Clinical validation of the ThyroSeq v3 genomic classifier in thyroid nodules with indeterminate FNA cytology

Nikiforov, Yuri E.; Baloch, Zubair W.

doi:10.1002/cncy.22112

Cited by 71 publications

(58 citation statements)

References 25 publications

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“…In North America, thanks to a well-resourced, reimbursement-based healthcare system, undetermined FNAs are outsourced to a few large centralized laboratories that perform proprietary molecular testing by next generation sequencing to comprehensively assess point mutations, gene fusions, copy number gains, and expression profiling of a very large number of target genes. [28][29][30] Conversely, in the European universal healthcare system, the more limited financial resources are only sufficient to reimburse a preliminary screening based on less comprehensive and simpler assays that are performed in a larger number of laboratories closer to patients' homes. 28,31 In this setting, the Idylla NRAS-BRAF Mutation Test may represent an optimal screening tool which means only cases with no BRAF and NRAS alterations to be sent to specialized centers for testing.…”

Section: Discussionmentioning

confidence: 99%

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

Luca

Sgariglia

Nacchio

et al. 2020

Diagnostic Cytopathology

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Background Thyroid fine‐needle aspirates (FNAs) with undetermined morphology can be outsourced to centralized laboratories for comprehensive molecular profiling. When a local, rapid screening rules out easily detectable BRAF and NRAS mutations outsourcing is minimized, leading to cost savings. The fully automated Idylla technology, that does not require trained staff, is an emerging option. However, Idylla platform has only been validated to process formalin fixed paraffin embedded (FFPE) sections. Here we investigate whether also the FNA needle rinse could be genotyped by the same cytopathologist who performs the FNA, a procedure that can be termed rapid on site molecular evaluation (ROME). Methods To validate this approach, the Idylla BRAF and NRAS Test was performed on the rinses from 25 simulated (bench‐top) FNAs, in a first part of the study. Genotyping data were compared with those obtained on matched histological FFPE blocks. The second part of the study was carried out on 25 prospectively collected routine FNAs to assess the performance of the Idylla BRAF and NRAS assay against a gold standard real time polymerase chain reaction method. Results Idylla NRAS‐BRAF Mutation Test was performed on needle rinse as well as histological FFPE blocks. A sensitivity of 88.9%, a specificity of 100.0% were obtained comparing the Idylla NRAS‐BRAF Mutation Test on needle rinse to the reference method. Conclusions The FNA needle rinse can be directly genotyped. This obviates the need of cell block preparation, making possible a rapid combined morphological and molecular evaluation. Since DNA extraction is no longer necessary, the cytopathologist can perform ROME him/herself.

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Section: Discussionmentioning

confidence: 99%

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

Luca

Sgariglia

Nacchio

et al. 2020

Diagnostic Cytopathology

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“…The future of TBSRTC is dependent upon the best available evidence regarding the pathologic and molecular diagnosis and management of thyroid lesions to identify knowledge gaps and promote future studies to close those gaps. 45,56,57,65,66 It will not be considered a farfetched thought that the cytologic interpretation of thyroid nodules along with ultrasound features and molecular profiling will not only help to streamline management but will aid to prognosticate and predict response to therapy of thyroid malignancy.…”

Section: The Futurementioning

confidence: 99%

The Bethesda System for Reporting Thyroid Cytology (TBSRTC): From look‐backs to look‐ahead

Baloch

LiVolsi

2020

Diagnostic Cytopathology

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The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) was formalized in October 2007 by experts in thyroidology at the National Institute of Health in Bethesda, Maryland. The first edition of the TBSRTC book was published in 2010 and the second edition in 2018. The TBSRTC is widely employed in cytology practices in the United States and has also served as a model for similar tiered classification schemes for reporting thyroid cytopathology specimens. The tremendous success of TBSRTC cannot be underscored, it has provided a diagnostic framework which is well aligned with the present and the future of thyroid nodule management.

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“…As a "rule out" test with a benign call rate (proportion of FNA with negative MT as predictor of avoidable diagnostic surgery) of 61% of all Bethesda III and IV nodules and 82% of indeterminate nodules the ThyroSeq v3 could help to prevent diagnostic lobectomy [86,152]. However, further studies are needed to evaluate the clinical relevant performance [154].…”

Section: Molecular Testingmentioning

confidence: 99%

Molecular Markers Guiding Thyroid Cancer Management

Nylén

Mechera

Maréchal-Ross

et al. 2020

Cancers

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The incidence of thyroid cancer is rapidly increasing, mostly due to the overdiagnosis and overtreatment of differentiated thyroid cancer (TC). The increasing use of potent preclinical models, high throughput molecular technologies, and gene expression microarrays have provided a deeper understanding of molecular characteristics in cancer. Hence, molecular markers have become a potent tool also in TC management to distinguish benign from malignant lesions, predict aggressive biology, prognosis, recurrence, as well as for identification of novel therapeutic targets. In differentiated TC, molecular markers are mainly used as an adjunct to guide management of indeterminate nodules on fine needle aspiration biopsies. In contrast, in advanced thyroid cancer, molecular markers enable targeted treatments of affected signalling pathways. Identification of the driver mutation of targetable kinases in advanced TC can select treatment with mutation targeted tyrosine kinase inhibitors (TKI) to slow growth and reverse adverse effects of the mutations, when traditional treatments fail. This review will outline the molecular landscape and discuss the impact of molecular markers on diagnosis, surveillance and treatment of differentiated, poorly differentiated and anaplastic follicular TC.

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Clinical validation of the ThyroSeq v3 genomic classifier in thyroid nodules with indeterminate FNA cytology

Cited by 71 publications

References 25 publications

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

The Bethesda System for Reporting Thyroid Cytology (TBSRTC): From look‐backs to look‐ahead

Molecular Markers Guiding Thyroid Cancer Management

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