Evidence map›Paper›PMID 21127945›Full record

ReviewJournal of neuro-oncology2011

A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature.

Mariela C Coccé, Fabiana Lubieniecki, Uwe Kordes, Daniel Alderete, Marta S Gallego

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of neuro-oncology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

8 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Atypical teratoid rhabdoid tumour of the spine: report of a case and literature review.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2015
    Review
  7. Article
  8. 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

5 authors at 2 institutions in 2 countries.

Mariela C CoccéCytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Combate de los Pozos 1881, 1245 Buenos Aires, Argentina. marielacocce@yahoo.com.ar
Fabiana Lubieniecki
Uwe Kordes
Daniel Alderete
Marta S Gallego
Garrahan Hospital · ARUniversität Hamburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon neoplasm of the central nervous system that usually occurs in children less than 2 years of age. It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We performed cytogenetic and molecular studies of an AT/RT on a 15-month-old boy. The tumor showed a complex karyotype with one cell line showing monosomy 22 and another near-tetraploid one with additional chromosomal abnormalities, involving chromosomes 2, 3, 5, 6, and Y, which had not been previously described. Sequence analysis of the tumor did not identify mutations of the INI1 gene. The karyotypic evolution observed in this tumor suggests that INI1 has an epigenetic role in the maintenance of genome integrity by affecting genes, which produces mitotic defects and polyploidy. Finally, this case is the first to support the theory that loss of INI1 could induce the chromosomal instability that might be responsible for the genesis of this tumor.

Indexed as

Chromosomal Proteins, Non-HistoneChromosome DeletionChromosomes, Human, Pair 22DNA-Binding ProteinsHumansInfantKaryotypingMaleMutationRhabdoid TumorSMARCB1 ProteinTeratomaTranscription FactorsChromosomal Proteins, Non-HistoneDNA-Binding ProteinsSMARCB1 ProteinSMARCB1 protein, humanTranscription Factors

Identifiers

PMID21127945
OpenAlexW2043301967

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.