ArticleActa neuropathologica2010
Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system.
Article in Acta neuropathologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 152 citations in OpenAlex.
- EANO guideline on the diagnosis and treatment of vestibular schwannoma.Neuro-oncology · 2020Guideline
- Circumscribed Meningeal Melanocytic Neoplasms: CNS WHO Grade, Molecular Profile, and Clinical Outcomes.Brain pathology (Zurich, Switzerland) · 2026Article
- Primary intradural intramedullary melanocytoma of the spinal cord: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- Benign or aggressive? Understanding spinal melanocytomas in comparison to malignant melanoma.Journal of neuro-oncology · 2025Article
- Primary Intramedullary Spinal Melanocytomas: Case Report and Review of Clinical Features, Diagnosis, and Management.Journal of clinical medicine · 2025Review
- GNAQ mutation in primary spinal melanoma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Intramedullary primary spinal cord melanoma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.Cancer research communications · 2025Article
- Clinical benefit with tebentafusp in a patient with GNAQ mutant metastatic blue nevus-associated melanoma.Journal for immunotherapy of cancer · 2024Article
- Review
- Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature.Diagnostic pathology · 2024Review
- 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
- An Update of G-Protein-Coupled Receptor Signaling and Its Deregulation in Gastric Carcinogenesis.Cancers · 2023Review
- Meningioma and Other Meningeal Tumors.Advances in experimental medicine and biology · 2023Article
- Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.Acta neurochirurgica · 2022Article
- Article
- Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Uveal Melanoma Metastasis.Cancers · 2021Review
- SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research.iScience · 2021Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary melanocytic neoplasms of the central nervous system (CNS) are uncommon neoplasms derived from melanocytes that normally can be found in the leptomeninges. They cover a spectrum of malignancy grades ranging from low-grade melanocytomas to lesions of intermediate malignancy and overtly malignant melanomas. Characteristic genetic alterations in this group of neoplasms have not yet been identified. Using direct sequencing, we investigated 19 primary melanocytic lesions of the CNS (12 melanocytomas, 3 intermediate-grade melanocytomas, and 4 melanomas) for hotspot oncogenic mutations commonly found in melanocytic tumors of the skin (BRAF, NRAS, and HRAS genes) and uvea (GNAQ gene). Somatic mutations in the GNAQ gene at codon 209, resulting in constitutive activation of GNAQ, were detected in 7/19 (37%) tumors, including 6/12 melanocytomas, 0/3 intermediate-grade melanocytomas, and 1/4 melanomas. These GNAQ-mutated tumors were predominantly located around the spinal cord (6/7). One melanoma carried a BRAF point mutation that is frequently found in cutaneous melanomas (c.1799 T>A, p.V600E), raising the question whether this is a metastatic rather than a primary tumor. No HRAS or NRAS mutations were detected. We conclude that somatic mutations in the GNAQ gene at codon 209 are a frequent event in primary melanocytic neoplasms of the CNS. This finding provides new insight in the pathogenesis of these lesions and suggests that GNAQ-dependent mitogen-activated kinase signaling is a promising therapeutic target in these tumors. The prognostic and predictive value of GNAQ mutations in primary melanocytic lesions of the CNS needs to be determined in future studies.
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