Evidence map›Paper›PMID 41150842›Full record

ArticleBlood advances2026

Optical genome mapping in myelofibrosis: enhancing prognostic accuracy through high-resolution genomic profiling.

Álvaro Díaz-González, Elvira Mora, Marta Garrote, Gonzalo Carreño-Tarragona, Marta Salido, Irene Pastor-Galán, Ruth Stuckey, Adela Cisneros, José Antonio Domingo-Monfort, Nerea Uresandi-Iruin and 15 more

Abstract read
In one paragraph

Article in Blood advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

25 authors.

Álvaro Díaz-GonzálezDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.ORCID 0000-0002-3362-0316
Elvira MoraDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.ORCID 0000-0003-3361-8803
Marta GarroteHematopathology Section, Pathology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.ORCID 0000-0001-8571-1466
Gonzalo Carreño-TarragonaDepartment of Hematology, Hospital 12 de Octubre, Madrid, Spain.ORCID 0000-0002-9570-5542
Marta SalidoMolecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain.
Irene Pastor-GalánDepartment of Hematology, Hospital Clínico Universitario-Instituto de Investigación Sanitaria Hospital Clínico de Valencia, Valencia, Spain.ORCID 0000-0002-3872-2151
Ruth StuckeyDepartment of Hematology, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, Spain.ORCID 0000-0001-6955-2290
Adela CisnerosDepartment of Hematology, Institut Català d'Oncologia-Hospital Germans Trias i Pujol-Instituto de Investigación contra la Leucemia Josep Carreras, Badalona, Spain.ORCID 0000-0001-7284-3785
José Antonio Domingo-MonfortDepartment of Hematology, Hospital General de Albacete, Albacete, Spain.ORCID 0009-0004-4835-0381
Nerea Uresandi-IruinDepartment of Hematology, Hospital Universitario Donostia, San Sebastián, Spain.
Nagore Argoitia-ItuarteDepartment of Hematology, Hospital Universitario Donostia, San Sebastián, Spain.
Gayane AvetisyanDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Cristian García-RuizDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.ORCID 0000-0003-2914-7914
Neus Torres-HernándezDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Santiago FurióDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Eduardo Arellano-RodrigoDepartment of Hematology, Hospital Clínic, Barcelona, Spain.ORCID 0000-0001-6236-7826
Noemí ÁlvarezDepartment of Hematology, Hematological Malignancies Clinical Research Unit, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.
Patricia VélezDepartment of Hematology, Hospital del Mar, Barcelona, Spain.
Eva VillamónDepartment of Hematology, Hospital Clínico Universitario-Instituto de Investigación Sanitaria Hospital Clínico de Valencia, Valencia, Spain.ORCID 0000-0003-0636-3358
Adrián Segura-DíazDepartment of Hematology, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, Spain.
Rosa AyalaDepartment of Hematology, Hospital 12 de Octubre, Madrid, Spain.ORCID 0000-0002-2699-8353
Blanca EspinetMolecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain.ORCID 0000-0002-4294-8145
Alberto Álvarez-LarránDepartment of Hematology, Hospital Clínic, Barcelona, Spain.
Juan Carlos Hernández-BoludaDepartment of Hematology, Hospital Clínico Universitario-Instituto de Investigación Sanitaria Hospital Clínico de Valencia, Valencia, Spain.ORCID 0000-0002-4289-3113
Esperanza SuchDepartment of Hematology, Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.ORCID 0000-0001-6892-403X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

abstractAccurate genomic stratification is essential for guiding therapeutic decisions in myelofibrosis (MF), particularly regarding allogeneic stem cell transplant. Conventional chromosome banding analysis (CBA), however, has limited resolution and provides an informative karyotype in only about half of patients with MF. In a prospective series of 107 patients with primary or secondary MF, we compared optical genome mapping (OGM) plus targeted next-generation sequencing with CBA. OGM generated interpretable cytogenetic data for every sample, whereas CBA succeeded in fewer than half. In addition, OGM revealed structurally complex alterations and copy-neutral loss of heterozygosity that conventional methods missed. Integration of OGM results into contemporary prognostic models, including DIPSS-plus, GIPSS, and MIPSS70-plus version 2.0 (MIPSS70v2), refined risk allocation across the cohort. The greatest impact was observed for the transplant-oriented MIPSS70v2: the proportion of patients assigned to high-risk or very-high-risk categories increased from 19% with CBA alone to 36% after incorporating OGM findings. Incorporation of OGM data enabled full risk stratification of all 57 individuals with nonevaluable CBA karyotypes; 16 were assigned directly to the high-risk or very high MIPSS70v2 risk categories, a reclassification with immediate implications for transplant referral and follow-up intensity. This study represents the largest prospective evaluation of OGM in MF, demonstrating that OGM overcomes the limitations of CBA, uncovers clinically relevant cryptic alterations, and refines prognostic stratification. These findings support integrating OGM with targeted sequencing as a step toward precision medicine in MF.

Indexed as

Chromosome MappingGenomicsPrimary MyelofibrosisAdultAgedFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPrognosisProspective Studies

Identifiers

PMID41150842
PMCPMC12828823

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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.