Frequency and Significance of Ras, Tert Promoter, and Braf Mutations in Cytologically Indeterminate Thyroid Nodules: A Monocentric Case Series at a Tertiary-Level Endocrinology Unit

Frontiers in Endocrinology
Simona CensiCaterina Mian

Abstract

The management of thyroid nodules of indeterminate cytology is controversial. Our study aimed to establish the frequency and significance of H-,K-,N-RAS, TERT promoter, and BRAF gene mutations in thyroid nodes of indeterminate cytology and to assess their potential usefulness in clinical practice. H-,K-,N-RAS, TERT promoter and BRAF gene mutations were examined in a series of 199 consecutive nodes of indeterminate cytology referred for surgical excision. 69/199 (35%) were malignant on histopathological review. RAS mutations were detected in 36/199 (18%), and 19/36 cases (53%) were malignant on histological diagnosis. TERT promoter mutations were detected in 7/199 (4%) nodules, which were all malignant lesions. BRAF mutations were detected in 15/199 (8%), and a BRAF K601E mutation was identified in 2 follicular adenomas and 1 noninvasive follicular thyroid neoplasm with papillary-like nuclear features. Altogether, this panel was able to identify 48% of the malignant lesions, achieving a specificity, positive predictive value, and negative predictive value for malignancy of 85, 62, and 75%, respectively. The residual malignancy risk in mutation-negative nodes is 25%. These nodes still need to be resected, but mutation analysis co...Continue Reading

References

Jan 10, 2002·Diagnostic Cytopathology·Zubair W BalochPrabodh K Gupta
Apr 17, 2003·Journal of the National Cancer Institute·Yoram CohenDavid Sidransky
May 20, 2005·Virchows Archiv : an International Journal of Pathology·Vítor TroviscoManuel Sobrinho-Simões
Jun 24, 2008·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Yuri E Nikiforov
Sep 1, 2011·Nature Reviews. Endocrinology·Yuri E Nikiforov, Marina N Nikiforova
Dec 6, 2011·Thyroid : Official Journal of the American Thyroid Association·Gianmaria PennelliCaterina Mian
Aug 29, 2012·Hereditary Cancer in Clinical Practice·Hans-Juergen SchultenJaudah Al-Maghrabi
Jun 15, 2013·Endocrine-related Cancer·Xiaoli LiuMingzhao Xing
Dec 4, 2013·Thyroid : Official Journal of the American Thyroid Association·Susi BarolloCaterina Mian
May 3, 2014·Journal of Endocrinological Investigation·Francesco NardiPaolo Vitti
Oct 22, 2014·Thyroid : Official Journal of the American Thyroid Association·Martina RossiMaria Chiara Zatelli
Dec 3, 2014·Molecular and Cellular Endocrinology·Marina MuzzaLaura Fugazzola
Oct 1, 2015·Thyroid : Official Journal of the American Thyroid Association·Christopher CoyneMarina N Nikiforova
Nov 10, 2015·Thyroid : Official Journal of the American Thyroid Association·Luigi De NapoliPaolo Miccoli
Jan 7, 2016·Endocrine-related Cancer·Rengyun Liu, Mingzhao Xing
Feb 26, 2016·Cancer Cytopathology·David N PollerBéatrix Cochand-Priollet

❮ Previous
Next ❯

Citations

Apr 24, 2019·Diagnostic Cytopathology·John Woody SistrunkEdward Grant
Aug 31, 2019·Thyroid : Official Journal of the American Thyroid Association·Whitney S GoldnerRichard T Kloos
Mar 29, 2018·The Journal of Clinical Endocrinology and Metabolism·Masha J LivhitsMichael W Yeh
Aug 6, 2020·Cancers·Mohammad Al-JundiJoanna Klubo-Gwiezdzinska
Dec 20, 2019·Journal of Endocrinological Investigation·M MuzzaL Fugazzola
Aug 28, 2020·Frontiers in Oncology·Lidia Maria Rebolho Batista ArantesRui Manuel Reis
Apr 4, 2021·International Journal of Molecular Sciences·Loredana LorussoRossella Elisei

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

MedCalc
SIAPEC

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.