2021
DOI: 10.1001/jamanetworkopen.2021.27243
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Development of a Molecular Assay for Detection and Quantification of theBRAFVariation in Residual Tissue From Thyroid Nodule Fine-Needle Aspiration Biopsy Specimens

Abstract: IMPORTANCE Thyroid cancer, predominantly papillary thyroid carcinoma (PTC), is common, but an estimated 30% of ultrasonography-guided fine-needle aspiration (FNA) biopsies of thyroid nodules are indeterminate. BRAF variation, associated with poor clinicopathological characteristics, is a useful molecular marker for diagnostics. OBJECTIVETo develop a sensitive molecular assay for BRAF V600E detection in remaining tissue of thyroid FNA biopsies to identify patients with cancer carrying a BRAF variation. DESIGN, … Show more

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Cited by 9 publications
(13 citation statements)
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“…Real-time polymerase chain reaction (PCR) or next-generation sequencing were traditionally used for BRAF variant detection to select who will respond to the BRAF inhibitors. Recently immunohistochemistry and digital polymerase chain reaction are used for detecting BRAF V600E variant ( 6 , 7 ). BRAF inhibitors have been approved for the treatment of melanoma ( 8 - 10 ), non-small cell lung cancer ( 11 ), and colon cancer ( 12 ).…”
Section: Introductionmentioning
confidence: 99%
“…Real-time polymerase chain reaction (PCR) or next-generation sequencing were traditionally used for BRAF variant detection to select who will respond to the BRAF inhibitors. Recently immunohistochemistry and digital polymerase chain reaction are used for detecting BRAF V600E variant ( 6 , 7 ). BRAF inhibitors have been approved for the treatment of melanoma ( 8 - 10 ), non-small cell lung cancer ( 11 ), and colon cancer ( 12 ).…”
Section: Introductionmentioning
confidence: 99%
“…Several molecular tests are commercially available for risk stratification of nodules initially classified as AUS/ FLUS (16)(17)(18), but most of them also require another thyroid tissue sample from a full FNA pass via a repeat FNA procedure. Recently, we re-defined the clinical value of the residual tissues from FNA biopsies, which are considered discards after cytological examination, in assisting in diagnosis of AUS/FLUS biopsies by molecular assays (19). A sensitive digital polymerase chain reaction based molecular assay was established for accurate detection of BRAF V600E variation using residual specimens of FNA biopsies post cytology evaluation as an auxiliary approach for malignancy diagnosis of nodules falling into the AUS/FLUS or ND categories (19).…”
mentioning
confidence: 99%
“…Recently, we re-defined the clinical value of the residual tissues from FNA biopsies, which are considered discards after cytological examination, in assisting in diagnosis of AUS/FLUS biopsies by molecular assays (19). A sensitive digital polymerase chain reaction based molecular assay was established for accurate detection of BRAF V600E variation using residual specimens of FNA biopsies post cytology evaluation as an auxiliary approach for malignancy diagnosis of nodules falling into the AUS/FLUS or ND categories (19). Variant assay may be informative in AUS/ FLUS and, in particular, ND samples in which there is quantitative or qualitative inadequacy for cytological examination due to insufficient number of cells or poor sample preparation.…”
mentioning
confidence: 99%
“…However, false-positive staining can be observed by IHC and false-negative results by Sanger sequencing can be obtained when tumor DNA volume is low (6). More sensitive methods such as allele specific quantitative PCR (ASQ-PCR) (6), digital PCR (dPCR) (9,10), high-resolution melting analysis (11) and IntelliPlex TM multiplex system (12) exist, but they are less clinically available. Finally, several NGS cancer genome panels exist, most able to detect BRAF alterations, although not universally accessible due to high cost, approval for analysis at relapse but not initial diagnosis, and the process of clinical laboratory improvement amendments (CLIA) certification (13).…”
mentioning
confidence: 99%