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
Simona Censi, Elisabetta Cavedon, Loris Bertazza, Francesca Galuppini, Sara Watutantrige-Fernando, Paola De Lazzari, Davide Nacamulli, Gianmaria Pennelli, Ambrogio Fassina, Maurizio Iacobone, Eric Casal Ide, Federica Vianello, Susi Barollo, Caterina 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 could help to orient the appropriate surgical strategy.
Pharmacology, Toxicology and Pharmaceutical Science
2
6%
Computer Science
1
3%
Unspecified
1
3%
Other
2
6%
Unknown
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42%
Attention Score in Context
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 October 2017.
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#17,638,787
of 25,932,719 outputs
Outputs from Frontiers in endocrinology
#5,283
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Outputs of similar age
#216,150
of 338,498 outputs
Outputs of similar age from Frontiers in endocrinology
#55
of 116 outputs
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