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

IF 2.3 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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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.