Evidence map›Paper›PMID 40361150›Full record

ArticleJournal of translational medicine2025

Genetic insight into lung neuroendocrine tumors: Notch and Wnt signaling pathways as potential targets.

Giulia Pecora, Camilla Mancini, Rossella Mazzilli, Virginia Zamponi, Stefano Telese, Stefano Scalera, Marcello Maugeri-Saccà, Ludovica Ciuffreda, Francesca De Nicola, Maurizio Fanciulli and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of translational medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

20 authors.

Giulia PecoraUnit of Endocrinology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, AOU Sant'Andrea, ENETS Center of Excellence, Rome, Italy.
Camilla ManciniUnit of Endocrinology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, AOU Sant'Andrea, ENETS Center of Excellence, Rome, Italy.
Rossella MazzilliUnit of Endocrinology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, AOU Sant'Andrea, ENETS Center of Excellence, Rome, Italy.
Virginia ZamponiUnit of Endocrinology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, AOU Sant'Andrea, ENETS Center of Excellence, Rome, Italy.
Stefano TeleseDepartment of Clinical and Molecular Medicine, Sant'Andrea Hospital-Sapienza University of Rome, Rome, Italy.
Stefano ScaleraClinical Trial Center, Biostatistics and Bioinformatics Division, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Marcello Maugeri-SaccàClinical Trial Center, Biostatistics and Bioinformatics Division, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Ludovica CiuffredaUOSD SAFU, Department of Research, Diagnosis and Innovative Technologies, Translational Research Area, IRCCS Istituto Nazionale Tumori Regina Elena, Rome, Italy.
Francesca De NicolaUOSD SAFU, Department of Research, Diagnosis and Innovative Technologies, Translational Research Area, IRCCS Istituto Nazionale Tumori Regina Elena, Rome, Italy.
Maurizio FanciulliUOSD SAFU, Department of Research, Diagnosis and Innovative Technologies, Translational Research Area, IRCCS Istituto Nazionale Tumori Regina Elena, Rome, Italy.
Anna La SalviaNational Center for Drug Research and Evaluation, National Institute of Health (ISS), Rome, Italy.
Massimiliano ManciniMorphologic and Molecular Pathology Unit, S. Andrea University Hospital, Rome, Italy.
Andrea VecchioneDepartment of Clinical and Molecular Medicine, Sant'Andrea Hospital-Sapienza University of Rome, Rome, Italy.
Alessandra SicilianiDepartment of Thoracic Surgery, Sant'Andrea University Hospital, Rome, Italy.
Mohsen IbrahimDepartment of Thoracic Surgery, Sant'Andrea University Hospital, Rome, Italy.
Diana BellaviaDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Andrea Marcello IsidoriDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Antongiulio FaggianoUnit of Endocrinology, Department of Clinical and Molecular Medicine, Sapienza University of Rome, AOU Sant'Andrea, ENETS Center of Excellence, Rome, Italy. antongiulio.faggiano@uniroma1.it.
Rita ManciniDepartment of Clinical and Molecular Medicine, Sant'Andrea Hospital-Sapienza University of Rome, Rome, Italy.
Claudia De VitisDepartment of Clinical and Molecular Medicine, Sant'Andrea Hospital-Sapienza University of Rome, Rome, Italy.

Funding

Associazione Italiana per la Ricerca sul Cancro IG24451Ministero dell'Università e della Ricerca B53C22004000006Sapienza Università di Roma RM12218167B3A0D3
6 · The paper itself

Abstract

backgroundThe molecular landscape of lung neuroendocrine neoplasms is still poorly characterized, making it difficult to develop a molecular classification and personalized therapeutic approaches. Significant clinical heterogeneity of these malignancies has been highlighted among poorly differentiated histotypes and within the subgroup of well-differentiated neuroendocrine tumors (NET). Currently, the main prognostic factors of lung NET include stage, histotype, grade, peripheral location, and demographic parameters. To gain deeper insights into the genomic underpinnings of lung NETs, we conducted a pilot investigation to uncover potential genetic mutations and copy number variations (CNVs) implicated in their pathogenesis.

methodsFormalin-fixed, paraffin-embedded intraoperative tumor biopsies and matched peripheral blood mononuclear cell samples were collected from six consecutive patients with lung NETs. The whole exome sequencing (WES) was performed to profile germline and somatic mutations, identify novel genetic alterations, and detect CNVs. Clinical and pathological data were systematically documented at diagnosis and during follow-up.

resultsThe WES analysis identified a subset of mutations shared between germline and somatic; some were of particular clinical interest as they were associated with tumor proliferation and potential therapeutic targets such as the genes KDM5C, ATR, COL7A1, NOTCH4, PTPRS, SMO, SPEN, SPTA1, TAF1. These mutations were predominantly linked to chromatin remodeling and were involved in critical oncogenic pathways such as Notch and Wnt signaling.

conclusionsThis pilot study highlights the potential role of NGS analysis on solid biopsy in the assessment of the mutational profile of lung NET. A comparison of germline and somatic mutations is critical to identifying putative tumor driver mutations. In perspective, the enrichment of a subpopulation of cancer cells in the blood, with one or more specific mutations, is information of enormous clinical relevance, either for prognosis or therapeutic decisions. Translational studies on large prospective series are required to establish the role of liquid biopsy in lung NET.

Indexed as

Lung NeoplasmsMolecular Targeted TherapyNeuroendocrine TumorsReceptors, NotchWnt Signaling PathwayAdultAgedDNA Copy Number VariationsExome SequencingFemaleHumansMaleMiddle AgedMutationPilot ProjectsReceptors, NotchCarcinoidsChromatin remodelingGermline mutationLung neuroendocrine tumorsNET epigeneticsNext generation sequencingNotch pathwaySomatic mutationWhole exome sequencingWnt pathway

Identifiers

PMID40361150
PMCPMC12076951

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Registered trials

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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.