ArticleGenes, chromosomes & cancer2015
Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP-array and next generation sequencing analysis.
Article in Genes, chromosomes & cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- EANO guideline on the diagnosis and treatment of vestibular schwannoma.Neuro-oncology · 2020Guideline
- Molecular heterogeneity and prognostic biomarkers in primary meningeal melanocytic tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.Pituitary · 2025Article
- Malignant melanotic nerve sheath tumor mimicking a benign nerve sheath lesion: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Extradural malignant melanotic nerve sheath tumor of the lumbosacral spine: a diagnostic and surgical challenge.Annals of medicine and surgery (2012) · 2025Article
- Cervical Malignant Melanotic Nerve Sheath Tumor with retained PRKAR1A expression and a clinically benign course: a case report and review of the literature.Frontiers in surgery · 2025Article
- Current challenges and practical aspects of molecular pathology for bone and soft tissue tumors.Virchows Archiv : an international journal of pathology · 2024Review
- PRAME immunohistochemistry in soft tissue tumors and mimics: a study of 350 cases highlighting its imperfect specificity but potentially useful diagnostic applications.Virchows Archiv : an international journal of pathology · 2023Article
- [Histological and molecular characteristics of tumours of the peripheral nervous system].Pathologie (Heidelberg, Germany) · 2023Article
- Review
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- A para-aortic malignant melanotic nerve sheath tumor mimicking a gastrointestinal stromal tumor: a rare case report and review of literature.BMC surgery · 2022Review
- Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update.Diagnostics (Basel, Switzerland) · 2022Review
- Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.Free neuropathology · 2022Article
- Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations.Diagnostics (Basel, Switzerland) · 2021Review
- Review
- Diagnostic Pathology of Tumors of Peripheral Nerve.Neurosurgery · 2021Review
- Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study.Histopathology · 2017Article
- Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.Pediatric blood & cancer · 2017Article
- Genome-wide copy number aberrations and HER2 and FGFR1 alterations in primary breast cancer by molecular inversion probe microarray.Oncotarget · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
Melanotic Schwannomas (MS) are rare tumors that share histological features with melanocytic tumors and schwannomas. However, their genetics are poorly understood. To elucidate the genetic characteristics of MS, we performed genome-wide studies in a series of cases. Twelve MS cases were available for the study. Genomic DNAs extracted from formalin-fixed paraffin embedded tumor tissues were subjected to copy number (CN) and allelic imbalance (AI) analysis by Single Nucleotide Polymorphism (SNP)-array and screened for mutations in coding exons of 341 key cancer-associated genes using a hybrid capture-based next-generation sequencing (NGS) assay. Sanger sequencing was used to further verify recurrent mutations detected by NGS study. SNP-array analysis revealed remarkably stereotypic chromosomal abnormalities in MS. Hypodiploidy was common, typically involving monosomies of chromosomes 1, 2, and 17. All 12 samples showed mutations in PRKAR1A gene, including 2 cases with 2 mutations each. The 14 mutations were scattered across PRKAR1A, and most were inactivating mutations. AI on 17q, presenting as loss of heterozygosity with or without CN losses, combined with a PRKAR1A mutation was observed in 9/12 MS cases. The remaining 3 cases included the two samples harboring two mutations in PRKAR1A. MS exhibits a stereotypic pattern of chromosomal losses. In contrast, melanomas are typically characterized by the presence of multiple CN aberrations, without demonstrable differences in the frequency of losses and gains. Inactivation of both alleles of PRKAR1A by "two hits" observed in almost all cases underscores the central role of PRKAR1A in the pathogenesis of this neoplasm. © 2015 Wiley Periodicals, Inc.
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.