Evidence map›Paper›PMID 40190073›Full record

ArticleInternational journal of laboratory hematology2025

Next Generation Sequencing Identifies Subgroups of Patients With Triple Negative Primary Thrombocytosis With Different Clinical Thrombotic Outcomes.

Valentina Sangiorgio, Federica Mottadelli, Fabio Pagni, Fabrizio Cavalca, Giovanni Cazzaniga, Martina Venegoni, Carlo Gambacorti-Passerini, Rocco Piazza, Elena Maria Elli

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In one paragraph

Article in International journal of laboratory hematology, 2025. 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

9 authors.

Valentina SangiorgioSchool of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Federica MottadelliTettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Fabio PagniSchool of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Fabrizio CavalcaDivision of Hematology and Bone Marrow Unit, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Giovanni CazzanigaSchool of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Martina VenegoniTettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Carlo Gambacorti-PasseriniSchool of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Rocco PiazzaSchool of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Elena Maria ElliDivision of Hematology and Bone Marrow Unit, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.

Funding

Antonio Castelnuovo Foundation, Cermenate, ItalyEuropean Joint Programme for Rare Diseases ERARE 2020Italian MUR Dipartimenti di Eccellenza 2023-2027 (l. 232/2016, art. 1, commi 314 - 337)the European Union, Next Generation EU through the Italian Ministry of University and Research under PNRR - M4C2-I1.3 project PE_00000019 "HEAL ITALIA"the Italian Association for Cancer Research grant IG-22082 and IG-29341This work was supported by the Italian Association for Cancer Research grant IG-22082 and IG-29341 (R.P.); Italian MUR Dipartimenti di Eccellenza 2023-2027 (l. 232/2016, art. 1, commi 314 - 337) (R.P.); the European Union, Next Generation EU through the Italian Ministry of University and Research under PNRR - M4C2-I1.3 project PE_00000019 "HEAL ITALIA" (R.P.); European Joint Programme for Rare Diseases ERARE 2020 (R.P.); Antonio Castelnuovo Foundation, Cermenate, Italy (C.G.-P.).
6 · The paper itself

Abstract

introductionThe majority of patients with essential thrombocythemia (ET) show somatic mutations of JAK2, CALR, or MPL. Around 10% of cases lack these mutations ("triple negative" ET, TN-ET). Additionally, some patients with bona fide "primary thrombocytosis" (PT) [i.e., high platelet (PLT)- count with no apparent underlying causes] do not fulfill the histologic criteria of ET. In this context, Next Generation Sequencing (NGS) can provide evidence of clonality and identify patients with different clinical behaviors.

methodsWe conducted a retro-prospective analysis of 39 patients with TN-PT and correlated the clinical and pathologic features with the molecular findings.

resultsBone marrow histopathological features were consistent with ET in 60% of cases. After a mean follow up of 11.1 years, no cases of secondary myelofibrosis nor acute leukemia were observed. We reported 15 thrombotic events (TEs) in 10 (25.6%) patients. Considering mutations with a variant frequency ≥ 5%, 15.4% of patients showed at least one mutation ("NGS-positive"); the remaining had no mutations ("NGS-negative"). NGS status predicted the incidence of TEs: NGS-positive patients experienced a significantly higher rate of TEs compared to NGS-negative patients (66.6% vs. 18.2%, respectively; p = 0.01).

conclusionNGS status represents an adjunctive risk factor for thrombosis in TN-PT and provides useful clinical information.

Indexed as

High-Throughput Nucleotide SequencingMutationThrombocythemia, EssentialThrombocytosisThrombosisAdultAgedAged, 80 and overCalreticulinFemaleHumansJanus Kinase 2MaleMiddle AgedProspective StudiesReceptors, ThrombopoietinCalreticulinCALR protein, humanJAK2 protein, humanJanus Kinase 2MPL protein, humanReceptors, Thrombopoietinbone marrowessential thrombocythemiamolecular geneticsmyeloproliferative syndromesthrombosis

Identifiers

PMID40190073
PMCPMC12426806

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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.