ArticleMolecular diagnosis & therapy2014
Tumor cellularity as a quality assurance measure for accurate clinical detection of BRAF mutations in melanoma.
Article in Molecular diagnosis & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
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- Test Feasibility of Next-Generation Sequencing Assays in Clinical Mutation Detection of Small Biopsy and Fine Needle Aspiration Specimens.American journal of clinical pathology · 2016Article
- Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective.BioMed research international · 2016Review
- NRASQ61R immunohistochemistry: a new tool for mutational status screening in challenging melanoma samples.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- Clinical detection and categorization of uncommon and concomitant mutations involving BRAF.BMC cancer · 2015Article
- Performance characteristics of next-generation sequencing in clinical mutation detection of colorectal cancers.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Article
- Automated tumor analysis for molecular profiling in lung cancer.Oncotarget · 2015Article
- Comparison between two widely used laboratory methods in BRAF V600 mutation detection in a large cohort of clinical samples of cutaneous melanoma metastases to the lymph nodes.International journal of clinical and experimental pathology · 2015Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundDetection of BRAF mutations is an established standard of care to predict small-molecule inhibitor (vemurafenib) response in metastatic melanoma. Molecular assays should be designed to detect not only the most common p.V600E mutation, but also p.V600K and other non-p.V600E mutations.
objectiveThe purpose of this study was to assess if tumor cellularity can function as a quality assurance (QA) measure in molecular diagnostics. Potential causes of discrepancy between the observed and predicted mutant allele percentage were also explored.
methodsWe correlated pathologist-generated estimates of tumor cellularity versus mutant allele percentage via pyrosequencing as a QA measure for BRAF mutation detection in formalin-fixed, paraffin-embedded melanoma specimens.
resultsBRAF mutations were seen in 27/62 (44 %) specimens, with 93 % p.V600E and 7 % non-p.V600E. Correlation between p.V600E mutant percentage and tumor cellularity was poor-moderate (r = -0.02; p = 0.8), primarily because six samples showed a low p.V600E signal despite high tumor cellularity. A QA investigation revealed that our initial pyrosequencing assay showed a false positive, weak p.V600E signal in specimens with a p.V600K mutation. A redesigned assay detected BRAF mutations in 50/131 (38 %) specimens, including 30 % non-p.V600E. This revised assay showed strong correlation between p.V600E BRAF mutant percentage and tumor cellularity (r = 0.76; p ≤ 0.01). Re-evaluation of the previously discordant samples by the revised assay confirmed a high level of p.V600K mutation in five specimens.
conclusionsPathologists play important roles in molecular diagnostics, beyond identification of correct cells for testing. Accurate evaluation of tumor cellularity not only ensures sufficient material for required analytic sensitivity, but also provides an independent QA measure of the molecular assays.
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