ArticleActa neuropathologica communications2016
SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.
Article in Acta neuropathologica communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 45 citations in OpenAlex.
- Enhancement of the leptomeninges in a young man.Brain pathology (Zurich, Switzerland) · 2026Article
- Circumscribed Meningeal Melanocytic Neoplasms: CNS WHO Grade, Molecular Profile, and Clinical Outcomes.Brain pathology (Zurich, Switzerland) · 2026Article
- Molecular heterogeneity and prognostic biomarkers in primary meningeal melanocytic tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- Deciphering the role of alternative splicing in neoplastic diseases for immune-oncological therapies.Frontiers in immunology · 2024Review
- The role of alternative pre-mRNA splicing in cancer progression.Cancer cell international · 2023Review
- Genetics and RNA Regulation of Uveal Melanoma.Cancers · 2023Review
- How Should We Treat Meningeal Melanocytoma? A Retrospective Analysis of Potential Treatment Strategies.Cancers · 2022Article
- Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Review
- Case Report: Differential Genomics and Evolution of a Meningeal Melanoma Treated With Ipilimumab and Nivolumab.Frontiers in oncology · 2021Article
- The biological function and clinical significance of SF3B1 mutations in cancer.Biomarker research · 2020Review
- Melanocytoma of the Conjunctiva: Clinicopathologic Features of Three Cases.Ocular oncology and pathology · 2019Article
- Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.BMC cancer · 2018Article
- GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.Cell reports · 2018Article
- Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells.Medical sciences (Basel, Switzerland) · 2017Review
- 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
- The genetics of uveal melanoma: current insights.The application of clinical genetics · 2016Review
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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
introductionLike uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as well. In this study, we used Sanger sequencing for the detection of mutations in SF3B1 (hotspots in exon 14 and 15) and EIF1AX (exon 1 and 2 and flanking intronic regions) in a series of 24 primary LMNs. Additionally, BAP1 immunohistochemistry was used as a surrogate marker for the detection of inactivating mutations in the BAP1 gene.
resultsMutations in either SF3B1 or EIF1AX were identified in 8 out of 24 primary LMNs (33 %). The presence of these mutations was mutually exclusive and occurred in primary LMNs of different malignancy grades (melanocytomas, intermediate-grade melanocytic tumors, melanomas). Complete absence of nuclear BAP1 staining as is typically seen in BAP1-mutated tumors was not observed.
conclusionsOur finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. This information may not only aid in the differential diagnosis of primary versus metastatic melanocytic tumor in/around the central nervous system, but also in the identification of more promising therapeutic approaches targeting the molecular pathways involved in the oncogenesis of LMNs. As none of the primary LMNs in our series showed complete loss of nuclear BAP1 protein, it is unlikely that BAP1 mutations are frequent in these tumors but the role of this gene warrants further investigation.
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