Evidence map›Paper›PMID 41464583›Full record

ReviewJournal of clinical medicine2025

How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.

Salvatore Perrone, Cristina Tresoldi, Silvia Rigamonti, Matteo Molica, Nadezda Zhdanovskaya, Laura Cicconi

Abstract readReview
In one paragraph

Review in Journal of clinical medicine, 2025. 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. 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

6 authors.

Salvatore PerroneDepartment of Hematology, Santa Maria Goretti Hospital, Polo Universitario Pontino, 04100 Latina, Italy.ORCID 0000-0001-8196-0481
Cristina TresoldiMolecular Hematology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy.ORCID 0000-0001-7711-5621
Silvia RigamontiMolecular Hematology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy.ORCID 0009-0002-6391-2974
Matteo MolicaDepartment of Hematology-Oncology, Azienda Ospedaliera Pugliese-Ciaccio, 88100 Catanzaro, Italy.ORCID 0000-0001-6391-4406
Nadezda ZhdanovskayaHematology, Department of Translational and Precision Medicine, Sapienza University, 00161 Rome, Italy.ORCID 0000-0003-1973-1121
Laura CicconiDepartment of Hematology, Santa Maria Goretti Hospital, Polo Universitario Pontino, 04100 Latina, Italy.ORCID 0000-0001-5642-3051

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acute myeloid leukemia (AML) and myelodysplastic neoplasms (MDS) are clonal hematopoietic malignancies in which next-generation sequencing (NGS) has become integral for diagnosis, classification, risk stratification, and measurable residual disease (MRD) monitoring. Traditional cytogenetic and PCR-based assays remain useful, but targeted NGS panels now represent the standard of care, providing rapid and sensitive detection of recurrent gene mutations, structural variants, and gene fusions. Whole-genome, whole-exome, and RNA sequencing and long-read platforms expand the spectrum of detectable alterations, though targeted panels remain most practical for routine diagnostics. Bioinformatic pipelines and quality metrics-including read length, sequencing depth, and coverage-are critical for accurate variant calling, with validation often required for variants of uncertain significance or those near detection thresholds. NGS is now embedded in diagnostic frameworks, including the WHO 2022 and ICC classifications, which incorporate recurrently mutated genes such as

Indexed as

acute myeloid leukemia (AML)germline predisposition to myeloid neoplasmsmeasurable residual disease (MRD)myelodysplastic neoplasms (MDS)next-generation sequencing (NGS)NGS-report

Identifiers

PMID41464583
PMCPMC12733557

What OpenQuestion holds

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Registered trials

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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.