Evidence map›Paper›PMID 31540291›Full record

ArticleCancers2019

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Diego Carbonell, Julia Suárez-González, María Chicano, Cristina Andrés-Zayas, Juan Carlos Triviño, Gabriela Rodríguez-Macías, Mariana Bastos-Oreiro, Patricia Font, Mónica Ballesteros, Paula Muñiz and 6 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.6field-weighted citation impact, top 6% 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

19 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Review
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  4. Article
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  6. Novel CandidateCancers · 2023
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  14. Assessing acquired resistance to IDH1 inhibitor therapy by full-exonCold Spring Harbor molecular case studies · 2021
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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

16 authors at 3 institutions in 1 country.

Diego CarbonellDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. diego.carbonell@iisgm.com.ORCID 0000-0003-2960-0301
Julia Suárez-GonzálezGregorio Marañón Health Research Institute (IiSGM), 28007 Madrid, Spain. julia.suarez@iisgm.com.ORCID 0000-0002-4778-7096
María ChicanoDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. maria.chicano@salud.madrid.org.
Cristina Andrés-ZayasGregorio Marañón Health Research Institute (IiSGM), 28007 Madrid, Spain. cristina.andres@iisgm.com.
Juan Carlos TriviñoSistemas Genómicos, 46980 Valencia, Spain. jc.trivino@sistemasgenomicos.com.ORCID 0000-0001-6752-8000
Gabriela Rodríguez-MacíasDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. gabriela.rodriguez@salud.madrid.org.
Mariana Bastos-OreiroDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. marianabeatriz.bastos@salud.madrid.org.
Patricia FontDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. patricia.font@salud.madrid.org.
Mónica BallesterosDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. monica.ballesteros@salud.madrid.org.
Paula MuñizDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. paula.muniz@iisgm.com.
Pascual BalsalobreDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. pascual.balsalobre@salud.madrid.org.
Mi KwonDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. mi.kwon@salud.madrid.org.ORCID 0000-0002-3855-7774
Javier AnguitaDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. javier.anguita@salud.madrid.org.
José Luis Díez-MartínDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. jdiezm@salud.madrid.org.
Ismael BuñoDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. ismaelbuno@iisgm.com.ORCID 0000-0003-4931-9170
Carolina Martínez-LapercheDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain. cmartinezl@salud.madrid.org.
Hospital General Universitario Gregorio Marañón · ESSistemas Genómicos · ESUniversidad Complutense de Madrid · ES

Funding

Fundación Mutua Madrileña FMM15-04Instituto de Salud Carlos III PI17/1880
6 · The paper itself

Abstract

Molecular diagnosis of myeloid neoplasms (MN) is based on the detection of multiple genetic alterations using various techniques. Next-generation sequencing (NGS) has been proved as a useful method for analyzing many genes simultaneously. In this context, we analyzed diagnostic samples from 121 patients affected by MN and ten relapse samples from a subset of acute myeloid leukemia patients using two enrichment-capture NGS gene panels. Pathogenicity classification of variants was enhanced by the development and application of a custom onco-hematology score. A total of 278 pathogenic variants were detected in 84% of patients. For structural alterations, 82% of those identified by cytogenetics were detected by NGS, 25 of 31 copy number variants and three out of three translocations. The detection of variants using NGS changed the diagnosis of seven patients and the prognosis of 15 patients and enabled us to identify 44 suitable candidates for clinical trials. Regarding AML, six of the ten relapsed patients lost or gained variants, comparing with diagnostic samples. In conclusion, the use of NGS panels in MN improves genetic characterization of the disease compared with conventional methods, thus demonstrating its potential clinical utility in routine clinical testing. This approach leads to better-adjusted treatments for each patient.

Indexed as

acute myeloid leukemiamyeloid neoplasmNext-generation sequencingroutine diagnosis

Identifiers

PMID31540291
PMCPMC6770229
OpenAlexW2972405358

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.