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甲状腺结节细针穿刺标本中检测到的THADA-IGF2BP3融合基因:一项机构经验。

THADA-IGF2BP3 fusions detected in fine-needle aspiration specimens of thyroid nodules: An institutional experience.

作者信息

Gubbiotti Maria A, Andrianus Stefen, Baloch Zubair

机构信息

Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

出版信息

Diagn Cytopathol. 2023 Jun;51(6):349-355. doi: 10.1002/dc.25113. Epub 2023 Feb 8.

Abstract

INTRODUCTION

Though the clinical significance of THADA-IGF2BP3 fusions detected in thyroid nodules preoperatively is still under investigation, the limited literature suggests these lesions are clinically low-risk.

METHODS

The pathology archives were searched from 2018 to 2022 for all thyroid nodules with a THADA-IGF2BP3 fusion detected via ThyroSeqV3® analysis. Patient demographics and tumor characteristics were collected. Statistical analyses were performed and p < .05 was considered statistically significant. This study was approved by the institutional review board.

RESULTS

The case cohort included 34 thyroid nodules with THADA-IGF2BP3 fusions from 32 patients (average age-56.1 years, range: 30-86, male to female ratio-10:22). The average nodule size was 3.2 cm (range: 1.3-7.3 cm). At the time of biopsy, 21 cases were diagnosed as atypia of undetermined significance/follicular lesion of undetermined significance, 12 as follicular neoplasm/suspicious for follicular neoplasm and 1 as suspicious for malignancy. Surgical resection was performed in 29 patients (13 partial and 16 total thyroidectomies) to give a total of 31 nodules. Papillary thyroid carcinoma was diagnosed in 19/31 (61%) cases. No cases showed extrathyroidal extension or lymphovascular invasion. The remaining cases were considered either a low-risk neoplasm or benign. Four cases of NIFTP on final surgical pathology harbored concurrent incidental papillary thyroid microcarcinoma. One patient had the THADA-IGF2BP3 fusion detected in bilateral nodules.

CONCLUSIONS

THADA-IGF2BP3 fusions can occur in malignant, low-risk and benign thyroid neoplasms, where malignant neoplasms show lack of aggressive features. Therefore, such entities can be classified as clinically low risk.

摘要

引言

虽然术前在甲状腺结节中检测到的THADA-IGF2BP3融合的临床意义仍在研究中,但有限的文献表明这些病变在临床上风险较低。

方法

检索2018年至2022年的病理档案,查找所有通过ThyroSeqV3®分析检测到THADA-IGF2BP3融合的甲状腺结节。收集患者人口统计学和肿瘤特征。进行统计分析,p < 0.05被认为具有统计学意义。本研究经机构审查委员会批准。

结果

病例队列包括来自32例患者的34个具有THADA-IGF2BP3融合的甲状腺结节(平均年龄56.1岁,范围:30 - 86岁,男女比例为10:22)。平均结节大小为3.2厘米(范围:1.3 - 7.3厘米)。活检时,21例被诊断为意义未明的非典型性/意义未明的滤泡性病变,12例为滤泡性肿瘤/可疑滤泡性肿瘤,1例可疑恶性。29例患者(13例部分甲状腺切除术和16例全甲状腺切除术)进行了手术切除,共切除31个结节。19/31(61%)例诊断为甲状腺乳头状癌。无病例显示甲状腺外侵犯或脉管侵犯。其余病例被认为是低风险肿瘤或良性肿瘤。最终手术病理中有4例NIFTP同时伴有偶然发现的甲状腺乳头状微小癌。1例患者双侧结节均检测到THADA-IGF2BP3融合。

结论

THADA-IGF2BP3融合可发生于恶性、低风险和良性甲状腺肿瘤,其中恶性肿瘤无侵袭性特征。因此,这些实体可归类为临床低风险。

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