NF1 mutations in conjunctival melanoma
Please always quote using this URN: urn:nbn:de:bvb:20-opus-233329
- Background
Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood.
Methods
A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with patient prognosis.
Results
Frequent mutations in genes activating the MAP kinase pathway were identified.Background
Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood.
Methods
A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with patient prognosis.
Results
Frequent mutations in genes activating the MAP kinase pathway were identified. NF1 mutations were most frequent (n = 21, 33%). Recurrent activating mutations were also identified in BRAF (n = 16, 25%) and RAS genes (n = 12, 19%; 11 NRAS and 1 KRAS).
Conclusions
Similar to cutaneous melanomas, conjunctival melanomas can be grouped genetically into four groups: BRAF-mutated, RAS-mutated, NF1-mutated and triple wild-type melanomas. This genetic classification may be useful for assessment of therapeutic options for patients with metastatic conjunctival melanoma…
Author: | S. L. Scholz, I. Cosgarea, D. Süßkind, R. Murali, I. Möller, H. Reis, S. Leonardelli, B. Schilling, T. Schimming, E. Hadaschik, C. Franklin, A. Paschen, A. Sucker, K. P. Steuhl, D. Schadendorf, H. Westekemper, K. G. Griewank |
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URN: | urn:nbn:de:bvb:20-opus-233329 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie |
Language: | English |
Parent Title (English): | British Journal of Cancer |
Year of Completion: | 2018 |
Volume: | 118 |
Pagenumber: | 1243-1247 |
Source: | British Journal of Cancer (2018) 118:1243–1247. https://doi.org/10.1038/s41416-018-0046-5 |
DOI: | https://doi.org/10.1038/s41416-018-0046-5 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | cancer genetics; eye cancer |
Release Date: | 2024/07/18 |
EU-Project number / Contract (GA) number: | 641458 |
OpenAIRE: | OpenAIRE |
Licence (German): | ![]() |