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Updated: Feb 14, 2026
08:18
Analysis of Lymph Node Volume by Ultra-High-Frequency Ultrasound Imaging in the Braf/Pten Genetically Engineered Mouse Model of Melanoma
Published on: September 8, 2021
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Novel BRAF mutation in melanoma: A case report.
Serena Trubini1, Alessandro Ubiali1, Carlo Terenzio Paties1
1Onco-Hematologic Department, Ospedale Guglielmo da Saliceto, I-49-29121 Piacenza, Italy.
Molecular and Clinical Oncology
|February 20, 2018
Summary
A rare BRAF gene mutation (T599insT) was found in metastatic melanoma. This specific BRAF mutation may lead to constant protein activation, but its impact on targeted therapy requires further study.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Melanoma tumorigenesis involves specific genetic and genomic aberrations.
- The B-Raf proto-oncogene, Serine/Threonine kinase (BRAF) gene mutations are key targets for kinase inhibitor therapies.
- Identifying diverse BRAF mutations aids in profiling melanoma tumors for treatment decisions.
Purpose of the Study:
- To report the detection of a rare BRAF gene mutation in a patient with metastatic melanoma.
- To discuss the potential implications of this mutation on BRAF protein activation and targeted therapy.
Main Methods:
- Direct (Sanger) sequencing and pyrosequencing techniques were employed.
- Genetic analysis was performed on a metastatic melanoma sample.
Main Results:
- A rare aminoacidic insertion in codon 599 of the BRAF gene (c.1797_1798insACA, T599insT) was identified.
- This mutation may lead to constitutive activation of the BRAF protein due to altered P-loop structure.
Conclusions:
- The identified rare BRAF mutation (T599insT) may constitutively activate the BRAF protein.
- Further investigation is needed to understand the response of melanoma patients with rare BRAF mutations to BRAF inhibitors, as comparable data is currently lacking.
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