THYROID AND PARATHYROID DISEASES: DIAGNOSIS, TREATMENT AND SURGERY WITH CURRENT APPROACHES

thyroid_and_parathyroid_diseasesnevinsakoglukapak1-0-25

GENETIC AND MOLECULAR DIAGNOSTIC METHODS IN THYROID DISEASES

Atıf Tekin

İstanbul Medipol University, Faculty of Medicine, Department of General Surgery, İstanbul, Türkiye

Tekin A. Genetic and Molecular Diagnostic Methods in Thyroid Diseases. Kesici U, ed. Thyroid and Parathyroid Diseases: Diagnosis, Treatment and Surgery with Current Approaches. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.163-173.

ABSTRACT

Thyroid nodules are frequently encountered, and assessing their significance can be challenging, often requiring a combination of blood tests, imaging studies, and, in some instances, tissue examination. Fine-needle aspiration biopsy is the standard approach for evaluating nodules suspected of malignancy. However, in a substantial proportion of cases (up to 30%), the results are inconclusive, necessitating further investigation.

Recent advancements in molecular testing have demonstrated significant value in both diagnosing and predicting the course of thyroid cancer. Consequently, molecular analysis has become an integral com- ponent of thyroid cancer management in numerous countries, including the United States.

Following the publication of The Cancer Genome Atlas (TCGA) research on the molecular character- istics of papillary thyroid carcinoma (PTC), which substantially reduced the proportion of “indetermi- nate” PTC cases, efforts have focused on clarifying the remaining cases that do not neatly fit into the BRAFV600E-like or RAS-like categories identified by TCGA.

Over the past decade, commercially available molecular testing platforms have undergone significant refinement as our knowledge has expanded. These platforms now encompass a broad spectrum of genetic alterations associated with thyroid cancers. Molecular reports typically include comprehensive information about the specific nodule evaluated, such as its size and cytological classification (Bethes- da category). This comprehensive information facilitates effective communication between patholo- gists and clinicians regarding nodule management.

In cases of advanced or recurrent thyroid cancer, molecular testing often plays a pivotal role in guiding personalized treatment strategies. This review examines the evolution of integrated molecular testing in thyroid nodules, emphasizing how our understanding of tumor genetics, in conjunction with histo- pathological findings, is driving the development of more precise and effective patient management approaches, particularly in the context of emerging targeted therapies.

Keywords: Thyroid nodules; Molecular testing; BRAFV600E; RAS

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