Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma

Papillary thyroid carcinoma (PTC), the most common thyroid cancer, is predominantly driven by mutations in <i>BRAF</i> (primarily p. <i>V600E</i>) and <i>RAS</i> oncogenes. Ultrasound (US) examination provides significant diagnostic data in the management of thyro...

Full description

Bibliographic Details
Main Authors: Andrzej Lewiński, Zbigniew Adamczewski, Arkadiusz Zygmunt, Leszek Markuszewski, Małgorzata Karbownik-Lewińska, Magdalena Stasiak
Format: Article
Language:English
Published: MDPI AG 2019-11-01
Series:Journal of Clinical Medicine
Subjects:
Online Access:https://www.mdpi.com/2077-0383/8/11/1916
Description
Summary:Papillary thyroid carcinoma (PTC), the most common thyroid cancer, is predominantly driven by mutations in <i>BRAF</i> (primarily p. <i>V600E</i>) and <i>RAS</i> oncogenes. Ultrasound (US) examination provides significant diagnostic data in the management of thyroid nodules, as many sonographic features of thyroid lesions are correlated with the potential risk of thyroid carcinoma. The aim of the study was to analyze the current literature in regard to the potential associations between genetic landscape and sonographic features of PTC. Based on the current literature, sonographic features of PTCs correlate with their molecular drivers, particularly between tumors harboring <i>BRAF<sup>V600E</sup></i> versus activating <i>RAS</i> mutations, although many of these findings appear to be dependent on the tumor variant. Suspicious US findings, such as hypoechogenicity, spiculated/microlobulated margins, non-parallel orientation/taller-than-wide shape, and the presence of microcalcifications, are typical for PTC positive for <i>BRAF<sup>V600E</sup></i> mutations. On the contrary, tumors with <i>RAS</i> mutations are most frequently hypo- or isoechoic and ovoid-to-round in shape, with smooth margins and without calcifications. There are also some US features typical for PTCs harboring other mutations, including <i>BRAF<sup>K601E</sup></i>, <i>RET/PTC</i> rearrangements, <i>PAX8-PPAR&#947;</i>, <i>CTNNB1</i>, and <i>APC</i>. However, further research is necessary, as some rare PTC variants still cannot be reliably analyzed due to the scarce published data.
ISSN:2077-0383