Evidence map›Paper›PMID 41812316›Full record

ArticleESMO open2026

Somatic and germline genomic variation in thymic carcinomas.

F Tettamanzi, C De Carlo, C Cappadona, D Giuliano, V Rimoldi, C Piombo, L G Cecchi, S Zanella, G Marulli, E Voulaz and 5 more

Abstract read
In one paragraph

Article in ESMO open, 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. Review
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

15 authors.

F TettamanziIRCCS Humanitas Research Hospital, Milan, Italy.
C De CarloDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; Pathology Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
C CappadonaIRCCS Humanitas Research Hospital, Milan, Italy.
D GiulianoTranslational Genomic Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
V RimoldiIRCCS Humanitas Research Hospital, Milan, Italy.
C PiomboPathology Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
L G CecchiIRCCS Humanitas Research Hospital, Milan, Italy; Department of Biomedical Sciences, Humanitas University, Milan, Italy.
S ZanellaPathology Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
G MarulliDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; Division of Thoracic Surgery, IRCCS Humanitas Research Hospital, Milan, Italy.
E VoulazDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; Division of Thoracic Surgery, IRCCS Humanitas Research Hospital, Milan, Italy.
G VeronesiSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy; Department of Thoracic Surgery, IRCCS San Raffaele Scientific Institute, Milan, Italy.
S MarchiniLaboratory of Cancer Pharmacology, IRCCS Humanitas Research Hospital, Milan, Italy.
L Di TommasoDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; Pathology Unit, IRCCS Humanitas Research Hospital, Milan, Italy.
P A ZucaliDepartment of Biomedical Sciences, Humanitas University, Milan, Italy; Department of Oncology, IRCCS Humanitas Research Hospital, Milan, Italy.
R AsseltaIRCCS Humanitas Research Hospital, Milan, Italy; Department of Biomedical Sciences, Humanitas University, Milan, Italy. Electronic address: rosanna.asselta@hunimed.eu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThymic carcinoma (TC) is a rare and aggressive neoplasm of thymic epithelial origin, with no currently available biomarkers to guide treatment or prognosis. In this study, we aimed at characterizing the genomic landscape of a cohort of TCs, at somatic and germline levels. MATERIALS AND

methodsWhole-exome sequencing was carried out on 25 TC archival samples and 17 histologically normal adjacent tissues. Genomic characteristics and their association with clinical outcomes were assessed.

resultsHigh tumor mutational burden (TMB) and microsatellite instability were present in 8% and ∼30% of the study cohort. Somatic mutations in 20 core genes of DNA damage response (DDR) were associated with high TMB (P = 0.005) and worse overall survival (OS) [hazard ratio 5.05 (95% confidence interval 1.49-17.20), P = 0.010]. Putative pathogenic variants in the core DDR genes were frequently detected in the germline as well (35%). Among somatic alterations, driver genes included POLE, MTOR, and ATR (12%). Notably, ∼30% of patients harbored mutations matching biomarkers of response to currently available therapies such as poly (ADP-ribose) polymerase inhibitors. Somatic copy number profiles were heterogeneous; however, several amplification and deletion events were identified as recurrent across tumors.

conclusionsTC appears to be a heterogeneous disease, exhibiting varying genomic alteration rates. Several somatic and germline aberrations, some of which have been reported in this article for the first time, warrant further investigation for their hinted prognostic value and clinical implications.

Indexed as

ThymomaThymus NeoplasmsAdultAgedBiomarkers, TumorFemaleGenomicsGerm-Line MutationHumansMaleMicrosatellite InstabilityMiddle AgedMutationPrognosisBiomarkers, Tumorcopy number alterationsmicrosatellite instabilitysomatic and germline variantsthymic carcinomatumor mutational burden

Identifiers

PMID41812316
PMCPMC12995489

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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.