ArticleMelanoma research2017
Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma.
Article in Melanoma research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 180 citations in OpenAlex.
- Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.Genome medicine · 2022Pooled it
- Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell-cycle, MAPK, and PI3K pathways.The Journal of pathology · 2026Article
- Article
- Advanced Mucosal Melanoma Therapies: Current Status and Future Directions.Current treatment options in oncology · 2026Review
- A spring-loaded grip-and-pull mechanism for stepwise RNA duplex unwinding by Xrn1.Nucleic acids research · 2026Article
- Malignant Melanoma: Landscape of Molecular Markers.Biomedicines · 2026Article
- Modeling rare melanoma subtypes: mechanisms, microenvironments and translational opportunities.Frontiers in oncology · 2026Review
- Exploring Molecular Characteristics and Therapeutic Strategies for Primary Sinonasal Mucosal Melanoma With Distant Metastasis.Laboratory investigation; a journal of technical methods and pathology · 2025Article
- Conjunctival melanoma genomic analysis reveals intermediate tumor mutation burden and genomic overlap with cutaneous melanoma.NPJ precision oncology · 2025Article
- Spliceosome inhibition induces Z-RNA and ZBP1-driven cell death in small cell lung cancer.Cell reports · 2025Article
- Capacity for Compensatory Cyclin D2 Response Confers Trametinib Resistance in Canine Mucosal Melanoma.Cancers · 2025Article
- Single-Cell Transcriptomic Landscape Deciphers Intratumoral Heterogeneity and Subtypes of Acral and Mucosal Melanomas.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Combination Immunotherapy for Mucosal Melanoma: Molecular Mechanism, Research Status, and Future Directions.Current treatment options in oncology · 2025Review
- Capacity for compensatory cyclin D2 response confers trametinib resistance in canine mucosal melanoma.bioRxiv : the preprint server for biology · 2025Article
- Primary Melanoma of the Urinary Bladder: Clinical, Histopathologic, and Comprehensive Molecular Analysis of a Rare Tumor.International journal of surgical pathology · 2025Article
- Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.Molecular diagnosis & therapy · 2025Article
- SF3B1: from core splicing factor to oncogenic driver.RNA (New York, N.Y.) · 2025Review
- Evaluating Tumor Dynamics Using Circulating Tumor DNA in the Rare Cancer Anorectal Malignant Melanoma: A Report of Two Cases.Surgical case reports · 2025Article
- Novel cellular systems unveil mucosal melanoma initiating cells and a role for PI3K/Akt/mTOR pathway in mucosal melanoma fitness.Journal of translational medicine · 2024Article
- Characterization of RNA Processing Genes in Colon Cancer for Predicting Clinical Outcomes.Biomarker insights · 2024Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 3 institutions in 1 country.
Funding
Abstract
Mucosal melanomas are a rare subtype of melanoma, arising in mucosal tissues, which have a very poor prognosis due to the lack of effective targeted therapies. This study aimed to better understand the molecular landscape of these cancers and find potential new therapeutic targets. Whole-exome sequencing was performed on mucosal melanomas from 19 patients and 135 sun-exposed cutaneous melanomas, with matched peripheral blood samples when available. Mutational profiles were compared between mucosal subgroups and sun-exposed cutaneous melanomas. Comparisons of molecular profiles identified 161 genes enriched in mucosal melanoma (P<0.05). KIT and NF1 were frequently comutated (32%) in the mucosal subgroup, with a significantly higher incidence than that in cutaneous melanoma (4%). Recurrent SF3B1 R625H/S/C mutations were identified and validated in 7 of 19 (37%) mucosal melanoma patients. Mutations in the spliceosome pathway were found to be enriched in mucosal melanomas when compared with cutaneous melanomas. Alternative splicing in four genes were observed in SF3B1-mutant samples compared with the wild-type samples. This study identified potential new therapeutic targets for mucosal melanoma, including comutation of NF1 and KIT, and recurrent R625 mutations in SF3B1. This is the first report of SF3B1 R625 mutations in vulvovaginal mucosal melanoma, with the largest whole-exome sequencing project of mucosal melanomas to date. The results here also indicated that the mutations in SF3B1 lead to alternative splicing in multiple genes. These findings expand our knowledge of this rare disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.