Evidence map›Paper›PMID 32433508›Full record

ReviewLeukemia2020

Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome.

Anouchka P Laurent, Rishi S Kotecha, Sébastien Malinge

Open access · hybridAbstract readReview
In one paragraph

Review in Leukemia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
4.8field-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

38 citing papers in PubMed, 73 citations in OpenAlex.

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  17. Trisomies Reorganize Human 3D Genome.International journal of molecular sciences · 2023
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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 2 institutions in 2 countries.

Anouchka P LaurentINSERM U1170, Gustave Roussy Institute, Université Paris Saclay, Villejuif, France.
Rishi S KotechaSchool of Pharmacy and Biomedical Sciences, Curtin University, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0003-1836-4075
Sébastien MalingeINSERM U1170, Gustave Roussy Institute, Université Paris Saclay, Villejuif, France. sebastien.malinge@telethonkids.org.au.ORCID http://orcid.org/0000-0002-9533-7778
Inserm · FRThe Kids Research Institute Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown. Gain of chromosome 21 is a frequently occurring aberration in several types of acute leukemia and can be found in up to 35% of cases. Children with Down syndrome (DS), who harbor constitutive trisomy 21, highlight the link between gain of chromosome 21 and leukemogenesis, with an increased risk of developing acute leukemia compared with other children. Clinical outcomes for DS-associated leukemia have improved over the years through the development of uniform treatment protocols facilitated by international cooperative groups. The genetic landscape has also recently been characterized, providing an insight into the molecular pathogenesis underlying DS-associated leukemia. These studies emphasize the key role of trisomy 21 in priming a developmental stage and cellular context susceptible to transformation, and have unveiled its cooperative function with additional genetic events that occur during leukemia progression. Here, using DS-leukemia as a paradigm, we aim to integrate our current understanding of the role of trisomy 21, of critical dosage-sensitive chromosome 21 genes, and of associated mechanisms underlying the development of hematological malignancies. This review will pave the way for future investigations on the broad impact of gain of chromosome 21 in hematological cancer, with a view to discovering new vulnerabilities and develop novel targeted therapies to improve long term outcomes for DS and non-DS patients.

Indexed as

Chromosome AberrationsChromosomes, Human, Pair 21AnimalsChildDown SyndromeEpigenesis, GeneticHumansJanus Kinase 2LeukemiaTranscriptional Regulator ERGERG protein, humanJAK2 protein, humanJanus Kinase 2Transcriptional Regulator ERG

Identifiers

PMID32433508
PMCPMC7387246
OpenAlexW3027790926

What Socratic 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 Socratic graph.