Journal
ONCOTARGET
Volume 8, Issue 25, Pages 40683-40692Publisher
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.16542
Keywords
mucosal melanoma; NF1; RAS; sequencing; melanoma
Categories
Funding
- Deutsche Stiftung Dermatologie (Stipendium Forderung der Dermatohistologie)
- Deutsche Forschungsgemeinschaft [DFG3671/1-3]
- Deutsche Krebshilfe [70111402]
- Hiege-Stiftung gegen Hautkrebs
- Monika Kutzner Stiftung
Ask authors/readers for more resources
Purpose: Mucosal melanoma represents similar to 1% of all melanomas, frequently having a poor prognosis due to diagnosis at a late stage of disease. Mucosal melanoma differs from cutaneous melanoma not only in terms of poorer clinical outcome but also on the molecular level having e. g. less BRAF and more frequent KIT mutations than cutaneous melanomas. For the majority of mucosal melanomas oncogenic driver mutations remain unknown. Experimental Design and Results: In our study, 75 tumor tissues from patients diagnosed with mucosal melanoma were analyzed, applying a targeted next generation sequencing panel covering 29 known recurrently mutated genes in melanoma. NF1 and RAS mutations were identified as the most frequently mutated genes occurring in 18.3% and 16.9% of samples, respectively. Mutations in BRAF were identified in 8.4% and KIT in 7.0% of tumor samples. Conclusions: Our study identifies NF1 as the most frequently occurring driver mutation in mucosal melanoma. RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type. BRAF and KIT mutations were rare with frequencies below 10% each. Our data indicate that in mucosal melanomas RAS/ NF1 alterations are frequent, implying a significant pathogenetic role for MAPK and potentially PI3K pathway activation in these tumors.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available