Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas

The cover for issue 9 of Oncotarget features Figure 3, "Kaplan–Meier curves showing the survival outcomes of mucosal melanoma patients," by Quek, et al.

Recurrent SF3B1 p.R625 hotspot mutations were exclusively detected in vulvovaginal and anorectal melanomas.

The only other SF3B1 mutation was a p.C1123Y mutation that occurred in a conjunctival mucosal melanoma.

Conclusion: Molecular subgroups of mucosal melanoma with SF3B1 mutations occurred predominantly in the vulvovaginal region.

Figure 3: Kaplan–Meier curves showing the survival outcomes of mucosal melanoma patients. Comparison of overall survival (A) and progression-free survival (B) in patients with mutated SF3B1 and non-SF3B1 mutation group.

"Mucosal melanoma is a rare subtype of melanoma that originates from melanocytes in the epithelial lining of the conjunctiva, respiratory, alimentary, and genitourinary tracts."

Mucosal melanoma occurs at sites that are not easily amenable to clinical inspection, patients with mucosal melanoma frequently present with advanced-stage disease often with regional and/or distant metastases, and their prognosis is generally poor.

In contrast to cutaneous melanomas that are typically associated with exogenous and endogenous risk factors, there are no clear risk factors for mucosal melanomas, and the molecular pathogenesis of mucosal melanoma is not well defined.

"In summary, we discovered a SF3B1 C1123Y mutation in a conjunctival mucosal melanoma, and a recurrent SF3B1 R625 mutation, which predominantly occurred in female genital tract mucosal melanomas."

Full text - https://doi.org/10.18632/oncotarget.26584

Correspondence to - James S. Wilmott - [email protected]

Keywords - spliceosome, mucosal melanoma, SF3B1, hotspot mutation, targeted sequencing