Evidence map›Paper›PMID 34772467›Full record

ArticleBiomarker research2021

Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2.

Simone Romagnoli, Niccolò Bartalucci, Francesca Gesullo, Manjola Balliu, Stefania Bonifacio, Anair Graciela Lema Fernandez, Francesco Mannelli, Davide Bolognini, Elisabetta Pelo, Cristina Mecucci and 2 more

Open access · goldAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomarker research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

12 authors at 4 institutions in 1 country.

Simone Romagnoli *CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Niccolò Bartalucci *CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Francesca GesulloCRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Manjola BalliuCRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Stefania BonifacioGenetic Diagnostic Unit, Careggi University Hospital, Florence, Italy.
Anair Graciela Lema FernandezHematology Unit, Laboratory of Cytogenetics and Molecular Medicine, University of Perugia, Perugia, Italy.
Francesco MannelliCRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Davide BologniniUnit of Medical Genetics, Meyer Children's Hospital, Florence, Italy.
Elisabetta PeloGenetic Diagnostic Unit, Careggi University Hospital, Florence, Italy.
Cristina MecucciHematology Unit, Laboratory of Cytogenetics and Molecular Medicine, University of Perugia, Perugia, Italy.
Paola GuglielmelliCRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy.
Alessandro Maria VannucchiCRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Department of Experimental and Clinical medicine, Careggi University Hospital, University of Florence, DENOTHE Excellence Center, CUBO 3, Padiglione 27b, Viale Pieraccini, 6, 50134, Florence, Italy. amvannucchi@unifi.it.
University of Florence · ITAzienda Ospedaliero-Universitaria Careggi · ITUniversity of Perugia · ITMeyer Children's Hospital · IT

Funding

associazione italiana per la ricerca sul cancro #21267fondazione cassa di risparmio di firenze #46400
6 · The paper itself

Abstract

Eosinophilia represents a group of diseases with heterogeneous pathobiology and clinical phenotypes. Among the alterations found in primary Eosinophilia, gene fusions involving PDGFRα, PDGFRβ, FGFR1 or JAK2 represent the biomarkers of WHO-defined "myeloid and lymphoid neoplasms with eosinophilia". The heterogeneous nature of genomic aberrations and the promiscuity of fusion partners, may limit the diagnostic accuracy of current cytogenetics approaches. To address such technical challenges, we exploited a nanopore-based sequencing assay to screen patients with primary Eosinophilia. The comprehensive sequencing approach described here enables the identification of genomic fusion in 60 h, starting from DNA purified from whole blood.

Indexed as

FGFR1Nanopore sequencingPDGFRαPDGFRβPrimary eosinophilic disorders

Identifiers

PMID34772467
PMCPMC8588648
OpenAlexW3211338585

What OpenQuestion holds

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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.