Scholz, et al. – Summary

Scholz SL, Cosgarea I, Süßkind D, Murali R, Möller I, Reis H, Leonardelli S, Schilling B, Schimming T, Hadaschik E, Franklin C, Paschen A, Sucker A, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG. NF1 mutations in conjunctival melanoma. Br J Cancer. 2018 May;118(9):1243-1247. Available at: https://www.nature.com/articles/s41416-018-0046-5


Conjunctival melanoma is a potentially deadly eye tumor. Despite effective local therapies, tumor recurrence and metastasis are frequent. In this study we aimed to understand the genetic background of this tumor type in order to determine therapeutic options for patients with metastatic disease. We screened a large cohort of conjunctival melanomas (n=63) to look at mutations known to be important in other melanoma subtypes. We found NF1 mutations to be most frequent (33%). Moreover, activating mutations in genes activating the MAP kinase pathway were frequently identified, BRAF (25%) and RAS genes (19%). Thus, similar to cutaneous melanomas, conjunctival melanomas can be grouped genetically into four groups: BRAF-mutated, RAS-mutated, NF1-mutated and triple wild-type melanomas which might be helpful in deciding therapeutic options for patients.

Led by researchers in Essen, it involved the MELGEN student Sonia Leonardelli and colleagues from different research groups in Germany and USA.


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