Does the likelihood of malignancy in thyroid nodules with RAS mutations increase in direct proportion with the allele frequency percentage?

Hudson, Thomas J.

Pusztaszeri, Marc Philippe

Hier, Michael P.

Forest, Veronique-Isabelle

Yang, Ji-Wei

Payne, Richard

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10.1186_s40463-022-00611-8.pdf 1,18MB

Name

Value

Titel

Does the likelihood of malignancy in thyroid nodules with RAS mutations increase in direct proportion with the allele frequency percentage?

Autor/in

Erscheinungsjahr

2023

Publikationstyp

Artikel |

Online veröffentlicht

2023-01-01

Erschienen in

http://lobid.org/resources/99370676162206441#! |

Quellenangabe

52(1)

Copyrightjahr

2023

Lizenz

https://repository.publisso.de/resource/frl:6475383 |

Verlagsversion

https://doi.org/10.1186/s40463-022-00611-8 |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9921308/ |

Publikationsstatus

Postprint Verlagsversion |

Begutachtungsstatus

begutachtet (Peer-reviewed) |

Sprache der Publikation

Englisch |

Abstract/Summary

<jats:sec><jats:title>Background</jats:title><jats:p> Genomic testing has enhanced pre-surgical decision making for cytologically indeterminate thyroid nodules, but there remains uncertainty regarding RAS mutations. The addition of extra genetic alterations to previous driver mutation panels has been shown to improve predictive value. This study aims to evaluate the relationship between the mutant allele frequency (AF) and likelihood of malignancy in thyroid nodules with RAS mutations. </jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p> A retrospective cohort review was performed evaluating patients with indeterminate cytology (Bethesda categories III, IV and V) and ThyroSeq® v3 testing demonstrating a RAS mutation, who underwent surgery. Univariate and multivariate regression analyses were used to evaluate relationships between AF, other genetic alterations, and malignancy. </jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p> Thirty-nine patients met criteria, 77% of the thyroid nodules (30/39) were found to be malignant. None demonstrated aggressive pathology. On univariate regression, there was no relationship between AF and likelihood of malignancy. There was, however, a significant correlation between AF and the rate of an additional genetic alteration. Multivariate analysis found a trend between RAS, a second genetic alteration and malignancy, but it did not reach statistical significance. </jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p> There was no direct relationship between the level of allelic frequency in thyroid nodules expressing RAS mutations and the likelihood of malignancy. There was a statistically significant relationship between increasing AF and the presence of a second genetic abnormality, suggesting a possible progression from initial driver mutation and then a second genetic alteration prior to malignant transformation. </jats:p></jats:sec><jats:sec><jats:title>Graphical Abstract</jats:title><jats:p> </jats:p></jats:sec>

Sacherschließung

lokal	Thyroid Nodule/surgery [MeSH]
lokal	Thyroid Nodule/pathology [MeSH]
lokal	Mutation [MeSH]
lokal	Humans [MeSH]
lokal	ras Proteins/genetics [MeSH]
lokal	Thyroid nodules
lokal	Predictive Value of Tests [MeSH]
lokal	Retrospective Studies [MeSH]
lokal	Thyroid cancer
lokal	Thyroid Neoplasms/genetics [MeSH]
lokal	Thyroid Nodule/genetics [MeSH]
lokal	Thyroid Neoplasms/pathology [MeSH]
lokal	Genetics
lokal	Thyroid Neoplasms/surgery [MeSH]
lokal	Cytology
lokal	Original Research Article
lokal	Allele frequency
lokal	Gene Frequency [MeSH]

Liste der Beteiligten

https://frl.publisso.de/adhoc/uri/SHVkc29uLCBUaG9tYXMgSi4=|https://frl.publisso.de/adhoc/uri/UHVzenRhc3plcmksIE1hcmMgUGhpbGlwcGU=|https://frl.publisso.de/adhoc/uri/SGllciwgTWljaGFlbCBQLg==|https://frl.publisso.de/adhoc/uri/Rm9yZXN0LCBWZXJvbmlxdWUtSXNhYmVsbGU=|https://frl.publisso.de/adhoc/uri/WWFuZywgSmktV2Vp|https://orcid.org/0000-0003-3987-8243

Hinweis

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