Aggressive nodular melanoma: case report with an unusual BRAF mutation

Area of Science:

• Oncology
• Dermatology
• Genetics

Background:

• Nodular melanoma (NM) is an aggressive skin cancer with a poor prognosis.
• NM accounts for 10-15% of melanoma cases, characterized by rapid growth and deep invasion.
• BRAF mutations, particularly V600E, are common in melanoma.

Purpose of the Study:

• To report a rare case of aggressive jugal nodular melanoma.
• To characterize an unusual BRAF mutation (c.1789_1790CT>TC) in this aggressive melanoma.
• To emphasize the importance of broad BRAF mutation screening in nodular melanoma.

Main Methods:

• Genomic DNA extraction from formalin-fixed paraffin-embedded (FFPE) tumor tissue.
• Sanger sequencing of BRAF gene exon 15.
• Validation of the mutation using bidirectional sequencing and database interpretation.

Main Results:

• Identification of a rare BRAF mutation, c.1789_1790CT>TC, in aggressive jugal nodular melanoma.
• The mutation leads to a non-canonical amino acid substitution.
• This rare mutation may impact kinase activity and treatment outcomes.

Conclusions:

• This case highlights the molecular heterogeneity of nodular melanoma.
• Comprehensive BRAF mutation analysis is essential, extending beyond common variants like V600E.
• Understanding rare mutations is key for personalized melanoma therapy.