Literature DB >> 22332713

Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraffin-embedded tissue specimens of malignant melanoma.

Steven Anderson1, Kenneth J Bloom, Dino U Vallera, Josef Rueschoff, Cliff Meldrum, Robert Schilling, Barbara Kovach, Ju Ruey-Jiuan Lee, Pam Ochoa, Rachel Langland, Harkanwal Halait, H Jeffrey Lawrence, Michael C Dugan.   

Abstract

CONTEXT: A polymerase chain reaction-based companion diagnostic (cobas 4800 BRAF V600 Mutation Test) was recently approved by the US Food and Drug Administration to select patients with BRAF-mutant metastatic melanoma for treatment with the BRAF inhibitor vemurafenib.
OBJECTIVES: (1) To compare the analytic performance of the cobas test to Sanger sequencing by using screening specimens from phase II and phase III trials of vemurafenib, and (2) to assess the reproducibility of the cobas test at different testing sites.
DESIGN: Specimens from 477 patients were used to determine positive and negative percent agreements between the cobas test and Sanger sequencing for detecting V600E (1799T>A) mutations. Specimens were evaluated with a massively parallel pyrosequencing method (454) to resolve discordances between polymerase chain reaction and Sanger results. Reproducibility of the cobas test was assessed at 3 sites by using 3 reagent lots and an 8-member panel of melanoma samples.
RESULTS: A valid cobas result was obtained for all eligible patients. Sanger sequencing had a failure rate of 9.2% (44 of 477). For the remaining 433 specimens, positive percent agreement was 96.4% (215 of 223) and negative percent agreement, 80% (168 of 210). Among 42 cobas mutation-positive/Sanger V600E-negative specimens, 17 were V600E positive and 24 were V600K positive by 454. The cobas test detected 70% of V600K mutations. In the reproducibility study, a correct interpretation was made for 100% of wild-type specimens and specimens with greater than 5% mutant alleles; V600E mutations were detected in 90% of specimens with less than 5% mutant alleles.
CONCLUSIONS: The cobas test (1) had a lower assay failure rate than that of Sanger, (2) was more sensitive in detecting V600E mutations, (3) detected most V600K mutations, and (4) was highly reproducible.

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Year:  2012        PMID: 22332713     DOI: 10.5858/arpa.2011-0505-OA

Source DB:  PubMed          Journal:  Arch Pathol Lab Med        ISSN: 0003-9985            Impact factor:   5.534


  51 in total

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Authors:  Janice M Mehnert; Harriet M Kluger
Journal:  Curr Oncol Rep       Date:  2012-10       Impact factor: 5.075

2.  New combinations and immunotherapies for melanoma: latest evidence and clinical utility.

Authors:  Alexander M Menzies; Georgina V Long
Journal:  Ther Adv Med Oncol       Date:  2013-09       Impact factor: 8.168

Review 3.  Comparison of Molecular Methods and BRAF Immunohistochemistry (VE1 Clone) for the Detection of BRAF V600E Mutation in Papillary Thyroid Carcinoma: A Meta-Analysis.

Authors:  Kyle G Parker; Michael G White; Nicole A Cipriani
Journal:  Head Neck Pathol       Date:  2020-05-01

4.  Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

Authors:  S Martín-Algarra; M T Fernández-Figueras; J A López-Martín; A Santos-Briz; A Arance; M D Lozano; A Berrocal; J J Ríos-Martín; E Espinosa; J L Rodríguez-Peralto
Journal:  Clin Transl Oncol       Date:  2013-10-16       Impact factor: 3.405

5.  The metabolic microenvironment of melanomas: Prognostic value of MCT1 and MCT4.

Authors:  Céline Pinheiro; Vera Miranda-Gonçalves; Adhemar Longatto-Filho; Anna L S A Vicente; Gustavo N Berardinelli; Cristovam Scapulatempo-Neto; Ricardo F A Costa; Cristiano R Viana; Rui M Reis; Fátima Baltazar; Vinicius L Vazquez
Journal:  Cell Cycle       Date:  2016-04-22       Impact factor: 4.534

6.  Recent new drug approvals, part 2: drugs undergoing active clinical studies in children.

Authors:  Rebecca F Chhim; Chasity M Shelton; Michael L Christensen
Journal:  J Pediatr Pharmacol Ther       Date:  2013-01

7.  Test Feasibility of Next-Generation Sequencing Assays in Clinical Mutation Detection of Small Biopsy and Fine Needle Aspiration Specimens.

Authors:  Gang Zheng; Harrison Tsai; Li-Hui Tseng; Peter Illei; Christopher D Gocke; James R Eshleman; George Netto; Ming-Tseh Lin
Journal:  Am J Clin Pathol       Date:  2016-05       Impact factor: 2.493

8.  Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study.

Authors:  Grant A McArthur; Paul B Chapman; Caroline Robert; James Larkin; John B Haanen; Reinhard Dummer; Antoni Ribas; David Hogg; Omid Hamid; Paolo A Ascierto; Claus Garbe; Alessandro Testori; Michele Maio; Paul Lorigan; Celeste Lebbé; Thomas Jouary; Dirk Schadendorf; Stephen J O'Day; John M Kirkwood; Alexander M Eggermont; Brigitte Dréno; Jeffrey A Sosman; Keith T Flaherty; Ming Yin; Ivor Caro; Suzanne Cheng; Kerstin Trunzer; Axel Hauschild
Journal:  Lancet Oncol       Date:  2014-02-07       Impact factor: 41.316

9.  Clinical utility of a blood-based BRAF(V600E) mutation assay in melanoma.

Authors:  David J Panka; Elizabeth Buchbinder; Anita Giobbie-Hurder; Aislyn P Schalck; Laleh Montaser-Kouhsari; Alireza Sepehr; Donald P Lawrence; David F McDermott; Rachel Cohen; Alexander Carlson; Jennifer A Wargo; Ryan Merritt; Virginia J Seery; F Stephen Hodi; Anasuya Gunturi; Dennie Fredrick; Michael B Atkins; A John Iafrate; Keith T Flaherty; James W Mier; Ryan J Sullivan
Journal:  Mol Cancer Ther       Date:  2014-10-15       Impact factor: 6.261

10.  Tumor cellularity as a quality assurance measure for accurate clinical detection of BRAF mutations in melanoma.

Authors:  Jonathan C Dudley; Grzegorz T Gurda; Li-Hui Tseng; Derek A Anderson; Guoli Chen; Janis M Taube; Christopher D Gocke; James R Eshleman; Ming-Tseh Lin
Journal:  Mol Diagn Ther       Date:  2014-08       Impact factor: 4.074

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