Evidence map›Paper›PMID 25499761›Full record

ReviewBlood2015

The hidden genomic landscape of acute myeloid leukemia: subclonal structure revealed by undetected mutations.

Margherita Bodini, Chiara Ronchini, Luciano Giacò, Anna Russo, Giorgio E M Melloni, Lucilla Luzi, Domenico Sardella, Sara Volorio, Syed K Hasan, Tiziana Ottone and 12 more

Abstract readReview
In one paragraph

Review in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
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

12 citing papers in PubMed.

  1. Review
  2. Immune Biology of Acute Myeloid Leukemia: Implications for Immunotherapy.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Acute Myeloid Leukemia: How Do We Measure Success?Current hematologic malignancy reports · 2016
    Review
  9. Article
  10. Review
  11. Review
  12. [Current status and challenges of diagnosis and monitoring of hematologic malignancies].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2015
    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

22 authors.

Margherita BodiniCenter for Genomic Science of IIT@SEMM, Fondazione Istituto Italiano di Tecnologia, Milan, Italy;
Chiara RonchiniCenter for Genomic Science of IIT@SEMM, Fondazione Istituto Italiano di Tecnologia, Milan, Italy;
Luciano GiacòDepartment of Experimental Oncology, European Institute of Oncology, Milan, Italy;
Anna RussoDepartment of Experimental Oncology, European Institute of Oncology, Milan, Italy;
Giorgio E M MelloniCenter for Genomic Science of IIT@SEMM, Fondazione Istituto Italiano di Tecnologia, Milan, Italy;
Lucilla LuziDepartment of Experimental Oncology, European Institute of Oncology, Milan, Italy; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy;
Domenico SardellaIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy; Cogentech, Milan, Italy;
Sara VolorioIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy; Cogentech, Milan, Italy;
Syed K HasanDepartment of Medical Oncology, Advanced Centre for Treatment, Research & Education in Cancer, Navi Mumbai, India; Department of Biomedicine and Prevention, University of "Rome Tor Vergata," Rome, Italy; Laboratorio di Neuro-Oncoematologia, Fondazione Santa Lucia, Rome, Italy;
Tiziana OttoneDepartment of Biomedicine and Prevention, University of "Rome Tor Vergata," Rome, Italy; Laboratorio di Neuro-Oncoematologia, Fondazione Santa Lucia, Rome, Italy;
Serena LavorgnaDepartment of Biomedicine and Prevention, University of "Rome Tor Vergata," Rome, Italy; Laboratorio di Neuro-Oncoematologia, Fondazione Santa Lucia, Rome, Italy;
Francesco Lo-CocoDepartment of Biomedicine and Prevention, University of "Rome Tor Vergata," Rome, Italy; Laboratorio di Neuro-Oncoematologia, Fondazione Santa Lucia, Rome, Italy;
Anna CandoniDivision of Hematology and Bone Marrow Transplantation, University Hospital, Udine, Italy;
Renato FaninDivision of Hematology and Bone Marrow Transplantation, University Hospital, Udine, Italy;
Eleonora ToffolettiDivision of Hematology and Bone Marrow Transplantation, University Hospital, Udine, Italy;
Ilaria IacobucciInstitute of Hematology "Seràgnoli," Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy;
Giovanni MartinelliInstitute of Hematology "Seràgnoli," Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy;
Alessandro CignettiUniversity Division of Hematology and Cell Therapy, Mauriziano Hospital and University of Torino, Torino, Italy; and.
Corrado TarellaUniversity Division of Hematology and Cell Therapy, Mauriziano Hospital and University of Torino, Torino, Italy; and.
Loris BernardDepartment of Experimental Oncology, European Institute of Oncology, Milan, Italy; Cogentech, Milan, Italy;
Pier Giuseppe PelicciDepartment of Experimental Oncology, European Institute of Oncology, Milan, Italy; Dipartimento di Scienze della salute, Università degli Studi di Milano, Milan, Italy.
Laura RivaCenter for Genomic Science of IIT@SEMM, Fondazione Istituto Italiano di Tecnologia, Milan, Italy;

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The analyses carried out using 2 different bioinformatics pipelines (SomaticSniper and MuTect) on the same set of genomic data from 133 acute myeloid leukemia (AML) patients, sequenced inside the Cancer Genome Atlas project, gave discrepant results. We subsequently tested these 2 variant-calling pipelines on 20 leukemia samples from our series (19 primary AMLs and 1 secondary AML). By validating many of the predicted somatic variants (variant allele frequencies ranging from 100% to 5%), we observed significantly different calling efficiencies. In particular, despite relatively high specificity, sensitivity was poor in both pipelines resulting in a high rate of false negatives. Our findings raise the possibility that landscapes of AML genomes might be more complex than previously reported and characterized by the presence of hundreds of genes mutated at low variant allele frequency, suggesting that the application of genome sequencing to the clinic requires a careful and critical evaluation. We think that improvements in technology and workflow standardization, through the generation of clear experimental and bioinformatics guidelines, are fundamental to translate the use of next-generation sequencing from research to the clinic and to transform genomic information into better diagnosis and outcomes for the patient.

Indexed as

Databases, Nucleic AcidGene FrequencyGenome, HumanMutationComputational BiologyDNA Mutational AnalysisGenomicsHigh-Throughput Nucleotide SequencingHumansLeukemia, Myeloid, Acute

Identifiers

PMID25499761
PMCPMC4304104

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.