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在 Thyroseq 检测中,“拷贝数改变”作为唯一的分子发现更常见于 Hurthle 细胞肿瘤中。

"Copy number alteration" as the sole molecular finding of a Thyroseq test is more commonly seen in Hurthle cell neoplasms.

机构信息

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

出版信息

Diagn Cytopathol. 2023 Nov;51(11):705-711. doi: 10.1002/dc.25205. Epub 2023 Aug 2.

DOI:10.1002/dc.25205
PMID:37533334
Abstract

BACKGROUND

To better understand the molecular alterations associated with Hurthle cell lesions of the thyroid, we retrospectively reviewed the association of clonal DNA copy number alterations (CNAs) with fine needle aspiration (FNA) cytomorphology and surgical follow-up.

METHODS

Hurthle cell type (HCT) and non-Hurthle cell type (NHCT) thyroid FNAs that were classified according to the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) as atypia of undetermined significance (AUS) and suspicious for a follicular neoplasm (SFN) with corresponding molecular testing performed by ThyroSeq v3 genomic classifier were compared to surgical follow-up.

RESULTS

A total of 54 thyroid FNA cases were identified, distributed among the following categories: AUS-HCT (n = 15, 27.8%), SFN-HCT (n = 11, 20.4%), AUS-NHCT (n = 19, 35.2%), and SFN-NHCT (n = 9, 16.6%). The lesions classified as AUS-HCT and SFN-HCT showed a higher prevalence of CNAs (n = 10/26; 38.5%) compared to their NHCT counterparts (n = 3/28; 10.7%) (p < .03). Of the 42 patients (77.8%) with surgical follow-up, CNAs were more often seen in benign (n = 10/26, 38.5%) than malignant conditions (n = 1/16, 6.3%) (p < .03). CNAs were encountered in more lesions with Hurthle cell features on histologic examination (n = 8/14, 57.1%) than those without (n = 3/28, 10.7%) (p < .002). The presence of CNAs alone was seen only in benign adenomas and more commonly with Hurthle cell features (n = 5/7, 71.4%).

CONCLUSION

In this study, CNAs were associated with Hurthle cell morphology on thyroid FNA and benign adenomas upon surgical follow-up. Therefore, if the only finding of a positive ThyroSeq v3 GC result is a CNA, conservative management can be considered if clinically indicated.

摘要

背景

为了更好地了解甲状腺 Hurthle 细胞病变相关的分子改变,我们回顾性地研究了克隆性 DNA 拷贝数改变 (CNA) 与细针抽吸 (FNA) 细胞学形态和手术随访的关系。

方法

根据甲状腺细胞病理学报告的 Bethesda 系统 (TBSRTC) ,将 Hurthle 细胞类型 (HCT) 和非 Hurthle 细胞类型 (NHCT) 的甲状腺 FNA 分为意义不明的不典型性 (AUS) 和滤泡性肿瘤可疑 (SFN) ,并对相应的分子检测进行了 ThyroSeq v3 基因组分类器检测,与手术随访进行了比较。

结果

共发现 54 例甲状腺 FNA 病例,分布如下:AUS-HCT(n=15,27.8%)、SFN-HCT(n=11,20.4%)、AUS-NHCT(n=19,35.2%)和 SFN-NHCT(n=9,16.6%)。AUS-HCT 和 SFN-HCT 分类的病变中 CNA 的发生率更高(n=10/26;38.5%),与 NHCT 相比(n=3/28;10.7%)(p<.03)。在 42 例有手术随访的患者中(n=42,77.8%),良性病变中 CNA 更为常见(n=10/26,38.5%),恶性病变中 CNA 更为罕见(n=1/16,6.3%)(p<.03)。在组织学检查中具有 Hurthle 细胞特征的病变中(n=8/14,57.1%),CNA 的发生率高于不具有 Hurthle 细胞特征的病变(n=3/28,10.7%)(p<.002)。CNA 仅见于良性腺瘤,且更常见于具有 Hurthle 细胞特征的病变(n=5/7,71.4%)。

结论

在本研究中,FNA 上的 Hurthle 细胞形态和手术随访的良性腺瘤均与 CNA 相关。因此,如果 ThyroSeq v3 GC 结果仅为 CNA 阳性,在临床需要时可以考虑保守治疗。

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