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Background <p>Nodular melanoma (NM) is considered one of the most aggressive forms of skin cancer, accounting for approximately 10–15% of all melanoma cases. It tends to grow quickly and spread deeper into the skin’s layers, providing fewer opportunities for early detection. NM often carries a poor prognosis due to local invasion and frequent distant metastases. BRAF mutations are frequently found in melanoma, with the most common mutation being a single-point mutation at codon 600 (typically V600E).</p> Case Presentation <p>We report a case of aggressive jugal nodular melanoma harboring an unusual BRAF mutation, C. 1789_1790 CT&gt;TC.</p> Methods <p>Genomic DNA was extracted from formalin-fixed paraffin-embedded (FFPE) tumor tissue. Sanger sequencing was employed to analyze exon 15 of the BRAF gene. The mutation was validated by bidirectional sequencing and interpreted using reference databases.</p> Results <p>The identified BRAF mutation, c.1789_1790CT&gt;TC, has been rarely reported in the literature. It results in a non-canonical amino acid substitution, potentially affecting kinase activity and therapeutic response.</p> Conclusion <p>This case underscores the clinical and molecular heterogeneity of nodular melanoma and highlights the importance of comprehensive BRAF mutation screening beyond the common V600E variant.</p>

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Aggressive nodular melanoma: case report with an unusual BRAF mutation

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Sanae EL Bardai,
  • Fatima EL Agy,
  • Fatima Zahra Mernissi,
  • Dounia Kamal,
  • Layla Tahiri Elousrouti,
  • Laila Chbani,
  • Nawal Hammas

摘要

Background

Nodular melanoma (NM) is considered one of the most aggressive forms of skin cancer, accounting for approximately 10–15% of all melanoma cases. It tends to grow quickly and spread deeper into the skin’s layers, providing fewer opportunities for early detection. NM often carries a poor prognosis due to local invasion and frequent distant metastases. BRAF mutations are frequently found in melanoma, with the most common mutation being a single-point mutation at codon 600 (typically V600E).

Case Presentation

We report a case of aggressive jugal nodular melanoma harboring an unusual BRAF mutation, C. 1789_1790 CT>TC.

Methods

Genomic DNA was extracted from formalin-fixed paraffin-embedded (FFPE) tumor tissue. Sanger sequencing was employed to analyze exon 15 of the BRAF gene. The mutation was validated by bidirectional sequencing and interpreted using reference databases.

Results

The identified BRAF mutation, c.1789_1790CT>TC, has been rarely reported in the literature. It results in a non-canonical amino acid substitution, potentially affecting kinase activity and therapeutic response.

Conclusion

This case underscores the clinical and molecular heterogeneity of nodular melanoma and highlights the importance of comprehensive BRAF mutation screening beyond the common V600E variant.