ArticleCancer research2009
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.
Article in Cancer research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00111384 (Variation in Gene Expression in Neurofibromatosis Type 1), which is not on this map. Cited by 48 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.
Variation in Gene Expression in Neurofibromatosis Type 1
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- The Molecular Mechanism and Therapeutic Progress in Glomus Tumor.Cancer medicine · 2026Review
- Temporoparietal Scalp Intravenous Schwannoma: Rare Subcutaneous Soft Tissue Mass in an Unusual Location.Case reports in surgery · 2026Article
- Unmasking the Silent Glomus Tumor of the Index Finger-A Case Report and Literature Review.Clinical case reports · 2026Article
- Surgical Management of Difficult Nail Glomus Tumors.Skin appendage disorders · 2024Review
- Diagnostic and Therapeutic Insights into Spinal Glomangioma of a Unique Intradural, Extramedullary Presentation-Systematic Review.Diseases (Basel, Switzerland) · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Review
- Glomus Tumor Within the Tensor Fascia Lata: A Case Report.The American journal of case reports · 2023Article
- A case of solitary digital glomus tumor associated with neurofibromatosis type 1.SAGE open medical case reports · 2023Article
- Neurofibromatosis Type 1-Associated Optic Pathway Gliomas: Current Challenges and Future Prospects.Cancer management and research · 2023Review
- Review
- Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in thePharmacogenomics and personalized medicine · 2022Article
- Primary glomus tumour of the pituitary gland: diagnostic challenges of a rare and potentially aggressive neoplasm.Virchows Archiv : an international journal of pathology · 2021Article
- Cutaneous Findings in Neurofibromatosis Type 1.Cancers · 2021Review
- Peripheral nerve tumors of the hand: Clinical features, diagnosis, and treatment.World journal of clinical cases · 2020Review
- Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.Molecular genetics & genomic medicine · 2020Article
- Fibroblast‑derived exosomal microRNA‑369 potentiates migration and invasion of lung squamous cell carcinoma cells via NF1‑mediated MAPK signaling pathway.International journal of molecular medicine · 2020Article
- What is new in pericytomatous, myoid, and myofibroblastic tumors?Virchows Archiv : an international journal of pathology · 2020Review
- Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1.Journal of neuroscience research · 2019Review
Corrections and comments
- Erratum issuedMessia, Ludwine [corrected to Messiaen, Ludwine]
Authors and funding
18 authors at 9 institutions in 4 countries.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shunt concentrated in the fingers and toes. We report 11 individuals with NF1 who harbored 20 glomus tumors of the fingers and 1 in the toe; 5 individuals had multiple glomus tumors. We hypothesized that biallelic inactivation of NF1 underlies the pathogenesis of these tumors. In 12 NF1-associated glomus tumors, we used cell culture and laser capture microdissection to isolate DNA. We also analyzed two sporadic (not NF1-associated) glomus tumors. Genetic analysis showed germ line and somatic NF1 mutations in seven tumors. RAS mitogen-activated protein kinase hyperactivation was observed in cultured NF1(-/-) glomus cells, reflecting a lack of inhibition of the pathway by functional neurofibromin, the protein product of NF1. No abnormalities in NF1 or RAS mitogen-activated protein kinase activation were found in sporadic glomus tumors. By comparative genomic hybridization, we observed amplification of the 3'-end of CRTAC1 and a deletion of the 5'-end of WASF1 in two NF1-associated glomus tumors. For the first time, we show that loss of neurofibromin function is crucial in the pathogenesis of glomus tumors in NF1. Glomus tumors of the fingers or toes should be considered as part of the tumor spectrum of NF1.
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.