Gubbiotti Maria A, Andrianus Stefen, Baloch Zubair
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Diagn Cytopathol. 2023 Jun;51(6):349-355. doi: 10.1002/dc.25113. Epub 2023 Feb 8.
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.
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.
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.
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.
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。
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。
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。
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。