Evidence map›Paper›PMID 24136165›Full record

ReviewBlood2013

The genetic basis of myelodysplasia and its clinical relevance.

Mario Cazzola, Matteo G Della Porta, Luca Malcovati

3 registry-linked trialsOpen access · bronzeAbstract readReview
In one paragraph

Review in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 198 papers.

0numbers the graph read from it
0cells of the map it votes in
198citing papers in PubMed
23.2field-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.

NCT03907553 completednot on this map

Aging of Hematopoietic Stem Cells - Molecular Architecture of Marrow Dysplasia and Clinical Contribution of Ineffective Hematopoiesis to Frailty in the Elderly

TypeobservationalSponsorIstituto Clinico HumanitasRan2003Enrolled5,000ConditionsAnemia, Clonal HematopoiesisArmstargeted genome sequencing
NCT04212390 completednot on this mapstarted 2020, after this paper: background citation

Personalized Medicine Program on Myelodysplastic Syndromes: Characterization of the Patient's Genome for Clinical Decision Making and Systematic Collection of Real World Data to Improve Quality of Health Care

TypeobservationalSponsorFondazione Italiana Sindromi Mielodisplastiche-ETSRan2020 to 2024Enrolled1,000ConditionsMDS (Myelodysplastic Syndrome)
NCT04889729 unknown statusnot on this mapstarted 2021, after this paper: background citation

Genomic and Personalized Medicine for All (GENOMED4ALL): Application of Artificial Intelligence to Improve Disease Classification and Prognosis in Myelodysplastic Syndrome.

TypeobservationalSponsorIstituto Clinico HumanitasRan2021 to 2024Enrolled13,284ConditionsMyelodysplastic Syndromes
3 · Its place in the literature

Who cites it

198 citing papers in PubMed, 345 citations in OpenAlex.

  1. Trial
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  3. SomaticHemaSphere · 2026
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  13. Characterization and Clinical Implications of p53 Dysfunction in Patients With Myelodysplastic Syndromes.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025
    Article
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  16. Review
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138 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

3 authors at 1 institution in 1 country.

Mario CazzolaDepartment of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; and.
Matteo G Della Porta
Luca Malcovati
University of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myelodysplasia is a diagnostic feature of myelodysplastic syndromes (MDSs) but is also found in other myeloid neoplasms. Its molecular basis has been recently elucidated by means of massive parallel sequencing studies. About 90% of MDS patients carry ≥1 oncogenic mutations, and two thirds of them are found in individuals with a normal karyotype. Driver mutant genes include those of RNA splicing (SF3B1, SRSF2, U2AF1, and ZRSR2), DNA methylation (TET2, DNMT3A, and IDH1/2), chromatin modification (ASXL1 and EZH2), transcription regulation (RUNX1), DNA repair (TP53), signal transduction (CBL, NRAS, and KRAS), and cohesin complex (STAG2). Only 4 to 6 genes are consistently mutated in ≥10% MDS patients, whereas a long tail of ∼50 genes are mutated less frequently. At presentation, most patients typically have 2 or 3 driver oncogenic mutations and hundreds of background mutations. MDS driver genes are also frequently mutated in other myeloid neoplasms. Reliable genotype/phenotype relationships include the association of the SF3B1 mutation with refractory anemia with ring sideroblasts, TET2/SRSF2 comutation with chronic myelomonocytic leukemia, and activating CSF3R mutation with chronic neutrophilic leukemia. Although both founding and subclonal driver mutations have been shown to have prognostic significance, prospective clinical trials that include the molecular characterization of the patient's genome are now needed.

Indexed as

Genome, HumanLeukemia, Myelogenous, Chronic, BCR-ABL PositiveMutationMyelodysplastic SyndromesNeoplasm ProteinsAnimalsChromatinClinical Trials as TopicDNA Mutational AnalysisHumansRNA SplicingSignal TransductionTranscription, GeneticChromatinNeoplasm Proteins

Identifiers

PMID24136165
PMCPMC3862275
OpenAlexW2135898863

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.