Evidence map›Paper›PMID 22094584›Full record

ArticleLeukemia2012

Whole-exome sequencing of pediatric acute lymphoblastic leukemia.

H Lilljebjörn, M Rissler, C Lassen, J Heldrup, M Behrendtz, F Mitelman, B Johansson, T Fioretos

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In one paragraph

Article in Leukemia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

15 citing papers in PubMed, 34 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Outcome and Prognostic Factors forCancer research and treatment · 2017
    Article
  7. Article
  8. Emerging technologies in paediatric leukaemia.Translational pediatrics · 2015
    Review
  9. Article
  10. Article
  11. Article
  12. NCG 4.0: the network of cancer genes in the era of massive mutational screenings of cancer genomes.Database : the journal of biological databases and curation · 2014
    Article
  13. Article
  14. Don't Mess with RUNX1.Molecular syndromology · 2012
    Article
  15. Review
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

8 authors at 3 institutions in 1 country.

H LilljebjörnDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden. henrik.lilljebjorn@med.lu.se
M Rissler
C Lassen
J Heldrup
M Behrendtz
F Mitelman
B Johansson
T Fioretos
Skåne University Hospital · SELund University · SELinköping University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acute lymphoblastic leukemia (ALL), the most common malignant disorder in childhood, is typically associated with numerical chromosomal aberrations, fusion genes or small focal deletions, thought to represent important pathogenetic events in the development of the leukemia. Mutations, such as single nucleotide changes, have also been reported in childhood ALL, but these have only been studied by sequencing a small number of candidate genes. Herein, we report the first unbiased sequencing of the whole exome of two cases of pediatric ALL carrying the ETV6/RUNX1 (TEL/AML1) fusion gene (the most common genetic subtype) and corresponding normal samples. A total of 14 somatic mutations were identified, including four and seven protein-altering nucleotide substitutions in each ALL. Twelve mutations (86%) occurred in genes previously described to be mutated in other types of cancer, but none was found to be recurrent in an extended series of 29 ETV6/RUNX1-positive ALLs. The number of single nucleotide mutations was similar to the number of copy number alterations as detected by single nucleotide polymorphism arrays. Although the true pathogenetic significance of the mutations must await future functional evaluations, this study provides a first estimate of the mutational burden at the genetic level of t(12;21)-positive childhood ALL.

Indexed as

Chromosome AberrationsCase-Control StudiesChildCore Binding Factor Alpha 2 SubunitETS Translocation Variant 6 ProteinExomeGene DosageGene FusionHumansMutationOncogene Proteins, FusionPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaPrognosisSequence Analysis, DNACore Binding Factor Alpha 2 SubunitETS Translocation Variant 6 ProteinOncogene Proteins, FusionTEL-AML1 fusion protein

Identifiers

PMID22094584
OpenAlexW2012529158

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.