Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes

Testing for the <i>BRAF</i> mutation is mandatory for the management of patients with locally advanced or metastatic melanoma. Molecular analysis based on DNA sequencing remains the gold-standard method for the screening of the different <i>BRAF</i> mutations. These methods m...

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Main Authors: Elodie Long-Mira, Alexandra Picard-Gauci, Sandra Lassalle, Véronique Hofman, Salomé Lalvée, Virginie Tanga, Katia Zahaf, Christelle Bonnetaud, Virginie Lespinet, Olivier Camuzard, Henri Montaudié, Gilles Poissonnet, Thierry Passeron, Marius Ilié, Paul Hofman
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/12/3/751
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author Elodie Long-Mira
Alexandra Picard-Gauci
Sandra Lassalle
Véronique Hofman
Salomé Lalvée
Virginie Tanga
Katia Zahaf
Christelle Bonnetaud
Virginie Lespinet
Olivier Camuzard
Henri Montaudié
Gilles Poissonnet
Thierry Passeron
Marius Ilié
Paul Hofman
author_facet Elodie Long-Mira
Alexandra Picard-Gauci
Sandra Lassalle
Véronique Hofman
Salomé Lalvée
Virginie Tanga
Katia Zahaf
Christelle Bonnetaud
Virginie Lespinet
Olivier Camuzard
Henri Montaudié
Gilles Poissonnet
Thierry Passeron
Marius Ilié
Paul Hofman
author_sort Elodie Long-Mira
collection DOAJ
description Testing for the <i>BRAF</i> mutation is mandatory for the management of patients with locally advanced or metastatic melanoma. Molecular analysis based on DNA sequencing remains the gold-standard method for the screening of the different <i>BRAF</i> mutations. These methods must be rapid, sensitive, and specific enough to allow optimal therapeutic management in daily practice and also to include patients in clinical trials. Here, we compared the Idylla <i>BRAF</i> Mutation Test and the anti-<i>BRAF V600E</i> (clone VE1) immunohistochemistry (IHC) in 90 melanoma samples, with a focus on a challenging cohort of 32 positive sentinel lymph nodes. The <i>BRAF</i> status was assessed with both methods independently of the percentage of tumor cells. The concordance rate was calculated excluding both non-contributory analyses and <i>BRAF</i><i>V600K/R/M</i> mutants due to the specific V600E-IHC test design. The incidence of the <i>BRAF</i><i>V600E</i> mutation was 33% with both <i>BRAF</i> Idylla and <i>BRAF</i> IHC. The agreement rate was 91% (72/79). Although the agreement rate was high, we suggest that the use of IHC is more suitable for rapid <i>BRAF</i> testing on sentinel lymph node biopsies when associated with a low percentage and scattered tumor cells, which gave a high risk of non-contributory analysis and/or false negative results with the Idylla<sup>TM</sup><i>BRAF</i> Mutation Test.
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spelling doaj.art-c45daa640a564eeda293675f6eb69b782023-11-30T20:59:15ZengMDPI AGDiagnostics2075-44182022-03-0112375110.3390/diagnostics12030751Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph NodesElodie Long-Mira0Alexandra Picard-Gauci1Sandra Lassalle2Véronique Hofman3Salomé Lalvée4Virginie Tanga5Katia Zahaf6Christelle Bonnetaud7Virginie Lespinet8Olivier Camuzard9Henri Montaudié10Gilles Poissonnet11Thierry Passeron12Marius Ilié13Paul Hofman14CHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, Department of Dermatology, Archet Hospital, Université Côte d’Azur, 06200 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceDepartment of Plastic and Reconstructive Surgery, Institut Universitaire Locomoteur & Sport (iULS), Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, Department of Dermatology, Archet Hospital, Université Côte d’Azur, 06200 Nice, FranceCentre Antoine Lacassagne, Cervico-Facial Surgery Department, 06100 Nice, FranceCHU Nice, Department of Dermatology, Archet Hospital, Université Côte d’Azur, 06200 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceCHU Nice, FHU OncoAge, Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d’Azur, 06000 Nice, FranceTesting for the <i>BRAF</i> mutation is mandatory for the management of patients with locally advanced or metastatic melanoma. Molecular analysis based on DNA sequencing remains the gold-standard method for the screening of the different <i>BRAF</i> mutations. These methods must be rapid, sensitive, and specific enough to allow optimal therapeutic management in daily practice and also to include patients in clinical trials. Here, we compared the Idylla <i>BRAF</i> Mutation Test and the anti-<i>BRAF V600E</i> (clone VE1) immunohistochemistry (IHC) in 90 melanoma samples, with a focus on a challenging cohort of 32 positive sentinel lymph nodes. The <i>BRAF</i> status was assessed with both methods independently of the percentage of tumor cells. The concordance rate was calculated excluding both non-contributory analyses and <i>BRAF</i><i>V600K/R/M</i> mutants due to the specific V600E-IHC test design. The incidence of the <i>BRAF</i><i>V600E</i> mutation was 33% with both <i>BRAF</i> Idylla and <i>BRAF</i> IHC. The agreement rate was 91% (72/79). Although the agreement rate was high, we suggest that the use of IHC is more suitable for rapid <i>BRAF</i> testing on sentinel lymph node biopsies when associated with a low percentage and scattered tumor cells, which gave a high risk of non-contributory analysis and/or false negative results with the Idylla<sup>TM</sup><i>BRAF</i> Mutation Test.https://www.mdpi.com/2075-4418/12/3/751metastatic melanoma<i>BRAF</i>RT-PCRsentinel lymph nodeimmunohistochemistry
spellingShingle Elodie Long-Mira
Alexandra Picard-Gauci
Sandra Lassalle
Véronique Hofman
Salomé Lalvée
Virginie Tanga
Katia Zahaf
Christelle Bonnetaud
Virginie Lespinet
Olivier Camuzard
Henri Montaudié
Gilles Poissonnet
Thierry Passeron
Marius Ilié
Paul Hofman
Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
Diagnostics
metastatic melanoma
<i>BRAF</i>
RT-PCR
sentinel lymph node
immunohistochemistry
title Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
title_full Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
title_fullStr Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
title_full_unstemmed Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
title_short Comparison of Two Rapid Assays for the Detection of <i>BRAF</i> V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes
title_sort comparison of two rapid assays for the detection of i braf i v600 mutations in metastatic melanoma including positive sentinel lymph nodes
topic metastatic melanoma
<i>BRAF</i>
RT-PCR
sentinel lymph node
immunohistochemistry
url https://www.mdpi.com/2075-4418/12/3/751
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