Evidence map›Paper›PMID 29726589›Full record

ArticleGenes, chromosomes & cancer2018

Chromosomal rearrangements in uveal melanoma: Chromothripsis.

Natasha M van Poppelen, Serdar Yavuzyigitoglu, Kyra N Smit, Jolanda Vaarwater, Bert Eussen, Tom Brands, Dion Paridaens, Emine Kiliç, Annelies de Klein

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, chromosomes & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

9 authors at 2 institutions in 1 country.

Natasha M van PoppelenDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-6387-9997
Serdar YavuzyigitogluDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Kyra N SmitDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Jolanda VaarwaterDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Bert EussenDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Tom BrandsDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Dion ParidaensThe Rotterdam Eye Hospital, Rotterdam, The Netherlands.
Emine KiliçDepartment of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Annelies de KleinDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Erasmus MC · NLRotterdam Eye Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX, and SF3B1 are described as well as non-random chromosomal aberrations. Chromothripsis is a rare event in which chromosomes are shattered and rearranged and has been reported in a variety of cancers including UM. SNP arrays of 249 UM from patients who underwent enucleation, biopsy or endoresection were reviewed for the presence of chromothripsis. Chromothripsis was defined as ten or more breakpoints per chromosome involved. Genetic analysis of GNAQ, GNA11, BAP1, SF3B1, and EIF1AX was conducted using Sanger and next-generation sequencing. In addition, immunohistochemistry for BAP1 was performed. Chromothripsis was detected in 7 out of 249 tumors and the affected chromosomes were chromosomes 3, 5, 6, 8, 12, and 13. The mean total of fragments per chromosome was 39.8 (range 12-116). In 1 UM, chromothripsis was present in 2 different chromosomes. GNAQ, GNA11 or CYSLTR2 mutations were present in 6 of these tumors and 5 tumors harbored a BAP1 mutation and/or lacked BAP1 protein expression by immunohistochemistry. Four of these tumors metastasized and for the fifth only short follow-up data are available. One of these metastatic tumors harbored an SF3B1 mutation. No EIF1AX mutations were detected in any of the tumors. To conclude, chromothripsis is a rare event in UM, occurring in 2.8% of samples and without significant association with mutations in any of the common UM driver genes.

Indexed as

Chromosome AberrationsChromothripsisPrognosisAdultAgedEukaryotic Initiation Factor-1FemaleGTP-Binding Protein alpha SubunitsGTP-Binding Protein alpha Subunits, Gq-G11High-Throughput Nucleotide SequencingHumansImmunohistochemistryMaleMelanomaMiddle AgedMutationBAP1 protein, humanEukaryotic Initiation Factor-1eukaryotic peptide initiation factor-1AGNA11 protein, humanGNAQ protein, humanGTP-Binding Protein alpha SubunitsGTP-Binding Protein alpha Subunits, Gq-G11PhosphoproteinsRNA Splicing FactorsSF3B1 protein, humanTumor Suppressor ProteinsUbiquitin Thiolesterasecancerchromothripsisgeneticsophthalmologyuveal melanoma

Identifiers

PMID29726589
PMCPMC6175119
OpenAlexW2800233914

What OpenQuestion holds

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Registered trials

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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.