ArticleJournal of neuro-oncology2016
Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.
Article in Journal of neuro-oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 81 citations in OpenAlex.
- Circumscribed Meningeal Melanocytic Neoplasms: CNS WHO Grade, Molecular Profile, and Clinical Outcomes.Brain pathology (Zurich, Switzerland) · 2026Article
- Pigmented Peril: A fatal case of Primary intracranial melanoma in a paediatric patient.Radiology case reports · 2025Article
- Freiburg Neuropathology Case Conference: Gait Ataxia, Segmental Hypoesthesia, and Combined Incontinence in a 57-Years-Old Patient.Clinical neuroradiology · 2025Article
- [WHO classification of melanocytic tumours].Dermatologie (Heidelberg, Germany) · 2025Review
- Systems modeling of oncogenic G-protein and GPCR signaling reveals unexpected differences in downstream pathway activation.NPJ systems biology and applications · 2024Article
- Review
- Protein and mRNA Expression in Uveal Melanoma Cell Lines Are Related to GNA and BAP1 Mutation Status.Investigative ophthalmology & visual science · 2024Article
- Deep-Learning Model for Tumor-Type Prediction Using Targeted Clinical Genomic Sequencing Data.Cancer discovery · 2024Article
- Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis.Acta neuropathologica communications · 2024Article
- [Histological and molecular characteristics of tumours of the peripheral nervous system].Pathologie (Heidelberg, Germany) · 2023Article
- Genetic and methylation profiles distinguish benign, malignant and spitzoid melanocytic tumors.International journal of cancer · 2022Article
- Genetic and Methylation Analysis of CTNNB1 in Benign and Malignant Melanocytic Lesions.Cancers · 2022Article
- The Prognostic Relevance of PMCA4 Expression in Melanoma: Gender Specificity and Implications for Immune Checkpoint Inhibition.International journal of molecular sciences · 2022Article
- TERT promoter mutations are associated with longer progression-free and overall survival in patients with BRAF-mutant melanoma receiving BRAF and MEK inhibitor therapy.European journal of cancer (Oxford, England : 1990) · 2022Article
- Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Primary Melanocytomas of the Spinal Cord: Case Studies and Rehabilitation Perspectives.Archives of rehabilitation research and clinical translation · 2021Article
- Molecular pathology as a diagnostic aid in difficult-to-classify melanocytic tumours with spitzoid morphology.European journal of cancer (Oxford, England : 1990) · 2021Article
- Article
- Article
- Frequent Occurrence ofCancers · 2019Article
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 5 countries.
Funding
Abstract
Melanocytic tumors originating in the central nervous system (MT-CNS) are rare tumors that generally have a favorable prognosis, however malignant tumors do occur. Pathogenetically MT-CNS are not well characterized. Similar to uveal melanoma and blue nevi, they frequently harbor activating GNAQ or GNA11 mutations. Rare NRAS mutations have also been reported. Other mutations have not yet been described. We analyzed 19 MT-CNS, 7 uveal melanomas and 19 cutaneous melanomas using a targeted next generation sequencing approach analyzing 29 genes known to be frequently mutated in other melanocytic tumors (in particular uveal and cutaneous melanomas). In concordance with previous studies, cutaneous melanoma samples showed frequent NRAS or BRAF mutations, as well as mutations in other genes (e.g. NF1, RAC1, PIK3CA, ARID1A). Metastasized uveal melanomas exhibited mutations in GNAQ, GNA11 and BAP1. In contrast, MT-CNS almost exclusively demonstrated mutations in GNAQ (71 %) or GNA11 (12 %). Interestingly both GNA11 mutations identified were detected in MT-CNS diagnosed as intermediate grade melanocytomas which also recurred. One of these recurrent cases also harbored an inactivating BAP1 mutation and was found to have lost one copy of chromosome 3. Our findings show that while MT-CNS do have GNAQ or GNA11 mutations, they rarely harbor other recurrent mutations found in uveal or cutaneous melanomas. Considering chromosome 3 and BAP1 loss are robust markers of poor prognosis in uveal melanoma, it will prove interesting to determine whether these genomic alterations are also of prognostic significance in MT-CNS.
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Registered trials
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