Template for Reporting Results of Biomarker Testing of Specimens From Patients With Melanoma

Sholl, Lynette M.; Andea, Aleodor A.; Bridge, Julia A.; Liu, Cheng; Davies, Michael A.; Ehteshami, Mani; Gangadhar, Tara C.; Kamel‐Reid, Suzanne; Lazar, Alexander J.; Raparia, Kirtee; Siroy, Alan; Watson, K

doi:10.5858/arpa.2015-0278-cp

Cited by 9 publications

(7 citation statements)

References 16 publications

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“…Nearly all tests currently in use are DNA-based. They include allele-specific PCR assays to selectively amplify the candidate BRAF codon and direct sequencing strategies (SS, pyrosequencing, or NGS) to determine the nucleotide sequence of the gene [ 31 ]. In Europe, at least three allele specific PCR tests have been CE-IVD certified for diagnostics: the PNAClamp™ BRAF Mutation detection kit (Panagene), the Cobas ® 4800 BRAF V600 mutation kit (Roche Diagnostics), and the Idylla TM BRAF mutation kit (Biocartis).…”

Section: Discussionmentioning

confidence: 99%

Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients

Colombino¹,

Rozzo

Paliogiannis

et al. 2020

JCM

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Malignant melanoma (MM) is one of the deadliest skin cancers. BRAF mutation status plays a predominant role in the management of MM patients. The aim of this study was to compare BRAF mutational testing performed by conventional nucleotide sequencing approaches with either real-time polymerase chain reaction (rtPCR) or next-generation sequencing (NGS) assays in a real-life, hospital-based series of advanced MM patients. Consecutive patients with AJCC (American Joint Committee on Cancer) stage IIIC and IV MM from Sardinia, Italy, who were referred for molecular testing, were enrolled into the study. Initial screening was performed to assess the mutational status of the BRAF and NRAS genes, using the conventional methodologies recognized by the nationwide guidelines, at the time of the molecular classification, required by clinicians: at the beginning, Sanger-based sequencing (SS) and, after, pyrosequencing. The present study was then focused on BRAF mutation detecting approaches only. BRAF wild-type cases with available tissue and adequate DNA were further tested with rtPCR (Idylla™) and NGS assays. Globally, 319 patients were included in the study; pathogenic BRAF mutations were found in 144 (45.1%) cases examined with initial screening. The rtPCR detected 11 (16.2%) and 3 (4.8%) additional BRAF mutations after SS and pyrosequencing, respectively. NGS detected one additional BRAF-mutated case (2.1%) among 48 wild-type cases previously tested with pyrosequencing and rtPCR. Our study evidenced that rtPCR and NGS were able to detect additional BRAF mutant cases in comparison with conventional sequencing methods; therefore, we argue for the preferential utilization of the aforementioned assays (NGS and rtPCR) in clinical practice, to eradicate false-negative cases and improve the accuracy of BRAF detection.

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Section: Discussionmentioning

confidence: 99%

Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients

Colombino¹,

Rozzo

Paliogiannis

et al. 2020

JCM

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“…Several BRAF mutation tests are currently in use; they are classified as DNA based or antibody based. 90 DNA-based tests include those that use PCR to selectively amplify the mutant BRAF gene and others that directly determine the nucleotide sequence of the BRAF gene. 26 , 90 Of note, PCR and other DNA-based tests reveal the presence (or absence) of the gene but do not indicate whether the gene is being transcribed and translated into a protein.…”

Section: Braf V600 Mutation Diagnostic Testsmentioning

confidence: 99%

“…Currently, the only available antibody-based test for mutant BRAF protein uses the monoclonal antibody VE1 to detect expression in tumor samples using IHC. 26 , 90 , 91 This approach is effective in identifying a qualitative change (ie, presence or absence of the protein) but is less accurate in quantitating changes in expression than other antibody-based assays, such as the enzyme-linked immunosorbent assay. 92 …”

Section: Braf V600 Mutation Diagnostic Testsmentioning

confidence: 99%

“…Although the RT-PCR-based cobas 4800 and THxID assays are the companion diagnostic tests for BRAF plus MEK inhibitor use, many treatment centers use laboratory-developed tests based on other DNA sequencing methods. 87 , 90 The goal of genomic sequencing in the context of BRAF testing is to identify any one of the nucleic acid substitutions associated with the mutant BRAF gene ( Table 2 ). The advantage of genomic sequencing is that it is not specific for a certain mutation; therefore, any change in the sequence may be identified.…”

Section: Braf V600 Mutation Diagnostic Testsmentioning

confidence: 99%

“…Three main methods are currently being used: Sanger sequencing, pyrosequencing, and high-resolution melt analysis/real-time PCR. 87 , 90 , 96 Next generation sequencing platform is less frequently used in clinical labs and is beyond the scope of this review. 90 , 97 …”

Section: Braf V600 Mutation Diagnostic Testsmentioning

confidence: 99%

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Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine

et al. 2018

Self Cite

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Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being the most common mutation. Targeted therapy with BRAF and MEK inhibitors is associated with significant long-term treatment benefit in patients with BRAF V600-mutated melanoma. Therefore, molecular testing for BRAF mutations is a priority in determining the course of therapy. A literature search was performed using MEDLINE/PubMed and scientific congress databases using the terms ‘BRAF,’ ‘mutation,’ and ‘cancer/tumor.’ These results were filtered to include manuscripts that focused on diagnostic tests for determining BRAF mutation status. Numerous BRAF testing methods were identified, including DNA-based companion diagnostic tests and DNA- and protein-based laboratory-developed tests. Herein we review the characteristics of each method and highlight the strengths and weaknesses that should be considered before use and when interpreting results for each patient. Molecular profiling has shown that mutation load increases with melanoma tumor progression and that unique patterns of genetic changes and evolutionary trajectories for different melanoma subtypes can occur. Discordance in the BRAF mutational status between primary and metastatic lesions, as well as intratumoral heterogeneity, is known to occur. Additionally, the development of acquired resistance to combination BRAF and MEK inhibitor therapy is still a formidable obstacle. Therefore, tumor heterogeneity and the development of acquired resistance have important implications for molecular testing and ultimately the treatment of patients with advanced-stage melanoma. Overall, this information may help community oncologists more accurately and effectively interpret results of diagnostic tests within the context of recent data characterizing melanoma tumor progression.

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Medicina de precisión: rol de la anatomía patológica en diagnóstico y tratamiento personalizado

Quiroz

Heras

2022

Revista Médica Clínica Las Condes

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Template for Reporting Results of Biomarker Testing of Specimens From Patients With Melanoma

Cited by 9 publications

References 16 publications

Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients

Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients

Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine

Medicina de precisión: rol de la anatomía patológica en diagnóstico y tratamiento personalizado

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