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Genomic-Defined Non-Small Lung Cancer (NSCLC) in the Real World: From Biology to Clinical Approaches

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 3745

Editor

Prof. Dr. Eric Santoni-Rugiu

E-Mail Website
Guest Editor
1. Department of Pathology, Diagnostic Center, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark
2. Department of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark
Interests: non-small cell lung cancer; molecular alterations; novel biomarkers; diagnosis; predictive biomarkers; intrinsic & acquired TKI-resistance
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Mounting data indicate that the outcome of real-world patients with advanced NSCLC harboring genomic alterations is worse than that reported in randomized clinical studies. With this Special Issue, we would like to emphasize real-world data on NSCLC patients with genomic driver alterations.

The treatment landscape for these patients is constantly changing. Advances in understanding the biology of NSCLC with defined druggable targets are based not only on well-tailored diagnostics, but also on recognizing the importance of molecular co-alterations that may shape the disease course. All this is happening at a time when new promising treatments are emerging; however, it is not always clear which patients may benefit from them, and which have intrinsically resistant tumors. Additionally, disease progression due to acquired resistance requires an individualized approach based on tissue rebiopsies and/or liquid biopsies as well as clinical features.

Thus, in this Special Issue (led by Prof. Dr. Eric Santoni-Rugiu, with the assistance of Dr. Edyta Maria Urbanska from Copenhagen University Hospital), we would like to highlight the challenges in understanding, diagnosing and treating genomic-defined NSCLC in the real world and encourage molecular biologists, pathologists, and clinicians to share their experiences.

With this Special Issue of IJMS, contributions in the form of original research articles, short communications, reviews, and case reports are welcomed.

Prof. Dr. Eric Santoni-Rugiu
Guest Editor

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Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • genomic-defined NSCLC
  • molecular diagnostics
  • actionable targets
  • intrinsic resistance
  • acquired resistance

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Published Papers (2 papers)

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Research

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15 pages, 2059 KB  
Article
Improvement of Diagnostics in NSCLC Patients with MET Exon 14 Mutations Using Complementary DNA/RNA-NGS and Identification of Two Novel Exonic Splicing Mutations
by Edyta Maria Urbanska, Thomas Koed Doktor, Linea Cecilie Melchior, Eva Stampe Petersson, Jens Benn Sørensen, Eric Santoni-Rugiu, Brage Storstein Andresen and Morten Grauslund
Int. J. Mol. Sci. 2026, 27(1), 106; https://doi.org/10.3390/ijms27010106 - 22 Dec 2025
Cited by 1 | Viewed by 2053
Abstract
MET exon 14 (METex14) skipping mutations differ from other non-small cell lung cancer (NSCLC) genomic biomarkers as they result in aberrantly spliced MET transcripts and increased MET-signaling. However, the most accurate method for their detection remains debated. We conducted a retrospective [...] Read more.
MET exon 14 (METex14) skipping mutations differ from other non-small cell lung cancer (NSCLC) genomic biomarkers as they result in aberrantly spliced MET transcripts and increased MET-signaling. However, the most accurate method for their detection remains debated. We conducted a retrospective study of previously identified METex14 skipping NSCLC samples by using different, commercially available, diagnostic targeted DNA- /RNA-Next-Generation Sequencing (NGS) panels. We primarily used small DNA-NGS panels covering the 5′ splice site of METex14 and supplemented by targeted RNA sequencing for selected cases. Using this approach, we identified <0.2% patients with METex14 mutations. Due to this low frequency, we validated and introduced complementary NGS testing using combined DNA/RNA-panels. This resulted in an increased number of METex14-positive patients (3.5%) and allowed us to identify METex14 skipping transcripts. Collectively, data from our cohort (n = 34) demonstrated that optimal diagnostics of METex14 variants require a complementary DNA-NGS performed with targeted panels covering both METex14 splice sites, and RNA-NGS. Consequently, we propose a new workflow for interpretation of concordant and discordant findings in METex14 detection. Finally, the potential of DNA-identified METex14 variants to cause aberrant splicing was in silico assessed by the MaxEntScan tool, providing a quantitative approach to splicing disruption. Interestingly, we also identified two novel variants located inside METex14, which also produced the METex14 skipping transcript despite being located outside the canonical splice sites. The altered binding site resulting from these exonic mutations was in silico determined by SpliceTransformer. Full article
(This article belongs to the Special Issue Genomic-Defined Non-Small Lung Cancer (NSCLC) in the Real World: From Biology to Clinical Approaches)
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Review

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15 pages, 5984 KB  
Review
HER2 Therapies in Non-Small Cell Lung Cancer (NSCLC)
by Fedor Wadi Richani Meinhardt, Mijail I. Zambrano Iglesias, María P. Fernández Gómez, Jesús F. Saltaren Fonseca, Atif Hussein and Luis E. Raez
Int. J. Mol. Sci. 2026, 27(11), 4910; https://doi.org/10.3390/ijms27114910 - 29 May 2026
Cited by 1 | Viewed by 1274
Abstract
This review discusses the role of human epidermal growth factor receptor 2 (HER2/ERBB2) as a key oncogenic driver in non-small cell lung cancer (NSCLC), including exon 20 activating mutations, gene amplification, and protein overexpression. These forms differ in their biological effects [...] Read more.
This review discusses the role of human epidermal growth factor receptor 2 (HER2/ERBB2) as a key oncogenic driver in non-small cell lung cancer (NSCLC), including exon 20 activating mutations, gene amplification, and protein overexpression. These forms differ in their biological effects and predictive value, but HER2 mutations, especially exon 20 insertions, are the primary oncogenic mechanism. Regarding diagnosis, Next-Generation Sequencing (NGS) is used to identify mutations, whereas Immunohistochemistry (IHC) and in situ hybridization are used to assess HER2 expression. Concerning treatment, in advanced HER2-positive, Non-Squamous NSCLC tumors, the first-line treatment is Platinum-based + Pemetrexed chemotherapy, with or without immunotherapy, because no HER2-targeted antibody therapy has yet been approved for initial treatment. After progression, HER2-targeted antibody-drug conjugates like Trastuzumab-Deruxtecan and Ado Trastuzumab-Emtansine may offer patients clinical benefits. New HER2-selective tyrosine kinase inhibitors, such as zongertinib and sevabertinib, have shown promising results, including patients previously treated with antibody–drug conjugates (ADCs). Recent advances, including next-generation ADCs such as SHR-A1811 and A166, and bispecific antibodies, such as zenocutuzumab for NRG1 fusion–positive disease, which are also expanding treatment options. Overall, advances in diagnostics and new targeted therapies are changing how HER2-altered NSCLC is treated and are helping to make care more personalized. Full article
(This article belongs to the Special Issue Genomic-Defined Non-Small Lung Cancer (NSCLC) in the Real World: From Biology to Clinical Approaches)
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