Review Article
JBCGenetics. 2020; 3(2): 77-83

Molecular testing approaches in thyroid cancer diagnosis

Authors: Abdul-Mohsen Gaeth AlHejaily, Naji Jamil AlJohani.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1594975192

Abstract

Thyroid cancer (TC) is the most common endocrine malignancy worldwide, with an annual incidence of around 300,000 cases. In recent decades, the incidence of TC in many countries, including Saudi Arabia, has increased significantly. Genomics has allowed multiple mutations to be examined simultaneously across multiple genes, providing a detailed genomic profile for a given tumor. It is understood from a molecular perspective that different signaling pathways may have genetic abnormalities as the primary factors in thyroid tumorigenesis. While there is still early progress in the usage and standardization of targeted next-generation sequencing (NGS) in TC, a major ongoing study to distinguish malignant from benign thyroid nodules from fine-needle aspiration (FNA) has shown promising results that can prevent unnecessary surgery, based on NGS analyses of mutations and gene fusions associated with most TC. The differential diagnosis and malignancy risk stratification of TC require multidisciplinary skills and experience of both ultrasound and the FNA and molecular analysis. The most common TC mutations are point mutations in the BRAF and the chromosome rearrangements of RET/papillary TCs. The transition mechanisms tend to be linked to specific etiological features, which are very crucial while deciding the treatment protocol. On the other hand, FNA cytology has an intrinsic drawback. The findings of infinite cytology cannot differentiate some types of TC, such as follicular adenomas, thyroid follicular carcinomas, or papillary thyroid follicular. Nevertheless, accumulating evidence indicates that molecular diagnostic approaches can overcome these limitations. In this review, we present an updated summary, which focuses primarily on molecular alterations in the tumorigenesis and biomarker investigations of TC.

Keywords:   Thyroid cancer, molecular testing, gene panel, NGS, FNA, BRAF


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Molecular testing approaches in thyroid cancer diagnosis


Authors
Abdul-Mohsen Gaeth AlHejaily
Faculty of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia, Faculty of Applied Medical Science, Taibah University, Al Madinah Al Munawwarah, Saudi Arabia
PubMed articlesGoogle scholar articles

Naji Jamil AlJohani
Endocrine Center, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Abdul-Mohsen Gaeth AlHejaily (PhD), Faculty of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia; Faculty of Applied Medical Science, Taibah University, Al Madinah Al Munawwarah, Saudi Arabia.; aalhejaily@kfmc.med.sa

Publication history
Received 17 Jul 2020
Revised 16 Aug 2020
Accepted 05 Sep 2020
Published in print 30 Sep 2020

How to cite this article

Pubmed Style

AlHejaily AG, AlJohani NJ. Molecular testing approaches in thyroid cancer diagnosis. JBCGenetics. 2020; 3(2): 77-83. doi:10.24911/JBCGenetics/183-1594975192


Web Style

AlHejaily AG, AlJohani NJ. Molecular testing approaches in thyroid cancer diagnosis. https://www.jbcgenetics.com//?mno=103773 [Access: January 19, 2021]. doi:10.24911/JBCGenetics/183-1594975192


AMA (American Medical Association) Style

AlHejaily AG, AlJohani NJ. Molecular testing approaches in thyroid cancer diagnosis. JBCGenetics. 2020; 3(2): 77-83. doi:10.24911/JBCGenetics/183-1594975192


Vancouver/ICMJE Style

AlHejaily AG, AlJohani NJ. Molecular testing approaches in thyroid cancer diagnosis. JBCGenetics. (2020), [cited January 19, 2021]; 3(2): 77-83. doi:10.24911/JBCGenetics/183-1594975192


Harvard Style

AlHejaily, A. G. & AlJohani, . N. J. (2020) Molecular testing approaches in thyroid cancer diagnosis. JBCGenetics, 3 (2), 77-83. doi:10.24911/JBCGenetics/183-1594975192


Turabian Style

AlHejaily, Abdul-Mohsen Gaeth, and Naji Jamil AlJohani. 2020. Molecular testing approaches in thyroid cancer diagnosis. Journal of Biochemical and Clinical Genetics, 3 (2), 77-83. doi:10.24911/JBCGenetics/183-1594975192


Chicago Style

AlHejaily, Abdul-Mohsen Gaeth, and Naji Jamil AlJohani. "Molecular testing approaches in thyroid cancer diagnosis." Journal of Biochemical and Clinical Genetics 3 (2020), 77-83. doi:10.24911/JBCGenetics/183-1594975192


MLA (The Modern Language Association) Style

AlHejaily, Abdul-Mohsen Gaeth, and Naji Jamil AlJohani. "Molecular testing approaches in thyroid cancer diagnosis." Journal of Biochemical and Clinical Genetics 3.2 (2020), 77-83. Print. doi:10.24911/JBCGenetics/183-1594975192


APA (American Psychological Association) Style

AlHejaily, A. G. & AlJohani, . N. J. (2020) Molecular testing approaches in thyroid cancer diagnosis. Journal of Biochemical and Clinical Genetics, 3 (2), 77-83. doi:10.24911/JBCGenetics/183-1594975192


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