Evidence map›Paper›PMID 36430597›Full record

ReviewInternational journal of molecular sciences2022

Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.

Lismeri Wuicik Merfort, Mateus de Oliveira Lisboa, Luciane Regina Cavalli, Carmem Maria Sales Bonfim

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

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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

4 authors at 2 institutions in 1 country.

Lismeri Wuicik MerfortCytogenetics Laboratory, Universidade Federal do Paraná (UFPR), Curitiba 80060-240, Brazil.
Mateus de Oliveira LisboaCore for Cell Technology, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba 80215-901, Brazil.ORCID 0000-0002-2811-8356
Luciane Regina CavalliResearch Institute Pelé Pequeno Príncipe, Faculdades Pequeno Príncipe (FPP), Curitiba 80230-020, Brazil.
Carmem Maria Sales BonfimResearch Institute Pelé Pequeno Príncipe, Faculdades Pequeno Príncipe (FPP), Curitiba 80230-020, Brazil.
Pontifícia Universidade Católica do Paraná · BRUniversidade Federal do Paraná · BR

Funding

Programa Nacional de Apoio à Atenção Oncológica (PRONON) 25000.055.360/2015-54
6 · The paper itself

Abstract

Fanconi Anemia (FA) is a disease characterized by genomic instability, increased sensitivity to DNA cross-linking agents, and the presence of clonal chromosomal abnormalities. This genomic instability can compromise the bone marrow (BM) and confer a high cancer risk to the patients, particularly in the development of Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). The diagnosis of FA patients is complex and cannot be based only on clinical features at presentation. The gold standard diagnostic assay for these patients is cytogenetic analysis, revealing chromosomal breaks induced by DNA cross-linking agents. Clonal chromosome abnormalities, such as the ones involving chromosomes 1q, 3q, and 7, are also common features in FA patients and are associated with progressive BM failure and/or a pre-leukemia condition. In this review, we discuss the cytogenetic methods and their application in diagnosis, stratification of the patients into distinct prognostic groups, and the clinical follow-up of FA patients. These methods have been invaluable for the understanding of FA pathogenesis and identifying novel disease biomarkers. Additional evidence is required to determine the association of these biomarkers with prognosis and cancer risk, and their potential as druggable targets for FA therapy.

Indexed as

Fanconi AnemiaLeukemia, Myeloid, AcuteBiomarkersChromosome AberrationsCytogenetic AnalysisFollow-Up StudiesGenomic InstabilityHumansBiomarkersbone marrowcancerchromosomescytogeneticsFanconi Anemiagenomic instability

Identifiers

PMID36430597
PMCPMC9699043
OpenAlexW4309313500

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.