Profile of V600E, K601E, , and Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital

Overview

Journal Appl Clin Genet

Publisher Dove Medical Press

Specialty Genetics

Date 2023 May 31

PMID 37255533

Authors

Agnes Stephanie Harahap

Imam Subekti

Sonar Soni Panigoro

Asmarinah

Lisnawati

Retno Asti Werdhani

Hasrayati Agustina

Dina Khoirunnisa

Mutiah Mutmainnah

Salinah

Alvita Dewi Siswoyo

Maria Francisca Ham

Affiliations

Soon will be listed here.

Abstract

Introduction: V600E and mutations are the most common gene mutations in papillary thyroid carcinoma (PTC) that may be correlated with its biological behavior. There are still limited data about V600E and mutations in Indonesia. This study aims to determine the prevalence of V600E and mutations, and their association with clinicopathologic characteristics.

Methods: Patients who had total thyroidectomy from 2019 to 2021 and those who met our study criteria underwent PCR and DNA sequencing analysis for V600E, K601E, exon 2 and 3 of , and . Analyses were performed to determine the associations of V600E and mutations with clinicopathologic characteristics.

Results: Of 172 PTC patients, V600E mutation was observed in 37.8% of the patients and mutations were found in 21.5%. One patient harbored K601E mutation. There was a significant association of V600E with a high-stage (p = 0.033, OR: 3.279; 95% CI: 1.048-10.259), tall-cell variants (p ≤0.001, OR: 41.143; 95% CI: 11.979-141.308), non-encapsulated (p = 0.001, OR: 4.176; 95% CI: 2.008-8.685), lymphovascular invasion (p = 0.043, OR: 1.912; 95% CI: 1.018-3.592), extrathyroidal extension (p = <0.001, OR: 3.983; 95% CI: 1.970-8.054), and lymph node metastasis (p = 0.009, OR: 2.301; 95% CI: 1.224-4.326). Follicular variant (p = 0.001, OR: 7.011; 95% CI: 2.690-18.268), encapsulated (p = 0.017, OR: 2.433; 95% CI: 1.161-5.100), and absent of extrathyroidal extension (p = 0.033, OR: 2.890; 95% CI: 1.052-7.940) were associated with mutations.

Conclusion: A significant association between V600E mutation and high clinical stage, tall-cell variants, non-encapsulated morphology, lymphovascular invasion, extrathyroidal extension, and lymph node metastasis in PTC was observed. mutations were associated with the follicular variant, encapsulated tumor, and no extrathyroidal extension. -mutated PTC frequently exhibited tumor multifocality.

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