Evidence map›Paper›PMID 42045100›Full record

ArticleInternational journal of laboratory hematology2026

Clinical Impact of Next-Generation Sequencing-Detected Mutations on Thrombotic Events in Myeloproliferative Neoplasms.

Ahmet Yigitbasi, Elif Gulsum Umit, Fulya Oz Puyan, Hakki Onur Kirkizlar, Tugcan Alp Kirkizlar, Nuray Can, Guray Aygun, Ahmet Muzaffer Demir

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Article in International journal of laboratory hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

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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

8 authors.

Ahmet YigitbasiTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0001-6216-595X
Elif Gulsum UmitTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0001-5589-3000
Fulya Oz PuyanTrakya University Faculty of Medicine, Department of Pathology, Edirne, Turkey.ORCID https://orcid.org/0000-0001-5853-0109
Hakki Onur KirkizlarTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0001-7523-8599
Tugcan Alp KirkizlarTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0002-1361-6213
Nuray CanTrakya University Faculty of Medicine, Department of Pathology, Edirne, Turkey.ORCID https://orcid.org/0000-0003-2554-6432
Guray AygunTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0001-5166-6716
Ahmet Muzaffer DemirTrakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey.ORCID https://orcid.org/0000-0002-2073-5405

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMyeloproliferative neoplasms (MPNs), encompassing polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are hematologic malignancies characterized by recurrent somatic mutations. Despite advances in next-generation sequencing (NGS), the genetic basis of thrombotic risk and bone marrow (BM) fibrosis in MPNs remains unclear.

methodsPatients diagnosed with classical MPN at Trakya University Faculty of Medicine were retrospectively analyzed (2018-2025). Mutation profiling was conducted on BM aspirates using a 78-gene panel on the Illumina NextSeq platform, with clinically relevant variants (VAF ≥ 2%) interpreted via Qiagen Clinical Insight.

resultsAmong 91 patients with MPN, the most frequent mutations were JAK2 (71.4%), TET2 (23.1%), DNMT3A (15.4%), ASXL1 (11%), and splicing factor mutations (SFMs; 12%). Arterial events occurred in 45.1% of patients and were associated with age (p < 0.001), higher Charlson Comorbidity Index (CCI; p < 0.001), ASXL1 (p:0.019), and SFMs (p:0.009). VTE occurred in 38.5% and was associated with JAK2 status and allele burden (p:0.004 and p:0.012 respectively), TET2 (p < 0.001), and SFMs (p:0.002); the JAK2/TET2 co-mutant subgroup had the highest risk of VTE risk in multivariable analysis (OR: 2.9, 95% CI: 1.4-5.7; p:0.002). Advanced BM fibrosis was associated with SFMs (p:0.018). Increased mutational burden correlated with both venous and arterial thrombosis (p:0.021 and p:0.044, respectively). In survival analyses, SFMs (HR: 5.2; p:0.008), ASXL1 (HR: 3.8; p:0.030), and PMF diagnosis (HR: 3.8; p:0.045) were associated with inferior overall survival (OS).

conclusionMolecular profiling may provide clinically relevant thrombotic risk stratification in classical MPNs. JAK2/TET2 co-mutation was linked to VTE, while ASXL1 and SFMs were associated with adverse phenotypes including vascular events, BM fibrosis, and inferior OS.

Indexed as

High-Throughput Nucleotide SequencingMutationMyeloproliferative DisordersThrombosisAdultAgedAged, 80 and overDioxygenasesFemaleHumansJanus Kinase 2MaleMiddle AgedRepressor ProteinsRetrospective StudiesDioxygenasesJanus Kinase 2Repressor ProteinsASXL1myeloproliferative neoplasmsnext‐generation sequencingsplicing factor mutationsTET2thrombosis

Identifiers

PMID42045100
PMCPMC13357844

What Socratic holds

Textmetadata
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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 Socratic graph.