Novel BRAF mutation in melanoma: A case report

  • Authors:
    • Serena Trubini
    • Alessandro Ubiali
    • Carlo Terenzio Paties
    • Luigi Cavanna
  • View Affiliations

  • Published online on: January 12, 2018     https://doi.org/10.3892/mco.2018.1555
  • Pages:460-462
Metrics: HTML 0 views | PDF 0 views     Cited By (CrossRef): 0 citations

Abstract

In melanoma, a number of specific genetic and genomic aberrations have been identified to be important in tumorigenesis. In particular, the mutant B‑Raf proto‑oncogene, Serine/Threonine kinase (BRAF) gene is the target of tailored therapy with kinase inhibitor molecules. Identification of the array of mutations in patients with melanoma will be useful in determining a genetic profile of the tumor with potential implications for treatment decisions. A rare aminoacidic insertion in codon 599 of the BRAF gene (c.1797_1798insACA, T599insT) was detected by using both direct (Sanger) sequencing and pyrosequencing techniques in a metastatic melanoma of a female elderly patient. As suggested in other clinical contexts including pilocytic astrocytoma, papillary thyroid carcinomas and anaplastic thyroid carcinomas, this unusual mutation may be associated with a modified spatial structure of activated P‑loop, resulting in a constitutional activation of the BRAF protein. The patient died shortly following the test, thus no biological therapy was performed. Comparable data regarding treatment of melanoma patients with rare BRAF mutations is lacking, and the response to BRAF inhibitors requires further investigation.

Related Articles

Journal Cover

March 2018
Volume 8 Issue 3

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

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
APA
Trubini, S., Ubiali, A., Paties, C.T., & Cavanna, L. (2018). Novel BRAF mutation in melanoma: A case report. Molecular and Clinical Oncology, 8, 460-462. https://doi.org/10.3892/mco.2018.1555
MLA
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8.3 (2018): 460-462.
Chicago
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8, no. 3 (2018): 460-462. https://doi.org/10.3892/mco.2018.1555