Evidence map›Paper›PMID 14627667›Full record

ArticleJournal of medical genetics2003

Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation.

C Warren, L A James, R T Ramsden, A Wallace, M E Baser, J M Varley, D G Evans

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Benign Spinal Tumors.Advances in experimental medicine and biology · 2023
    Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. P14ARF deficiency and its correlation with overexpression of p53/MDM2 in sporadic vestibular schwannomas.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2015
    Article
  9. Article
  10. DNA copy gains of tumor-related genes in vestibular schwannoma.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2013
    Article
  11. Merlin, the NF2 gene product.Pathology oncology research : POR · 2013
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.Brain pathology (Zurich, Switzerland) · 2007
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 5 institutions in 1 country.

C WarrenCancer Research UK Department of Cancer Genetics, The Paterson Institute for Cancer Research, Manchester, UK.
L A James
R T Ramsden
A Wallace
M E Baser
J M Varley
D G Evans
Cancer Research UK Manchester Institute · GBCancer Research UK · GBManchester Royal Infirmary · GBSt Mary's Hospital · GBSt. Mary's Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSchwannomas are benign tumours of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2 (NF2). The NF2 gene is a tumour suppressor on chromosome 22. Loss of expression of the NF2 protein product, merlin, is universal in both sporadic and NF2 related schwannomas. The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation.

methodsComparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis.

resultsThe most common change was loss on chromosome 22, which was more frequent in sporadic than in NF2 related tumours. Importantly, eight tumours (10%) showed gain of copy number on chromosome 9q34. Each of the two NF2 patients who had received stereotactic radiotherapy had non-chromosome 22 changes, whereas only one of eight non-irradiated NF2 patients had any chromosome changes. Three tumours had gain on 17q, which has also been reported in malignant peripheral nerve sheath tumours that are associated with neurofibromatosis type 1. Other sites that were identified in three or fewer tumours were regions on chromosomes 10, 11, 13, 16, 19, 20, X, and Y.

conclusionsThese findings should be verified using techniques that can detect smaller genetic changes, such as microarray-CGH.

Indexed as

Chromosome DeletionAdolescentAdultAgedChildChromosome AberrationsChromosomes, Human, Pair 9FemaleGene AmplificationGenes, Neurofibromatosis 2HumansLoss of HeterozygosityMaleMiddle AgedNeurofibromatosis 2Neuroma, Acoustic

Identifiers

PMID14627667
PMCPMC1735326
OpenAlexW2102447282

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.