroa 1, 4
Affiliation  

Hürthle cell carcinoma (HCC) is a distinct type of thyroid cancer genetically characterized by DNA copy number alterations (CNA), typically of genome haploidization type (GH-type). However, whether CNA also occurs in benign Hürthle cell adenomas (HCA) or Hürthle cell hyperplastic nodules (HCHN), and have diagnostic impact in fine-needle aspiration (FNA) samples, remains unknown. To address these questions, we (1) analyzed 26 HCC, 24 HCA, and 8 HCHN tissues for CNA and other mutations using ThyroSeq v3 (TSv3) next-generation sequencing panel, and (2) determined cancer rate in 111 FNA samples with CNA and known surgical outcome. We identified CNA, more often of the GH-type, in 81% of HCC and in 38% HCA, but not in HCHN. Among four HCC with distant metastasis, all had CNA and three TERT mutations. Overall, positive TSv3 results were obtained in 24 (92%) HCC, including all with ATA high risk of recurrence or metastasis. Among 111 FNA cases with CNA, 38 (34%) were malignant and 73 (66%) benign. A significant correlation between cancer rate and nodule size was observed, particularly among cases with GH-type CNA, where every additional centimeter of nodule size increased the malignancy odds by 1.9 (95% CI 1.3-2.7; P = 0.001). In summary, the results of this study demonstrate that CNA characteristic of HCC also occur in HCA, although with lower frequency, and probability of cancer in nodules with CNA increases with nodule size. Detection of CNA, in conjunction with other mutations and nodule size, is helpful in predicting malignancy in thyroid nodules.

中文翻译:

Hürthle细胞结节中的分子变化和术前癌症风险。

Hürthle细胞癌(HCC)是一种甲状腺癌的独特类型,其遗传特征是DNA拷贝数改变(CNA),通常是基因组单倍体型(GH-type)。但是,CNA是否也出现在良性Hürthle细胞腺瘤(HCA)或Hürthle细胞增生性结节(HCHN)中,并在细针抽吸(FNA)样品中具有诊断影响,目前尚不清楚。为解决这些问题,我们(1)使用ThyroSeq v3(TSv3)下一代测序专家组分析了26个HCC,24个HCA和8个HCHN组织的CNA和其他突变,以及(2)确定了111个含有CNA的FNA样品中的癌症发生率和已知的手术结果。我们在81%的HCC和38%的HCA中发现了CNA(更常见的是GH型),但在HCHN中却没有。在四个具有远处转移的肝癌中,均具有CNA和三个TERT突变。全面的,在24例(92%)HCC中获得了TSv3阳性结果,包括所有具有ATA高复发或转移风险的HCC。在111例具有CNA的FNA病例中,有38例(34%)为恶性,而73例(66%)为良性。观察到癌症发生率与结节大小之间存在显着相关性,尤其是在GH型CNA病例中,每增加一厘米的结节大小,恶性几率就会增加1.9(95%CI 1.3-2.7; P = 0.001)。总而言之,这项研究的结果表明,尽管频率较低,但HCA中也存在HCC的CNA特征,并且随着结节大小的增加,具有CNA的结节患癌的可能性也会增加。CNA的检测以及其他突变和结节大小,有助于预测甲状腺结节的恶性肿瘤。38例(34%)为恶性,73例(66%)为良性。观察到癌症发生率与结节大小之间存在显着相关性,尤其是在GH型CNA病例中,每增加一厘米的结节大小,恶性几率就会增加1.9(95%CI 1.3-2.7; P = 0.001)。总而言之,这项研究的结果表明,尽管频率较低,但HCA中也存在HCC的CNA特征,并且随着结节大小的增加,具有CNA的结节患癌的可能性也会增加。CNA的检测以及其他突变和结节大小,有助于预测甲状腺结节的恶性肿瘤。38例(34%)为恶性,73例(66%)为良性。观察到癌症发生率与结节大小之间存在显着相关性,尤其是在GH型CNA病例中,每增加一厘米的结节大小,恶性几率就会增加1.9(95%CI 1.3-2.7; P = 0.001)。总而言之,这项研究的结果表明,尽管频率较低,但HCA中也存在HCC的CNA特征,并且随着结节大小的增加,具有CNA的结节患癌的可能性也会增加。CNA的检测以及其他突变和结节大小,有助于预测甲状腺结节的恶性肿瘤。9(95%CI 1.3-2.7; P = 0.001)。总而言之,这项研究的结果表明,尽管频率较低,但HCA中也存在HCC的CNA特征,并且随着结节大小的增加,具有CNA的结节患癌的可能性也会增加。CNA的检测以及其他突变和结节大小,有助于预测甲状腺结节的恶性肿瘤。9(95%CI 1.3-2.7; P = 0.001)。总而言之,这项研究的结果表明,尽管频率较低,但HCA中也存在HCC的CNA特征,并且随着结节大小的增加,具有CNA的结节患癌的可能性也会增加。CNA的检测以及其他突变和结节大小,有助于预测甲状腺结节的恶性肿瘤。
更新日期:2021-04-27
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