Evidence map›Paper›PMID 24150215›Full record

ArticleLeukemia2014

Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

E Tenedini, I Bernardis, V Artusi, L Artuso, E Roncaglia, P Guglielmelli, L Pieri, C Bogani, F Biamonte, G Rotunno and 10 more

Open access · hybridAbstract readValidation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Leukemia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 4% 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

41 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. The Prevalence ofCancers · 2021
    Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Allogeneic Stem Cell Transplantation in Myelofibrosis.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 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

20 authors at 2 institutions in 1 country.

E Tenedini1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy [3] Center for Regenerative Medicine 'Stefano Ferrari', University of Modena and Reggio Emilia, Modena, Italy.
I Bernardis1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
V Artusi1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
L Artuso1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
E Roncaglia1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
P GuglielmelliDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
L PieriDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
C BoganiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
F BiamonteDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
G RotunnoDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
C MannarelliDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
E Bianchi1] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy [2] Center for Regenerative Medicine 'Stefano Ferrari', University of Modena and Reggio Emilia, Modena, Italy.
A PancrazziDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
T FanelliDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
G Malagoli Tagliazucchi1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
S Ferrari1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
R Manfredini1] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy [2] Center for Regenerative Medicine 'Stefano Ferrari', University of Modena and Reggio Emilia, Modena, Italy.
A M VannucchiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
E Tagliafico1] Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy [2] Life Sciences Department, University of Modena and Reggio Emilia, Modena, Italy.
AGIMM investigators
University of Modena and Reggio Emilia · ITUniversity of Florence · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With the intent of dissecting the molecular complexity of Philadelphia-negative myeloproliferative neoplasms (MPN), we designed a target enrichment panel to explore, using next-generation sequencing (NGS), the mutational status of an extensive list of 2000 cancer-associated genes and microRNAs. The genomic DNA of granulocytes and in vitro-expanded CD3+T-lymphocytes, as a germline control, was target-enriched and sequenced in a learning cohort of 20 MPN patients using Roche 454 technology. We identified 141 genuine somatic mutations, most of which were not previously described. To test the frequency of the identified variants, a larger validation cohort of 189 MPN patients was additionally screened for these mutations using Ion Torrent AmpliSeq NGS. Excluding the genes already described in MPN, for 8 genes (SCRIB, MIR662, BARD1, TCF12, FAT4, DAP3, POLG and NRAS), we demonstrated a mutation frequency between 3 and 8%. We also found that mutations at codon 12 of NRAS (NRASG12V and NRASG12D) were significantly associated, for primary myelofibrosis (PMF), with highest dynamic international prognostic scoring system (DIPSS)-plus score categories. This association was then confirmed in 66 additional PMF patients composing a final dataset of 168 PMF showing a NRAS mutation frequency of 4.7%, which was associated with a worse outcome, as defined by the DIPSS plus score.

Indexed as

ExomeGerm-Line MutationCohort StudiesHumansMyeloproliferative DisordersNeoplasms

Identifiers

PMID24150215
PMCPMC4017260
OpenAlexW2064195159

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.