ArticleDiagnostic pathology2014
Analysis of BRAF(V600E) mutation and DNA methylation improves the diagnostics of thyroid fine needle aspiration biopsies.
Article in Diagnostic pathology, 2014. 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.
- Pooled it
- Meta-analysis of promoter methylation in eight tumor-suppressor genes and its association with the risk of thyroid cancer.PloS one · 2017Pooled it
- Discovery and validation of PARP4 methylation in distinguishing thyroid cancer from benign nodule.Journal of endocrinological investigation · 2026Article
- Targeting DUSP5 suppresses malignant phenotypes of BRAF-mutant thyroid cancer cells and improves their response to sorafenib.Endocrine · 2024Article
- Promoter DNA methylation patterns in oral, laryngeal and oropharyngeal anatomical regions are associated with tumor differentiation, nodal involvement and survival.Oncology letters · 2024Article
- Integrative Analysis of DNA Methylation and Gene Expression Identified Follicular Thyroid Cancer-Specific Diagnostic Biomarkers.Frontiers in endocrinology · 2021Article
- Altered Epigenetic Mechanisms in Thyroid Cancer Subtypes.Molecular diagnosis & therapy · 2018Review
- MGMT and CALCA promoter methylation are associated with poor prognosis in testicular germ cell tumor patients.Oncotarget · 2017Article
- Diagnostic Value of the Methylation of Multiple Gene Promoters in Serum in Hepatitis B Virus-Related Hepatocellular Carcinoma.Disease markers · 2017Article
- Comparison of two different standards of care in detecting malignant thyroid nodules using thyroid fine-needle aspiration.Molecular and clinical oncology · 2015Article
- RUNX3 site-specific hypermethylation predicts papillary thyroid cancer recurrence.American journal of cancer research · 2014Article
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9 authors.
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Abstract
backgroundThyroid nodules with indeterminate cytological features on fine needle aspiration biopsy specimens (FNABs) have a ~20% risk of thyroid cancer. BRAF(V600E) mutation and DNA methylation are useful markers to distinguish malignant thyroid neoplasm from benign. The aim of this study was to determine whether combined detection of BRAF(V600E) mutation and methylation markers on FNABs could improve the diagnostic accuracy of thyroid cancer.
methodsUsing pyrosequencing and quantitative methylation-specific PCR (Q-MSP) methods, FNABs from 79 and 38 patients with thyroid nodules in training and test groups, respectively, were analyzed for BRAF(V600E) mutation and gene methylation.
resultsBRAF(V600E) mutation was found in 30/42 (71.4%) and 14/20 (70%) FNABs in training and test groups, respectively. All BRAF(V600E)-positive samples were histologically diagnosed as papillary thyroid cancer (PTC) after thyroidectomy. As expected, BRAF mutation was not found in all benign nodules. Moreover, we demonstrated that the five genes, including CALCA, DAPK1, TIMP3, RAR-beta and RASSF1A, were aberrantly methylated in FNABs. Of them, methylation level of DAPK1 in PTCs was significantly higher than that in benign samples (P <0.0001). Conversely, methylation level of RASSF1A in PTCs was significantly lower than that in benign samples (P =0.003). Notably, compared with BRAF mutation testing alone, combined detection of BRAF mutation and methylation markers increased the diagnostic sensitivity and accuracy of PTC with excellent specificity.
conclusionOur data have demonstrated that combine analysis of BRAF mutation and DNA methylation markers on FNABs may be a useful strategy to facilitate the diagnosis of malignant thyroid neoplasm, particularly PTC. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/6080878071149177.
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