The incidence of KIT mutation was significantly higher in older individuals (OR=1.296, 95% CI: 1.025-1.641; P=0.031), and showed a positive association with mucosal melanoma (OR=1.363, 95% CI: 1.094-1.697; P=0.006), acral melanoma (OR=1.374, 95% CI: 1.123-1.682; P=0.02), and CSD (OR=1.880, 95% CI: 1.127-3.136; P=0.016), but a negative relationship with melanomas arising in non-CSD skin (OR=0.562, 95% CI: 0.392-0.805; P=0.002).
The acral/mucosal melanoma subtype is characterized by aberrant and constitutive activation of the proto-oncogene receptor tyrosine kinase C-KIT, which drives tumorigenesis.
We used next-generation sequencing of circulating cell-free DNA (cfDNA) to monitor the response of a KITp.L576P-mutant metastatic vaginal mucosal melanoma to sequential targeted, immuno- and chemotherapy.
The objective of this study was to analyse the clinical and histological features, as well as the mutational status of c-kit and b-raf gene of mucosal melanoma in any localization in a French series.
The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma but entirely distinct from uveal melanoma.
In acral melanoma, BRAF, C-KIT, and NRAS mutations were all independent prognostic factors of worse overall survival (all <i>P</i> < 0.001), whereas in mucosal melanoma, only C-KIT was (<i>P</i> = 0.006).
Significantly mutated genes included BRAF, CDKN2A, NRAS and TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma.
The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma but entirely distinct from uveal melanoma.
This is the first report of SF3B1 R625 mutations in vulvovaginal mucosal melanoma, with the largest whole-exome sequencing project of mucosal melanomas to date.