Evidence map›Paper›PMID 20678218›Full record

ArticleBMC cancer2010

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias.

Julien Rocquain, Nadine Carbuccia, Virginie Trouplin, Stéphane Raynaud, Anne Murati, Meyer Nezri, Zoulika Tadrist, Sylviane Olschwang, Norbert Vey, Daniel Birnbaum and 2 more

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 2 pooled it
12.0field-weighted citation impact, top 1% 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

86 citing papers in PubMed, 2 syntheses or guidelines pooled it, 171 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Epigenetic regulation by ASXL1 in myeloid malignancies.International journal of hematology · 2023
    Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.International journal of molecular sciences · 2021
    Review
  16. Article
  17. Review
  18. Article
  19. International journal of molecular sciences · 2020
    Review
  20. Review

26 more citing papers are in PubMed but not listed here.

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

12 authors at 5 institutions in 1 country.

Julien RocquainLaboratoire d'Oncologie Moléculaire, UMR891 Inserm, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille, Marseille, France.
Nadine Carbuccia
Virginie Trouplin
Stéphane Raynaud
Anne Murati
Meyer Nezri
Zoulika Tadrist
Sylviane Olschwang
Norbert Vey
Daniel Birnbaum
Véronique Gelsi-Boyer
Marie-Joelle Mozziconacci
Centre de Recherche en Cancérologie de Marseille · FRInstitut Paoli-Calmettes · FRInserm · FRCentre Hospitalier Universitaire de Reims · FRInstitut de Neurobiologie de la Méditerranée · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.

methodsWe searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) and 64 acute myeloid leukemias (AMLs) without balanced translocation or complex karyotype.

resultsMutations in ASXL1 and CBL were frequent in refractory anemia with excess of blasts. Mutations in TET2 occurred with similar frequency in MDSs and AMLs and associated equally with either ASXL1 or NPM1 mutations. Mutations of RUNX1 were mutually exclusive with TET2 and combined with ASXL1 but not with NPM1. Mutations in FLT3 (mutation and internal tandem duplication), IDH1, IDH2, NPM1 and WT1 occurred primarily in AMLs.

conclusionOnly 14% MDSs but half AMLs had at least two mutations in the genes studied. Based on the observed combinations and exclusions we classified the 12 genes into four classes and propose a highly speculative model that at least a mutation in one of each class is necessary for developing AML with simple or normal karyotype.

Indexed as

AgedAged, 80 and overCore Binding Factor Alpha 2 SubunitDioxygenasesDNA-Binding ProteinsDNA, NeoplasmFemalefms-Like Tyrosine Kinase 3Genes, rasHumansIsocitrate DehydrogenaseJanus Kinase 2Leukemia, Myeloid, AcuteMaleMiddle AgedMutationASXL1 protein, humanCBL protein, humanCore Binding Factor Alpha 2 SubunitDioxygenasesDNA-Binding ProteinsDNA, NeoplasmFLT3 protein, humanfms-Like Tyrosine Kinase 3IDH1 protein, humanIDH2 protein, humanIsocitrate DehydrogenaseJAK2 protein, humanJanus Kinase 2KRAS protein, humanNeoplasm ProteinsNPM1 protein, humanNuclear ProteinsNucleophosminProto-Oncogene ProteinsProto-Oncogene Proteins c-cblProto-Oncogene Proteins p21(ras)ras ProteinsRepressor ProteinsRUNX1 protein, humanTET2 protein, humanWT1 Proteins

Identifiers

PMID20678218
PMCPMC2923633
OpenAlexW2159355068

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.