Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis

IF 2.2 3区医学 Q1 OTORHINOLARYNGOLOGY

Head and Neck-Journal for the Sciences and Specialties of the Head and Neck Pub Date : 2025-03-08 DOI:10.1002/hed.28127

Lauren E. Schlegel, Madelaine Brill-Edwards, Zi-Xuan Wang, Christopher McNair, Stacey Gargano, Elizabeth Cottrill

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Abstract

Background

Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.

Methods

This 8-year retrospective study includes adults with indeterminate thyroid nodules positive for a PTEN mutation and available correlative surgical histopathology.

Results

Twenty-three patients with 24 total nodules met the inclusion criteria. The cytology specimens were characterized as Bethesda III (n = 19) and Bethesda IV (n = 5). Specific PTEN mutations detected are described in detail. Final histopathology included the following: benign (n = 18, 75.0%), papillary thyroid carcinoma (n = 3, 12.5%), follicular thyroid carcinoma (n = 2, 8.3%), and poorly differentiated thyroid carcinoma (n = 1, 4.2%).

Conclusions

Together, our data suggest that PTEN mutations in indeterminate thyroid nodules result in a 25.0% risk of malignancy (Bethesda III: 16.7% and Bethesda IV: 60%).

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不确定甲状腺结节细针穿刺活检中PTEN突变的检测：对诊断和预后的影响。

背景：由于PTEN突变的罕见性，将PTEN突变与不确定结节的甲状腺癌风险联系起来的数据仍然有限。本研究的目的是确定在细胞学上不确定的结节中发现的PTEN突变与最终病理和临床结果之间的关系。方法：这项为期8年的回顾性研究纳入了PTEN突变阳性的不确定甲状腺结节和相关手术组织病理学的成年人。结果：23例患者共24个结节符合纳入标准。细胞学标本为Bethesda III型（n = 19）和Bethesda IV型（n = 5）。详细描述了检测到的特定PTEN突变。最终组织病理学包括：良性（n = 18, 75.0%）、乳头状甲状腺癌（n = 3, 12.5%）、滤泡性甲状腺癌（n = 2, 8.3%）和低分化甲状腺癌（n = 1, 4.2%）。结论：总之，我们的数据表明，不确定甲状腺结节的PTEN突变导致25.0%的恶性肿瘤风险（Bethesda III: 16.7%, Bethesda IV: 60%）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Head and Neck-Journal for the Sciences and Specialties of the Head and Neck 医学-耳鼻喉科学

CiteScore

7.00

自引率

6.90%

发文量

278

审稿时长

1.6 months

期刊介绍： Head & Neck is an international multidisciplinary publication of original contributions concerning the diagnosis and management of diseases of the head and neck. This area involves the overlapping interests and expertise of several surgical and medical specialties, including general surgery, neurosurgery, otolaryngology, plastic surgery, oral surgery, dermatology, ophthalmology, pathology, radiotherapy, medical oncology, and the corresponding basic sciences.