Resident Program - Case of the Month

October 2022 – Presented by Dr. Anupam Mitra (Mentored by Dr. Morgan Darrow)

Reveal

Unlike cutaneous melanoma, BRAF mutation is rare in mucosal melanoma (MM). CKIT (CD117) and SF3B1 mutations are the most common mutations seen in MM. Meta-analysis has shown that MM involving the upper region of the body (oral cavity, nasal cavity and upper gastrointestinal tract) has more CKIT mutation followed by NRAS, whereas MM involving the lower region of the body (lower gastrointestinal tract, anorecta, and genital) has more SF3B1 mutation followed by NF1 mutation.

References

1. Nassar KW, Tan AC. The mutational landscape of mucosal melanoma. Semin Cancer Biol. 2020 Apr;61:139-148.
2. Topić B et al: Primary oral mucosal melanomas - two case reports and comprehensive literature review. Acta Clin Croat. 56(2):323-30, 2017
3. Beadling C et al: KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res. 14(21):6821-8, 2008
4. https://app.expertpath.com/document/mucosal-melanoma-oral-cavity/6e8f33eb-1124-4bf9-b794-76b5ddfc506a?searchTerm=mucosal%20melanoma