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Cancers
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The Genetic Analysis and Clinical Therapy in Lung Cancer
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The Genetic Analysis and Clinical Therapy in Lung Cancer

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: 30 July 2025 | Viewed by 6036

Special Issue Editors

Dr. Francesca Colombo

E-Mail Website
Guest Editor
Istituto di Tecnologie Biomediche-Consiglio Nazionale delle Ricerche, Via F.lli Cervi 93, Segrate, Milano, Italy
Interests: lung cancer; survival; GWAS; germline variants; immunotherapy; pharmacogenomics
Dr. Frullanti Elisa

E-Mail Website
Guest Editor
Department of Medical Biotechnologies, University of Siena, Siena, Italy
Interests: cancer genetics; tumor progression; deep-next generation sequencing; liquid biopsy; circulating tumor DNA; personalized therapy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

While smoking stands as the predominant risk factor for lung cancer, genetics also plays a significant role in predisposing patients to this malignancy, with germline variations potentially influencing disease progression. Over recent decades, molecular profiling has emerged as a critical tool for stratifying patients based on specific somatic mutations, enabling the utilization of multiple targeted therapies. The introduction of immunotherapy has marked a revolution in lung cancer treatment, substantially enhancing patient outcomes. However, disease progression, resistance to targeted drugs and a lack of responsiveness to immunotherapy remain major challenges in NSCLC cancer treatment, which still has low survival rates.

Our Special Issue seeks to unravel the intricate genetic aspects of this complex disease, exploring somatic mutations, biomarkers, germline variants, and the molecular mechanisms that drive lung cancer. We aim to bridge the gap between scientific discovery and clinical practice, with a particular focus on personalized medicine approaches tailored to individual patients. This Special Issue also aims to explore therapeutic innovations, from targeted therapies to immunotherapies, as well as effective strategies to monitor or predict cancer resistance, with the goal of improving patient outcomes and quality of life.

We eagerly await your upcoming scientific contributions which will be published in Cancers (ISSN 2072-6694; Impact Factor 5.2), as we work towards a future where lung cancer is better understood and more effectively treated.

In this Special Issue, original research articles and reviews are welcome.

Dr. Francesca Colombo
Dr. Frullanti Elisa
Guest Editors

Manuscript Submission Information

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 communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • lung cancer
  • biomarkers
  • genetic variants
  • innovative technologies
  • targeted therapy
  • immunotherapy
  • personalized therapy
  • survival
  • liquid biopsy pharmacogenomics

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Published Papers (4 papers)

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Research

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13 pages, 2375 KiB  
Article
Presence of On-Target Resistant Mutation in Pre-Treatment Samples of ALK Fusion Gene Positive Lung Cancer Patients
by Weiting Li, Fenneke Zwierenga, Katarina D. Andini, Justyna M. Bucher, Frank Scherpen, T. Jeroen N. Hiltermann, Harry J. M. Groen, Anthonie J. van der Wekken, Klaas Kok and Anke van den Berg
Cancers 2025, 17(7), 1090; https://doi.org/10.3390/cancers17071090 - 25 Mar 2025
Viewed by 290
Abstract
A subset of ALK+ non-small cell lung cancer (NSCLC) patients relapse on ALK inhibitor (ALKi) treatment due to on-target resistance mutations affecting the tyrosine kinase domain. Objective: In this study, we investigated the presence of minor resistant clones in pre-treatment tissue samples and [...] Read more.
A subset of ALK+ non-small cell lung cancer (NSCLC) patients relapse on ALK inhibitor (ALKi) treatment due to on-target resistance mutations affecting the tyrosine kinase domain. Objective: In this study, we investigated the presence of minor resistant clones in pre-treatment tissue samples and assessed their predictive value for subsequent resistance mechanisms. Methods: Using the highly sensitive digital droplet (dd)PCR technique, we analyzed 40 tissue samples obtained from 17 patients who had developed on-target resistance mutations after receiving ALKi between 2013 and 2022. We focused on 10 on-target ALKi resistant mutations identified in our patient cohort. Results: Fifteen ALKi resistance mutations were detected in 13 samples from 11/17 patients. Among these, four mutations were observed as resistance mutations in follow-up biopsies taken after first or subsequent lines of ALKi. Comparison of the test results from two subsequent biopsies, before and directly after therapy, revealed presence of the resistance mutation identified upon relapse in the pre-treatment sample of three cases that were all taken from the same tumor location. In six cases taken from different tumor locations, the resistant mutations were not found in the pre-treatment sample. Conclusions: By using the highly sensitive ddPCR approach, we detected minor clones with on-target resistant mutations in both treatment-naive and relapse biopsies from ALK-positive NSCLC patients. The predictive value of these mutations as the potential resistance-causing mechanism was limited to relapses occurring at the same tumor location as the pre-treatment sample. Full article
(This article belongs to the Special Issue The Genetic Analysis and Clinical Therapy in Lung Cancer)
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17 pages, 2819 KiB  
Article
The Personalized Inherited Signature Predisposing to Non-Small-Cell Lung Cancer in Non-Smokers
by Viola Bianca Serio, Diletta Rosati, Debora Maffeo, Angela Rina, Marco Ghisalberti, Cristiana Bellan, Ottavia Spiga, Francesca Mari, Maria Palmieri and Elisa Frullanti
Cancers 2024, 16(16), 2887; https://doi.org/10.3390/cancers16162887 - 20 Aug 2024
Cited by 1 | Viewed by 1261
Abstract
Lung cancer (LC) continues to be an important public health problem, being the most common form of cancer and a major cause of cancer deaths worldwide. Despite the great bulk of research to identify genetic susceptibility genes by genome-wide association studies, only few [...] Read more.
Lung cancer (LC) continues to be an important public health problem, being the most common form of cancer and a major cause of cancer deaths worldwide. Despite the great bulk of research to identify genetic susceptibility genes by genome-wide association studies, only few loci associated to nicotine dependence have been consistently replicated. Our previously published study in few phenotypically discordant sib-pairs identified a combination of germline truncating mutations in known cancer susceptibility genes in never-smoker early-onset LC patients, which does not present in their healthy sib. These results firstly demonstrated the presence of an oligogenic combination of disrupted cancer-predisposing genes in non-smokers patients, giving experimental support to a model of a “private genetic epidemiology”. Here, we used a combination of whole-exome and RNA sequencing coupled with a discordant sib’s model in a novel cohort of pairs of never-smokers early-onset LC patients and in their healthy sibs used as controls. We selected rare germline variants predicted as deleterious by CADD and SVM bioinformatics tools and absent in the healthy sib. Overall, we identified an average of 200 variants per patient, about 10 of which in cancer-predisposing genes. In most of them, RNA sequencing data reinforced the pathogenic role of the identified variants showing: (i) downregulation in LC tissue (indicating a “second hit” in tumor suppressor genes); (ii) upregulation in cancer tissue (likely oncogene); and (iii) downregulation in both normal and cancer tissue (indicating transcript instability). The combination of the two techniques demonstrates that each patient has an average of six (with a range from four to eight) private mutations with a functional effect in tumor-predisposing genes. The presence of a unique combination of disrupting events in the affected subjects may explain the absence of the familial clustering of non-small-cell lung cancer. In conclusion, these findings indicate that each patient has his/her own “predisposing signature” to cancer development and suggest the use of personalized therapeutic strategies in lung cancer. Full article
(This article belongs to the Special Issue The Genetic Analysis and Clinical Therapy in Lung Cancer)
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Review

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35 pages, 2039 KiB  
Review
Recent Advances in the Clinical Translation of Small-Cell Lung Cancer Therapeutics
by Subhadeep Das and Shayak Samaddar
Cancers 2025, 17(2), 255; https://doi.org/10.3390/cancers17020255 - 14 Jan 2025
Cited by 1 | Viewed by 1883
Abstract
Small-cell lung cancer (SCLC) is a recalcitrant form of cancer, representing 15% of lung cancer cases globally. SCLC is classified within the range of neuroendocrine pulmonary neoplasms, exhibiting shared morphologic, ultrastructural, immunohistochemical, and molecular genomic features. It is marked by rapid proliferation, a [...] Read more.
Small-cell lung cancer (SCLC) is a recalcitrant form of cancer, representing 15% of lung cancer cases globally. SCLC is classified within the range of neuroendocrine pulmonary neoplasms, exhibiting shared morphologic, ultrastructural, immunohistochemical, and molecular genomic features. It is marked by rapid proliferation, a propensity for early metastasis, and an overall poor prognosis. The current conventional therapies involve platinum–etoposide-based chemotherapy in combination with immunotherapy. Nonetheless, the rapid emergence of therapeutic resistance continues to pose substantial difficulties. The genomic profiling of SCLC uncovers significant chromosomal rearrangements along with a considerable mutation burden, typically involving the functional inactivation of the tumor suppressor genes TP53 and RB1. Identifying biomarkers and evaluating new treatments is crucial for enhancing outcomes in patients with SCLC. Targeted therapies such as topoisomerase inhibitors, DLL3 inhibitors, HDAC inhibitors, PARP inhibitors, Chk1 inhibitors, etc., have introduced new therapeutic options for future applications. In this current review, we will attempt to outline the key molecular pathways that play a role in the development and progression of SCLC, together with a comprehensive overview of the most recent advancements in the development of novel targeted treatment strategies, as well as some ongoing clinical trials against SCLC, with the goal of improving patient outcomes. Full article
(This article belongs to the Special Issue The Genetic Analysis and Clinical Therapy in Lung Cancer)
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19 pages, 1262 KiB  
Review
Exploring the Role of CBX3 as a Potential Therapeutic Target in Lung Cancer
by Muhammad Aamir Wahab, Nunzio Del Gaudio, Biagio Gargiulo, Vincenzo Quagliariello, Nicola Maurea, Angela Nebbioso, Lucia Altucci and Mariarosaria Conte
Cancers 2024, 16(17), 3026; https://doi.org/10.3390/cancers16173026 - 30 Aug 2024
Cited by 1 | Viewed by 2010
Abstract
Epigenetic changes regulate gene expression through histone modifications, chromatin remodeling, and protein translation of these modifications. The PRC1 and PRC2 complexes shape gene repression via histone modifications. Specifically, the CBX protein family aids PRC1 recruitment to chromatin, impacting the progressive multistep process driving [...] Read more.
Epigenetic changes regulate gene expression through histone modifications, chromatin remodeling, and protein translation of these modifications. The PRC1 and PRC2 complexes shape gene repression via histone modifications. Specifically, the CBX protein family aids PRC1 recruitment to chromatin, impacting the progressive multistep process driving chromatin silencing. Among family members, CBX3 is a complex protein involved in aberrant epigenetic mechanisms that drive lung cancer progression. CBX3 promotes lung tumorigenesis by interacting with key pathways such as PI3K/AKT, Ras/KRAS, Wnt/β-catenin, MAPK, Notch, and p53, leading to increased proliferation, inhibition of apoptosis, and enhanced resistance to therapy. Given our current lack of knowledge, additional research is required to uncover the intricate mechanisms underlying CBX3 activity, as well as its involvement in molecular pathways and its potential biomarker evaluation. Specifically, the dissimilar roles of CBX3 could be reexamined to gain a greater insight into lung cancer pathogenesis. This review aims to provide a clear overview of the context-related molecular profile of CBX3, which could be useful for addressing clinical challenges and developing novel targeted therapies based on personalized medicine. Full article
(This article belongs to the Special Issue The Genetic Analysis and Clinical Therapy in Lung Cancer)
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