Advertisement

 

 

Molecular testing of BRAF, RAS and TERT on thyroid FNAs with indeterminate cytology improves diagnostic accuracy.

Molecular testing of BRAF, RAS and TERT on thyroid FNAs with indeterminate cytology improves diagnostic accuracy.
Author Information (click to view)

Decaussin-Petrucci M, Descotes F, Depaepe L, Lapras V, Denier ML, Borson-Chazot F, Lifante JC, Lopez J,


Decaussin-Petrucci M, Descotes F, Depaepe L, Lapras V, Denier ML, Borson-Chazot F, Lifante JC, Lopez J, (click to view)

Decaussin-Petrucci M, Descotes F, Depaepe L, Lapras V, Denier ML, Borson-Chazot F, Lifante JC, Lopez J,

Advertisement
Share on FacebookTweet about this on TwitterShare on LinkedIn

Cytopathology : official journal of the British Society for Clinical Cytology 2017 11 02() doi 10.1111/cyt.12493

Abstract
OBJECTIVE
Liquid-based (LB)-FNA is widely recognized as a reliable diagnostic method to evaluate thyroid nodules. However, up to 30% of LB-FNA remain indeterminate according to the Bethesda system. Use of molecular biomarkers has been recommended to improve its pathological accuracy but implementation of these tests in clinical practice may be difficult. Here, we evaluated feasibility and performance of molecular profiling in routine practice by testing LB-FNA for BRAF, N/HRAS and TERT mutations.

METHODS
We studied a large prospective cohort of 326 cases, including 61 atypia of undetermined significance, 124 follicular neoplasms, 72 suspicious for malignancy and 69 malignant cases. Diagnosis of malignancy was confirmed by histology on paired surgical specimen.

RESULTS
Mutated LB-FNAs were significantly associated with malignancy regardless of the cytological classification. Overall sensitivity was 60% and specificity 89%. Importantly, in atypia of undetermined significance and follicular neoplasm patients undergoing surgery according to the Bethesda guidelines, negative predictive values were 85.4% and 90% respectively. TERT promoter mutation was rare but very specific for malignancy (5.5%) suggesting that it could be of interest in patients with indeterminate cytology.

CONCLUSIONS
Mutation profiling can be successfully performed on thyroid LB-FNA without any dedicated sample in a pathology laboratory. It is an easy way to improve diagnostic accuracy of routine LB-FNA and may help to better select patients for surgery and to avoid unnecessary thyroidectomies.

Submit a Comment

Your email address will not be published. Required fields are marked *

twelve + seven =

[ HIDE/SHOW ]