Evidence map›Paper›PMID 38612443›Full record

ArticleInternational journal of molecular sciences2024

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Jessica Petiti, Ymera Pignochino, Aurora Schiavon, Emilia Giugliano, Enrico Berrino, Giorgia Giordano, Federico Itri, Matteo Dragani, Daniela Cilloni, Marco Lo Iacono

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. Genetic associations with human longevity are enriched for oncogenic genes.medRxiv : the preprint server for health sciences · 2024
    Article
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

10 authors.

Jessica PetitiDivision of Advanced Materials Metrology and Life Sciences, Istituto Nazionale di Ricerca Metrologica (INRiM), 10135 Turin, Italy.ORCID 0000-0001-8640-2462
Ymera PignochinoDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0000-0001-5073-8618
Aurora SchiavonDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0009-0005-9796-3106
Emilia GiuglianoClinical and Microbiological Analysis Laboratory, San Luigi Gonzaga Hospital, 10043 Orbassano, Italy.
Enrico BerrinoCandiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.
Giorgia GiordanoCandiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.
Federico ItriDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0000-0002-3532-5281
Matteo DraganiDivision of Hematology and Cellular Therapies, San Martino Hospital, IRCCS, 16132 Genova, Italy.
Daniela CilloniDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0000-0001-6346-4791
Marco Lo IaconoDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0000-0002-3936-4472

Funding

Bank of Italy 1288699/21Fondazione CRT 2020.0757
6 · The paper itself

Abstract

Acute myeloid leukemia (AML) is a complex hematologic malignancy with high morbidity and mortality. Nucleophosmin 1 (NPM1) mutations occur in approximately 30% of AML cases, and NPM1-mutated AML is classified as a distinct entity. NPM1-mutated AML patients without additional genetic abnormalities have a favorable prognosis. Despite this, 30-50% of them experience relapse. This study aimed to investigate the potential of total RNAseq in improving the characterization of NPM1-mutated AML patients. We explored genetic variations independently of myeloid stratification, revealing a complex molecular scenario. We showed that total RNAseq enables the uncovering of different genetic alterations and clonal subtypes, allowing for a comprehensive evaluation of the real expression of exome transcripts in leukemic clones and the identification of aberrant fusion transcripts. This characterization may enhance understanding and guide improved treatment strategies for NPM1mut AML patients, contributing to better outcomes. Our findings underscore the complexity of NPM1-mutated AML, supporting the incorporation of advanced technologies for precise risk stratification and personalized therapeutic strategies. The study provides a foundation for future investigations into the clinical implications of identified genetic variations and highlights the importance of evolving diagnostic approaches in leukemia management.

Indexed as

Hematologic NeoplasmsLeukemia, Myeloid, AcuteClone CellsExomeHumansNuclear ProteinsNucleophosminNPM1 protein, humanNuclear ProteinsNucleophosminacute myeloid leukemianext-generation sequencingNPM1RNA/DNA variant calling

Identifiers

PMID38612443
PMCPMC11011776

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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.