ArticlePathology oncology research : POR2015
Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms.
Article in Pathology oncology research : POR, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Molecular heterogeneity and prognostic biomarkers in primary meningeal melanocytic tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.Cancers · 2024Review
- Review
- Article
- 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
- Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.BMJ case reports · 2021Article
- Combined Inhibition of GαClinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- New and evolving concepts of melanocytic nevi and melanocytomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Review
- Article
- GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.Ophthalmology · 2019Article
- Atypical activation of the G protein GαThe Journal of biological chemistry · 2018Article
- Activating CYSLTR2 and PLCB4 Mutations in Primary Leptomeningeal Melanocytic Tumors.The Journal of investigative dermatology · 2017Article
- A rare case of leptomeningeal carcinomatosis in a patient with uveal melanoma: case report and review of literature.Melanoma research · 2016Review
- Diagnosing a Primary Leptomeningeal Melanoma by Gene Mutation Signature.The Journal of investigative dermatology · 2016Article
- Primary Melanoma of the Leptomeninges with BAP1 Expression-Loss in the Setting of a Nevus of Ota: A Clinical, Morphological and Genetic Study of 2 Cases.Brain pathology (Zurich, Switzerland) · 2016Article
- Minimal contribution of ERK1/2-MAPK signalling towards the maintenance of oncogenic GNAQQ209P-driven uveal melanomas in zebrafish.Oncotarget · 2016Article
- Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.Journal of neuro-oncology · 2016Article
- Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas.Ocular oncology and pathology · 2016Article
- SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.Acta neuropathologica communications · 2016Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limited data is available on the genetic features of primary leptomeningeal melanocytic neoplasms (LMNs). Similarities with uveal melanoma were recently suggested as both entities harbor oncogenic mutations in GNAQ and GNA11. Whether primary LMNs share additional genetic alterations with uveal melanoma including copy number variations is unknown. Twenty primary LMNs ranging from benign and intermediate-grade melanocytomas to melanomas were tested by direct sequencing for hotspot mutations in the genes GNA11, GNAQ, BRAF, NRAS and HRAS. Furthermore, the lesions were tested for copy number variations of chromosomes frequently present in uveal melanoma (1p, 3, 6 and 8q) by multiplex ligation-dependent probe amplification (MLPA). Genome-wide analyses of copy number alterations of two leptomeningeal melanocytic neoplasms were performed using the OncoScan SNP-array. GNAQ(Q209) mutations were present in eleven LMNs, while two of 20 cases carried a GNA11(Q209) mutation. No BRAF, HRAS or NRAS hotspot mutations were detected. Monosomy 3 and gain of 8q were present in one leptomeningeal melanoma, and one intermediate-grade melanocytoma harbored a gain of chromosome 6. With MLPA, the melanocytomas did not show any further gross chromosomal variations. Our data shows that primary LMNs, like uveal melanoma, harbor oncogenic mutations in GNAQ and GNA11 but lack mutations in BRAF, NRAS and HRAS. This finding may help in the differential diagnosis between a primary LMN and a metastasis from a cutaneous melanoma to the central nervous system. Copy number variations in some aggressive LMNs resemble those present in uveal melanoma but their prognostic significance is unclear.
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