Evidence map›Paper›PMID 18925961›Full record

ArticleBMC cancer2008

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

Véronique Gelsi-Boyer, Virginie Trouplin, José Adélaïde, Nicola Aceto, Virginie Remy, Stephane Pinson, Claude Houdayer, Christine Arnoulet, Danielle Sainty, Mohamed Bentires-Alj and 5 more

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 3% 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

56 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 citations in OpenAlex.

  1. Pooled it
  2. Review
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  5. Article
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  9. Molecular Pathogenesis ofFrontiers in oncology · 2021
    Review
  10. CRISPR-Cas9 Editing of Human Histone Deubiquitinase GeneFrontiers in cell and developmental biology · 2021
    Article
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  15. Article
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  19. Article
  20. Frontiers in cell and developmental biology · 2017
    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

15 authors at 7 institutions in 2 countries.

Véronique Gelsi-BoyerCentre de Recherche en Cancérologie de Marseille, Laboratoire d'Oncologie Moléculaire, UMR891 Inserm, Institut Paoli-Calmettes, Marseille, France. gelsiv@marseille.fnclcc.fr
Virginie Trouplin
José Adélaïde
Nicola Aceto
Virginie Remy
Stephane Pinson
Claude Houdayer
Christine Arnoulet
Danielle Sainty
Mohamed Bentires-Alj
Sylviane Olschwang
Norbert Vey
Marie-Joëlle Mozziconacci
Daniel Birnbaum
Max Chaffanet
Institut Pprime · FRInstitut Paoli-Calmettes · FRCentre de Recherche en Cancérologie de Marseille · FRFriedrich Miescher Institute · CHInserm · FRHospices Civils de Lyon · FRInstitut Curie · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChronic myelomonocytic leukemia (CMML) is a hematological disease close to, but separate from both myeloproliferative disorders (MPD) and myelodysplastic syndromes and may show either myeloproliferative (MP-CMML) or myelodysplastic (MD-CMML) features. Not much is known about the molecular biology of this disease.

methodsWe studied a series of 30 CMML samples (13 MP- and 11 MD-CMMLs, and 6 acutely transformed cases) from 29 patients by using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes.

resultsTwo-thirds of samples did not show any obvious alteration of aCGH profiles. In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6). RAS mutations were detected in 4 cases (including an uncommon codon 146 mutation in KRAS) and PTPN11 mutations in 3 cases. We detected 11 RUNX1 alterations (9 mutations and 2 rearrangements). The rearrangements were a new, cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16. RAS and RUNX1 alterations were not mutually exclusive. RAS pathway mutations occurred in MP-CMMLs (approximately 46%) but not in MD-CMMLs. RUNX1 alterations (mutations and cryptic rearrangement) occurred in both MP and MD classes (~38%).

conclusionWe detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic USP16-RUNX1 fusion. In some samples, two alterations coexisted already at this early chronic stage.

Indexed as

Gene Expression ProfilingChromosomes, Human, Pair 21Comparative Genomic HybridizationCore Binding Factor Alpha 2 SubunitGenes, rasHumansLeukemia, Myelomonocytic, ChronicMutationOncogene Proteins, FusionSequence Analysis, DNASignal TransductionUbiquitin ThiolesteraseCore Binding Factor Alpha 2 SubunitOncogene Proteins, FusionUbiquitin ThiolesteraseUSP16 protein, human

Identifiers

PMID18925961
PMCPMC2588460
OpenAlexW2009465244

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.