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Updated: Apr 11, 2026

Analysis of Lymph Node Volume by Ultra-High-Frequency Ultrasound Imaging in the Braf/Pten Genetically Engineered Mouse Model of Melanoma

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BRAF mutation screening in melanoma: is sentinel lymph node reliable?

Charlée Nardin¹, Eve Puzenat, Jean Luc Prétet

¹aUniversity of Franche-Comté bDepartment of Pathology cDepartment of Dermatology dDepartment of Cellular and Molecular Biology eBiostatistics, Centre Hospitalier Universitaire fEA3181, SFR FED4234 gInserm CIC 1431, Besançon hDepartment of Digestive and Oncological Surgery, Centre Hospitalier Universitaire, Dijon, France.

Melanoma Research

|May 29, 2015

Summary

Accurate BRAF mutation testing is crucial for melanoma treatment. While intrapatient BRAF status is mostly consistent across primary and metastatic sites, sentinel lymph node (SLN) testing may be unreliable.

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Area of Science:

Oncology
Genetics
Molecular Diagnostics

Background:

BRAF V600E mutation detection significantly impacts advanced melanoma treatment decisions.
Conflicting results exist regarding BRAF oncogene mutation status consistency across different patient samples.
Accurate intrapatient BRAF mutation status is essential for effective melanoma management.

Purpose of the Study:

To investigate the intrapatient homogeneity of BRAF mutation status in primary melanoma tumors and various metastatic sites.
To evaluate the reliability of pyrosequencing for detecting BRAF mutations in melanoma patient samples.
To assess potential discrepancies in BRAF mutation status between primary tumors and metastatic lesions, including sentinel lymph nodes.

Main Methods:

Collected paired samples from 45 metastatic melanoma patients, including primary tumors and lymphatic, visceral, and subcutaneous metastases.
Utilized pyrosequencing and Sanger sequencing to test 114 paired samples for BRAF mutations.
Analyzed BRAF mutation status concordance and discordance across different sample types within individual patients.

Main Results:

Eighteen patients (40%) harbored BRAF mutations (V600E, V600K, V600R), with one patient exhibiting multiple mutations.
A high agreement (91%) in BRAF mutation status was observed between initial and subsequent tumor sample genotyping (Cohen's κ = 0.81).
Discordance was noted in four patients, specifically involving sentinel lymph nodes (SLNs) with wild-type genotypes, contrasting with other mutated samples from the same patient.

Conclusions:

Intrapatient BRAF mutation status in melanoma is predominantly homogeneous across primary and metastatic sites.
Sentinel lymph node (SLN) genotyping via pyrosequencing may yield inaccurate BRAF mutation status results in melanoma.
Further research is necessary to confirm the potential unreliability of SLN analysis for BRAF mutation detection in melanoma.