BRAF V600 mutation detection in melanoma: a comparison of two laboratory testing methods

O’Brien, Odharnaith; Lyons, Tomas; Murphy, Sandra; Feeley, Linda; Power, Derek G.; Heffron, Cynthia

doi:10.1136/jclinpath-2017-204367

Cited by 17 publications

(24 citation statements)

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“…Cases were regarded as positive if there was any evidence of cytoplasmic BRAF staining (1+, 2+, or 3+; see Figure ). This interpretation was used by our group previously in the validation of BRAF IHC …”

Section: Methodsmentioning

confidence: 99%

“…More recently, the development of a monoclonal antibody specific for BRAF V600E has made it feasible to test for mutant BRAF protein by immunohistochemistry (IHC). Multiple studies have demonstrated high concordance between results of testing by RT‐PCR and IHC . RT‐PCR is more widely validated and may identify rare mutations (such as V600K) that are not detectable on IHC but predict response to BRAF inhibition.…”

Section: Introductionmentioning

confidence: 99%

“…The reasons for this difference remain obscure and could include technical issues around use of the relatively recently developed VE1 antibody. Our center has significant previous experience in the application of VE1 . In view of this, we undertook the current study to investigate BRAF concordance by IHC between matched melanoma metastases and primary tumors to establish the rate of discordance in an Irish population.…”

Section: Introductionmentioning

confidence: 99%

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High concordance of BRAF mutational status in matched primary and metastatic melanoma

et al. 2018

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Background Techniques for the accurate identification of activating mutations of BRAF in metastatic melanoma are of great clinical importance, due to the availability of targeted therapies for these tumors. There is uncertainty regarding the frequency with which BRAF status differs between primary and metastatic sites. Methods Between 2011 and 2016, 219 melanoma cases underwent BRAF testing in our institution. In 53 of these cases, paired primary and metastatic specimens were available for polymerase chain reaction (PCR) and immunohistochemical evaluation. Results Fifty‐two out of 53 cases (98%) showed concordant BRAF status between primary and metastatic site by immunohistochemistry (IHC). In one case, a metastasis and its matched primary were positive by IHC, but the metastasis was negative on PCR. On further investigation, PCR was positive in the primary, and repeat PCR in the metastasis was positive, following macrodissection. Conclusions Our results suggest that discordance of BRAF mutational status between primaries and metastases is a rare occurrence. In one case, IHC provided strong evidence that initial PCR testing had provided a false‐negative result due to low tumor volume. Thus, in cases where tissue is difficult to obtain from a metastasis or unavailable, the primary tumor can be used with confidence.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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High concordance of BRAF mutational status in matched primary and metastatic melanoma

et al. 2018

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“…In malignant melanoma, the BRAF‐V600E mutation is associated with tumor aggressiveness and poor prognosis . The assessment of BRAF gene status is part of standard practice in patients diagnosed with metastatic melanoma and it is currently detected by DNA‐based methods, such as polymerase chain reaction (PCR) . However, the utilization of IHC to detect the VE1 antibody is rapidly emerging as a trustworthy technique to determine BRAF mutation status in patient tissue samples .…”

Section: Applications Of Predictive Biomarkersmentioning

confidence: 99%

“…However, the utilization of IHC to detect the VE1 antibody is rapidly emerging as a trustworthy technique to determine BRAF mutation status in patient tissue samples . Studies have shown high concordance rates among PCR and IHC methods in determining BRAF status, which suggests that immunohistochemistry is a viable and cost‐effective alternative to PCR testing that may be suitable as a screening test for the BRAF mutation in melanoma . The BRAF V600E mutation accounts for close to 50% of all BRAF mutations in NSCLC and has been associated with micropapillary histologic features.…”

Section: Applications Of Predictive Biomarkersmentioning

confidence: 99%

Overview of established and emerging immunohistochemical biomarkers and their role in correlative studies in MRI

Alvi

Gupta

Borok

et al. 2019

Magnetic Resonance Imaging

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Clinical practice in radiology and pathology requires professional expertise and many years of training to visually evaluate and interpret abnormal phenotypic features in medical images and tissue sections to generate diagnoses that guide patient management and treatment. Recent advances in digital image analysis methods and machine learning have led to significant interest in extracting additional information from medical and digital whole‐slide images in radiology and pathology, respectively. This has led to significant interest and research in radiomics and pathomics to correlate phenotypic features of disease with image analytics in order to identify image‐based biomarkers. The expanding role of big data in radiology and pathology parallels the development and role of immunohistochemistry (IHC) in the daily practice of pathology. IHC methods were initially developed to provide additional information to help classify tumors and then transformed into an indispensable tool to guide treatment in many types of cancer. IHC markers are used in daily practice to identify specific types of cells and highlight their distributions in tissues in order to distinguish benign from neoplastic cells, determine tumor origin, subclassify neoplasms, and support and confirm diagnoses. In this regard, radiomics, pathomics, and IHC methods are very similar since they enable the extraction of image‐based features to characterize various properties of diseases. Due to the dramatic advancements in recent radiomics research, we provide a brief overview of the role of established and emerging IHC biomarkers in various tumor types that have been correlated with radiologic biomarkers to improve diagnostic accuracy, predict prognosis, guide patient management, and select treatment strategies. Level of Evidence: 5 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2020;51:341–354.

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The Laboratory Evaluation of Melanoma

Lullo

Shitabata

2020

Practical Manual for Dermatologic and Surgical Melanoma Management

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BRAF V600 mutation detection in melanoma: a comparison of two laboratory testing methods

Cited by 17 publications

References 50 publications

High concordance of BRAF mutational status in matched primary and metastatic melanoma

High concordance of BRAF mutational status in matched primary and metastatic melanoma

Overview of established and emerging immunohistochemical biomarkers and their role in correlative studies in MRI

The Laboratory Evaluation of Melanoma

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