Evidence map›Paper›PMID 41405018›Full record

ArticleThoracic cancer2025

Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

Eleonora Pardini, Federico Cucchiara, Serena Barachini, Marina Montali, Gisella Sardo Infirri, Irene Sofia Burzi, Michelangelo Maestri, Melania Guida, Roberta Ricciardi, Vanessa Nicolì and 7 more

Abstract read
In one paragraph

Article in Thoracic cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. 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

17 authors.

Eleonora PardiniDepartment of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Federico CucchiaraDepartment of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy.
Serena BarachiniDepartment of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Marina MontaliDepartment of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Gisella Sardo InfirriDepartment of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Irene Sofia BurziDepartment of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Michelangelo MaestriNeurological Unit, Department of Neuroscience, University Hospital of Pisa, Pisa, Italy.ORCID https://orcid.org/0000-0003-0960-4938
Melania GuidaNeurological Unit, Department of Neuroscience, University Hospital of Pisa, Pisa, Italy.
Roberta RicciardiNeurological Unit, Department of Neuroscience, University Hospital of Pisa, Pisa, Italy.
Vanessa NicolìMedical Genetics, Department of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Fabio CoppedèMedical Genetics, Department of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Diana BacchinThoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
Carmelina Cristina ZafiraRobotic surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy.
Vittorio AprileThoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
Franca MelfiRobotic surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy.
Marco LucchiThoracic Surgery, Department of Surgical, Medical and Molecular Pathology and Critical Care, University of Pisa, Pisa, Italy.
Iacopo PetriniDepartment of Translational Research and New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.

Funding

AIL PisaBando Salute Tuscany RegionTHYMOGENE project
6 · The paper itself

Abstract

backgroundThe molecular landscape of thymic epithelial tumors has been partially elucidated. GTF2I mutation drives the pathogenesis in approximately 50% of tumors; however, the key molecular aberrations in the other cases remain unclear.

methodsWe designed a panel including the most frequently mutated genes in thymic epithelial tumors and sequenced tumor and normal DNA from 70 patients prospectively accrued at a single institution in the Thymogene trial. Moreover, 19 neoplastic samples were dissociated to isolate tumor cells using flow cytometry.

resultsGTF2I mutations were the most common, being present in 41% of patients. GTF2I mutations were prevalent in type A and AB thymomas, in Stage I-II tumors, and in patients without myasthenia gravis. The unique pattern of mutually exclusive and co-occurring mutations suggests a distinct pathogenesis for thymomas with and without GTF2I mutation. In 39% of patients, no mutations were found in the 77 genes evaluated. The absence of epithelial cells in some dissociated tumors highlights the challenge of identifying mutations in a subset of thymic epithelial tumors that lack the GTF2I mutation. Mutational signatures, including COSMIC 1, 19, and 25, were enriched, possibly linked to 5'-methylcytosine deamination and the effects of chemotherapy.

conclusionsGTF2I mutations drive the growth of a significant portion of thymic epithelial tumors, often in conjunction with other gene mutations. Somatic mutations are not commonly found in many GTF2I wild-type tumors, where the underlying genomic abnormalities remain elusive, even when using a dedicated tool for sequencing thymic epithelial tumors.

Indexed as

MutationNeoplasms, Glandular and EpithelialThymus NeoplasmsAdultAgedFemaleHumansMaleMiddle AgedProspective StudiesGTF2Isomatic mutationsthymic carcinomathymic epithelial tumorsthymoma

Identifiers

PMID41405018
PMCPMC12709650

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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.