Open Access

Immunohistochemistry as an accurate tool for the assessment of BRAF V600E and TP53 mutations in primary and metastatic melanoma

  • Authors:
    • Stefan Rusu
    • Camille Verocq
    • Anne Laure Trepant
    • Calliope Maris
    • Nancy De Nève
    • Oriane Blanchard
    • Claude Van Campenhout
    • Sarah De Clercq
    • Sandrine Rorive
    • Ovidiu Simion Cotoi
    • Christine Decaestecker
    • Isabelle Salmon
    • Nicky D'Haene
  • View Affiliations

  • Published online on: November 1, 2021     https://doi.org/10.3892/mco.2021.2432
  • Article Number: 270
  • Copyright: © Rusu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Metastatic melanoma is a fatal disease with poor prognosis. Ever since targeted therapy against oncogenic BRAF was approved, molecular profiling has become an integral part of the management of such patients. While molecular testing is not available in all pathology laboratories, immunohistochemistry (IHC) is a reliable screening option. The major objective of the present study was to evaluate whether IHC detection of BRAF and the tumor (suppressor) protein 53 gene (TP53) are reliable surrogates for mutation detection. Formalin‑fixed paraffin‑embedded samples of melanomas for which molecular data were previously obtained by targeted next‑generation sequencing (NGS) between January 2014 and February 2019 were immunostained with BRAF V600E and p53 antibodies. A blinded evaluation of the IHC slides was performed by two pathologists in order to evaluate inter‑observer concordance (discordant cases were reviewed by a third observer). The associations between the results of IHC and molecular profiling were evaluated. The study included a series of 37 cases of which 15 harbored a BRAF mutation and five a TP53 mutation. IHC had an overall diagnostic accuracy of 93.9% for BRAF V600E and 68.8% for TP53 compared to NGS. A statistically significant association between the two diagnostic methods was obtained for BRAF V600E (P=0.0004) but not for p53 (P=0.3098) IHC. The κ coefficient for IHC assessment of p53 was 0.55 and that for BRAF V600E was 0.72. In conclusion, the present results evidenced that IHC staining is a reliable surrogate for NGS in identifying the BRAF V600E mutation, which may become an efficient screening tool. Aberrant expression of p53 on IHC is at times associated with TP53 mutations but it was not possible to establish a direct link.
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December-2021
Volume 15 Issue 6

Print ISSN: 2049-9450
Online ISSN:2049-9469

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Spandidos Publications style
Rusu S, Verocq C, Trepant AL, Maris C, De Nève N, Blanchard O, Van Campenhout C, De Clercq S, Rorive S, Cotoi OS, Cotoi OS, et al: Immunohistochemistry as an accurate tool for the assessment of <em>BRAF V600E</em> and <em>TP53</em> mutations in primary and metastatic melanoma. Mol Clin Oncol 15: 270, 2021.
APA
Rusu, S., Verocq, C., Trepant, A.L., Maris, C., De Nève, N., Blanchard, O. ... D'Haene, N. (2021). Immunohistochemistry as an accurate tool for the assessment of <em>BRAF V600E</em> and <em>TP53</em> mutations in primary and metastatic melanoma. Molecular and Clinical Oncology, 15, 270. https://doi.org/10.3892/mco.2021.2432
MLA
Rusu, S., Verocq, C., Trepant, A. L., Maris, C., De Nève, N., Blanchard, O., Van Campenhout, C., De Clercq, S., Rorive, S., Cotoi, O. S., Decaestecker, C., Salmon, I., D'Haene, N."Immunohistochemistry as an accurate tool for the assessment of <em>BRAF V600E</em> and <em>TP53</em> mutations in primary and metastatic melanoma". Molecular and Clinical Oncology 15.6 (2021): 270.
Chicago
Rusu, S., Verocq, C., Trepant, A. L., Maris, C., De Nève, N., Blanchard, O., Van Campenhout, C., De Clercq, S., Rorive, S., Cotoi, O. S., Decaestecker, C., Salmon, I., D'Haene, N."Immunohistochemistry as an accurate tool for the assessment of <em>BRAF V600E</em> and <em>TP53</em> mutations in primary and metastatic melanoma". Molecular and Clinical Oncology 15, no. 6 (2021): 270. https://doi.org/10.3892/mco.2021.2432