ArticleJournal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale2018
Analytic and clinical validity of thyroid nodule mutational profiling using droplet digital polymerase chain reaction.
Article in Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Preoperative molecular testing in thyroid nodules with Bethesda VI cytology: Clinical experience and review of the literature.Diagnostic cytopathology · 2021Pooled it
- Molecular Variants and Their Risks for Malignancy in Cytologically Indeterminate Thyroid Nodules.Thyroid : official journal of the American Thyroid Association · 2019Pooled it
- Detection ofBiomolecules · 2021Trial
- Advances in Molecular Profiling and Their Potential Influence on the Extent of Surgery in Well-Differentiated Thyroid Carcinoma (WDTC).Life (Basel, Switzerland) · 2023Article
- Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review.Molecular diagnosis & therapy · 2022Review
- BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas ≤ 1.5 cm.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2021Article
- Utility of droplet digital polymerase chain reaction for TERT and BRAF mutational profiling of thyroid nodules.BMC cancer · 2021Article
- Comparison of the Clinical Validity of Droplet Digital PCR to ARMS-PCR for BRAF V600E Mutation Detection in Thyroid Nodules.Journal of clinical laboratory analysis · 2020Article
- Diagnostic performance of combination of ultrasound elastography and BRAF gene detection in malignant thyroid nodule: a retrospective study.International journal of clinical and experimental pathology · 2020Article
- Molecular mutations as a possible factor for determining extent of thyroid surgery.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2019Article
- BRAFCancer medicine · 2019Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent guidelines for the management of thyroid nodules incorporate mutation testing as an adjunct for surgical decision-making, however current tests are costly with limited accuracy. Droplet digital PCR (ddPCR) is an ultrasensitive method of nucleic acid detection that is particularly useful for identifying gene mutations. This study aimed to assess the analytic and clinical validity of RAS and BRAF ddPCR mutational testing as a diagnostic tool for thyroid fine needle aspirate biopsy (FNAB).
methodsPatients with thyroid nodules meeting indication for FNAB were prospectively enrolled from March 2015 to September 2017. In addition to clinical protocol, an additional FNAB was obtained for ddPCR. Optimized ddPCR probes were used to detect mutations including HRASG12 V, HRASQ61K, HRASQ61R, NRASQ61R, NRASQ61K and BRAFV600E. The diagnostic performance of BRAF and RAS mutations was assessed individually or in combination with Bethesda classification against final surgical pathology.
resultsA total of 208 patients underwent FNAB and mutational testing with the following Bethesda cytologic classification: 26.9% non-diagnostic, 55.2% benign, 5.3% FLUS/AUS, 2.9% FN/SPN, 2.4% SFM and 7.2% malignant. Adequate RNA was obtained from 91.3% (190) FNABs from which mutations were identified in 21.1% of HRAS, 11.5% of NRAS and 7.4% of BRAF. Malignant cytology or BRAFV600E was 100% specific for malignancy. Combining cytology with ddPCR BRAF600E mutations testing increased the sensitivity of Bethesda classification from 41.7 to 75%. Combined BRAFV600E and Bethesda results had a positive predictive value (PPV) of 100% and negative predictive value (NPV) of 89.7% for thyroid malignancy in our cohort.
conclusionsDdPCR offers a novel and ultrasensitive method of detecting RAS and BRAF mutations from thyroid FNABs. BRAFV600E mutation testing by ddPCR may serve as a useful adjunct to increase sensitivity and specificity of thyroid FNAB.
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