Review
Oncology
Mercedes Herrera-Juarez, Cristina Serrano-Gomez, Helena Bote-de-Cabo, Luis Paz-Ares
Summary: Precision oncology aims to design the best cancer treatment based on tumor biology. In NSCLC, patients with actionable genomic aberrations can benefit from targeted therapy, such as EGFR mutations and ALK rearrangements. Effective inhibitors have been developed for various druggable targets, leading to a paradigm shift in NSCLC treatment.
Article
Medicine, General & Internal
Jonnathan Roldan Ruiz, Marta Gracia Fuentes Gago, Luis Miguel Chinchilla Tabora, Idalia Gonzalez Morais, Jose Maria Sayagues, Mar Abad Hernandez, Maria Rosa Cordovilla Perez, Maria Dolores Ludena de la Cruz, Edel del Barco Morillo, Marta Rodriguez Gonzalez
Summary: In recent years, non-small cell lung cancer treatment has undergone a revolution with the use of EGFR tyrosine kinase inhibitors and improved understanding of its alterations. Liquid biopsies have emerged as a valuable tool in early diagnosis, monitoring treatment response, and predicting patient development. Our study on EGFR-mutated non-small cell lung cancer patients found that positive liquid biopsies for EGFR mutations were associated with significantly lower overall survival. This highlights the potential importance of liquid biopsies in improving disease control.
Review
Biochemistry & Molecular Biology
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Rui Manuel Reis, Leticia Ferro Leal
Summary: Lung cancer, the most deadly cancer globally, can be diagnosed and molecularly stratified using tissue biopsy. Liquid biopsy, a minimally invasive approach, allows the detection of biomarkers from body fluids for diagnosis, prognosis, and treatment response prediction. Liquid biopsy options for managing lung cancer have emerged, including the detection of EGFR p.(Tyr790Met) mutation in plasma samples to predict response and monitor TKI-treated patients. Efforts are ongoing to improve the detection of clinically relevant biomarkers for lung cancer using more sensitive technologies. Liquid biopsy can also significantly reduce turnaround time for laboratory reports, accelerating treatment initiation and improving overall survival of lung cancer patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Jordi Remon, Daniele Pignataro, Silvia Novello, Francesco Passiglia
Summary: Personalized treatment with TKIs has significantly improved outcomes for ROS1- and ALK-positive NSCLC patients, but access to next-generation TKIs and genomic profiling at the time of disease progression remains a major challenge.
CANCER TREATMENT REVIEWS
(2021)
Article
Oncology
Luigi Pasini, Michela Notarangelo, Alessandro Vagheggini, Marco Angelo Burgio, Lucio Crino, Elisa Chiadini, Andrea Iamurri Prochowski, Angelo Delmonte, Paola Ulivi, Vito Giuseppe D'Agostino
Summary: This study compared extracellular vesicle RNA as a source for multidimensional and longitudinal EGFR profiling in NSCLC patients and validated its effectiveness. The mutation analysis based on EV-RNA showed unprecedented sensitivity, and the resistance-associated mutation T790M was found to frequently pre-exist in patients.
MOLECULAR ONCOLOGY
(2021)
Article
Pharmacology & Pharmacy
Haoyue Hu, Songtao Tan, Meng Xie, Peng Guo, Qiang Yu, Juan Xiao, Kangrui Zhao, Qiong Liao, Yi Wang
Summary: In non-small cell lung cancer, concurrent genetic alterations of epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are rare, but their clinical and pathological characteristics are not well-defined, and the optimal treatment approach remains controversial. This report presents a case of stage IV lung adenocarcinoma with both EGFR and ALK mutations, along with high PD-L1 expression. The patient initially received treatment with EGFR tyrosine kinase inhibitors (TKIs), but the disease progressed, and regression was achieved following a switch to ALK-TKI therapy and local radiotherapy. Our report also provides a comprehensive summary of the clinical and pathological features, as well as treatment strategies, for NSCLC patients with concurrent EGFR mutation and ALK rearrangement.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Oncology
Matteo Villa, Geeta G. Sharma, Chiara Manfroni, Diego Cortinovis, Luca Mologni
Summary: Liquid biopsy, a new methodology of cancer testing based on blood tests, has the potential to predict cancer, monitor treatment response, and understand the mechanisms of relapse. It can help identify the genetic causes of relapse and guide next-line therapeutic choices. Research on tumors such as ALK-positive cancers shows that liquid biopsy is a non-invasive, easy to use, and repeatable tool.
Article
Multidisciplinary Sciences
Jiyoun Seo, Mihir Kumar, Jeremy Mason, Fiona Blackhall, Nicholas Matsumoto, Caroline Dive, James Hicks, Peter Kuhn, Stephanie N. Shishido
Summary: This study aimed to explore the potential of liquid biopsy for stratified treatment of small cell lung cancer (SCLC) based on phenotypic heterogeneity. The study observed phenotypic heterogeneity of circulating rare cells in SCLC and established a classification model to differentiate SCLC patients from non-cancerous donors. Single-cell genomic analysis confirmed the plasticity of cancer cells in these rare cell groups.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Ji Li, Wen Dong, Li Na Liu, Yi Jiang Huang, Mei Fang Xiao
Summary: The study found that patients with specific mutations who did not have detectable CTCs after surgery showed better RFS, and changes in cfDNA within 7 months post-surgery impacted risk detection. Monitoring CTCs and cfDNA variations in the short term holds promise for early risk detection and better disease control.
Article
Chemistry, Multidisciplinary
Swarna Ganesh, Priya Dharmalingam, Sunit Das, Krishnan Venkatakrishnan, Bo Tan
Summary: Lung cancer is a common and deadly disease, and accurate diagnosis of cancerous lesions is a challenge due to the lack of sensitive biomarkers. In this study, researchers developed an ultrasensitive nanosensor to detect specific immune-diagnostic signatures and achieved highly accurate diagnosis of lung cancer using T cells. This research shows the potential of immune diagnosis as a clinical technology for cancer management.
Article
Oncology
Yuki Katayama, Tadaaki Yamada, Keiko Tanimura, Shinsaku Tokuda, Kenji Morimoto, Soichi Hirai, Yohei Matsui, Ryota Nakamura, Masaki Ishida, Hayato Kawachi, Kazue Yoneda, Kazutaka Hosoya, Takahiro Tsuji, Hiroaki Ozasa, Akihiro Yoshimura, Masahiro Iwasaku, Young Hak Kim, Mano Horinaka, Toshiyuki Sakai, Takahiro Utsumi, Shinsuke Shiotsu, Takayuki Takeda, Ryohei Katayama, Koichi Takayama
Summary: In this study, it was found that epidermal growth factor receptor (EGFR) signaling is involved in adaptive resistance to lorlatinib in ALK-rearranged NSCLC. EGFR inhibition enhanced ALK inhibition-induced apoptosis and halted the proliferation of ALK-rearranged lung cancer cells. Combination therapy with EGFR inhibitor and lorlatinib significantly suppressed tumor regrowth after cessation of treatment. This study provides new insights into tumor evolution and the development of combined therapeutic strategies for ALK-rearranged lung cancer.
NPJ PRECISION ONCOLOGY
(2023)
Article
Oncology
Florian Janke, Arlou Kristina Angeles, Anja Lisa Riediger, Simone Bauer, Martin Reck, Albrecht Stenzinger, Marc A. Schneider, Thomas Muley, Michael Thomas, Petros Christopoulos, Holger Sueltmann
Summary: This study demonstrates the potential of DNA methylation biomarkers in prognosis and therapy monitoring of ALK-positive NSCLC patients. The research highlights the suitability of cfDNA methylation as a non-invasive biomarker for tumor detection and its correlation with other genomic alterations.
CLINICAL EPIGENETICS
(2022)
Article
Oncology
R. B. Verheijen, T. T. van Duijl, M. M. van den Heuvel, D. Vessies, M. Muller, J. H. Beijnen, J. M. Janssen, J. H. M. Schellens, N. Steeghs, D. van den Broek, A. D. R. Huitema
Summary: EGFR mutations in circulating tumor DNA were quantified in 249 plasma samples from 68 NSCLC patients, showing driver mutations increased in copy number several months before disease progression. Quantification of EGFR mutations in plasma ctDNA was predictive of treatment outcomes in NSCLC patients, particularly an increase in driver mutation copy number could predict disease progression.
CANCER CHEMOTHERAPY AND PHARMACOLOGY
(2021)
Article
Medical Laboratory Technology
Estela Sanchez-Herrero, Carmen Campos-Silva, Yaiza Caceres-Martell, Lucia Robado de Lope, Sandra Sanz-Moreno, Roberto Serna-Blasco, Alejandro Rodriguez-Festa, Dunixe Ares Trotta, Paloma Martin-Acosta, Cristina Patino, Maria Jose Coronado, Alexandra Beneitez, Ricardo Jara, Nerea Lago-Baameiro, Tamara Camino, Alberto Cruz-Bermudez, Maria Pardo, Victor Gonzalez-Rumayor, Mar Vales-Gomez, Mariano Provencio, Atocha Romero
Summary: ALK fusion transcripts can be detected in EV-enriched fractions obtained from cell cultures and plasma samples, providing a foundation for the development of EV-based noninvasive ALK testing in the future.
CLINICAL CHEMISTRY
(2022)
Article
Medicine, General & Internal
Isa Mambetsariev, Leonidas Arvanitis, Jeremy Fricke, Rebecca Pharaon, Angel R. Baroz, Michelle Afkhami, Marianna Koczywas, Erminia Massarelli, Ravi Salgia
Summary: EGFR-mutated lung adenocarcinoma patients can transform into SCLC after receiving TKI therapy. This study evaluated 9 patients who underwent such transformation and found that they had unique clinical, molecular, and histological characteristics at different time points. The findings are important for understanding the molecular heterogeneity and clinical outcomes of this EGFR TKI resistance subtype.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cell Biology
Tanja Niedermair, Meet Bhatt, Maximilian Babel, Moritz Feustel, Andreas Mamilos, Helmut Schweikl, Gerlinde Ferstl, Paul Hofman, Christoph Brochhausen
Summary: One major goal of biobanks is to provide optimal biospecimen quality, achieved through standardized procedures for collection, processing, and storage. Temporary storage of biosamples is necessary for maintaining sample quality, with considerations for dewar size, maximum storage time, and cryotube material.
BIOPRESERVATION AND BIOBANKING
(2023)
Editorial Material
Genetics & Heredity
Patrick Brest, Baharia Mograbi, Jocelyn Gal, Paul Hofman, Gerard Milano
Summary: Since the outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), studies have shown that host genetic background may contribute to the development of severe COVID-19. This summary focuses on genetic variations, such as in the SARS-CoV-2 receptor angiotensin-converting enzyme 2 or interferon signaling pathway, and their role in understanding why some individuals can develop severe COVID-19.
TRENDS IN GENETICS
(2023)
Review
Cell Biology
Paul Hofman, Marc G. Denis
Summary: The assessment of minimal residual disease (MRD) from blood samples has potential in optimizing patient care for resected non-small cell lung carcinoma (NSCLC). Evaluating MRD status can improve overall survival for early stage NSCLC patients and reduce the toxic effects and financial burden of treatment. Clinical trials have examined MRD in early stage NSCLC, highlighting the need to bridge the gap between research and routine practice. Further action is necessary to assess the relevance of MRD detection in interventional clinical studies, comparing different techniques, time points, and cutoffs. This article investigates and provides recommendations for optimizing MRD evaluation in NSCLC.
Article
Biochemistry & Molecular Biology
Marius Ilie, Jonathan Benzaquen, Veronique Hofman, Elodie Long-Mira, Sandra Lassalle, Jacques Boutros, Christophe Bontoux, Virginie Lespinet-Fabre, Olivier Bordone, Virginie Tanga, Maryline Allegra, Myriam Salah, Julien Fayada, Sylvie Leroy, Matteo Vassallo, Irit Touitou, Johan Courjon, Julie Contenti, Michel Carles, Charles-Hugo Marquette, Paul Hofman
Summary: As new SARS-CoV-2 variants emerge, it is important to improve the efficiency and availability of viral genome sequencing, especially in samples with low viral load. In this study, retrospective SARS-CoV-2 genome sequencing was performed on 175 positive samples, and the analysis successfully detected Delta and Omicron variants in low viral load samples. The results showed that there was no significant difference in viral load between patients infected with the Omicron variant and those infected with the Delta variant.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Olivia Vidal-Cruchez, Victoria J. Nicolini, Tifenn Rete, Karine Jacquet, Roger Rezzonico, Caroline Lacoux, Marie-Angela Domdom, Barnabe Romeo, Jeremie Roux, Arnaud Hubstenberger, Bernard Mari, Baharia Mograbi, Paul Hofman, Patrick Brest
Summary: Cancer therapies targeting the MAPK pathway lead to drug resistance. Overexpression of RAS has been linked to this resistance, but the underlying mechanisms are unclear. This study shows that MEK inhibitors increase translation of KRAS and NRAS oncogenes through liquid-liquid phase separation, specifically P-body dissolution. This feedback loop involving P-bodies and phase separation could be important for future targeted therapies.
Review
Oncology
Arnaud Martel, Lauris Gastaud, Christelle Bonnetaud, Sacha Nahon-Esteve, Kevin Washetine, Olivier Bordone, Myriam Salah, Virginie Tanga, Julien Fayada, Virginie Lespinet, Maryline Allegra, Salome Lalvee, Katia Zahaf, Stephanie Baillif, Corine Bertolotto, Baharia Mograbi, Sandra Lassalle, Paul Hofman
Summary: This study aims to present the challenges faced in obtaining biospecimens for research purposes in ophthalmic malignancies, and provides a detailed description of a dedicated biobank for ophthalmic malignancies. Currently, the number of biobanks dedicated to ophthalmic malignancies worldwide is very limited. The two main objectives in establishing an ophthalmic malignancy biobank are to collect scarce ophthalmic tumor samples and conduct large-scale translational research to better understand pathogenesis and discover new biomarkers for early diagnosis and targeted treatment.
Article
Health Care Sciences & Services
Veronique Hofman, Samantha Goffinet, Christophe Bontoux, Elodie Long-Mira, Sandra Lassalle, Marius Ilie, Paul Hofman
Summary: The detection of ROS1 rearrangements in metastatic non-squamous non-small cell lung carcinoma permits efficient targeted therapy. However, the rarity of ROS1 rearrangements, suboptimal specificity of ROS1 IHC, and limited availability of ROS1 FISH make the current testing algorithm challenging and time-consuming. RNA NGS can be a viable alternative to replace ROS1 IHC as a screening method.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Cell Biology
Sandy Giuliano, Christopher Montemagno, Marie-Angela Domdom, Manon Teisseire, Patrick Brest, Daniel J. Klionsky, Paul Hofman, Gilles Pages, Baharia Mograbi
Summary: Nearly fifty million older people suffer from neurodegenerative diseases, and this number is expected to triple by 2050. Defective lysosomal acidification and impairment of the autophagy pathway have been identified as modifiable risk factors for dementia. The long-term prescribing of lysosomotropic drugs to the elderly, such as proton pump inhibitors, chloroquine, and hydroxychloroquine, may be connected to the incidence of neurodegenerative diseases.
Review
Oncology
Edwin Roger Parra, Marius Ilie, Ignacio I. Wistuba, Paul Hofman
Summary: Over the past decade, there has been a revolution in cancer treatment with the shift towards targeted molecular therapies and immune-based therapies, particularly immune-checkpoint inhibitors (ICIs). However, not all patients with advanced non-small cell lung cancer (aNSCLC) benefit equally from immunotherapy, and there is a need for additional predictive markers for ICIs efficacy. Multiplex immunostaining, which evaluates multiple molecules in the tumor at the same time, shows promise in optimizing patient selection for ICIs. This review aims to explore the role of multiplex immunostaining in immuno-thoracic oncology and its current advantages and limitations in clinical practice.
BRITISH JOURNAL OF CANCER
(2023)
Review
Oncology
Patrick Brest, Baharia Mograbi, Gilles Pages, Paul Hofman, Gerard Milano
Summary: The combination of immune checkpoint inhibitors and anti-angiogenic agents shows promise in cancer treatment by enhancing response rates and prolonging progression-free survival. However, it also comes with increased side effects and requires careful monitoring.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Paul Hofman
Summary: The introduction of liquid biopsies has provided new therapeutic opportunities in thoracic oncology, especially for advanced nonsquamous non-small cell lung cancer patients. In Europe, liquid biopsies are frequently used for patients receiving tyrosine kinase inhibitors (TKIs) when tumor progression occurs. Tissue biopsies are necessary if the liquid biopsy fails to detect TKI resistance mechanisms. Liquid biopsy is recommended before first-line therapy if tissue or cytological material is inaccessible or insufficient in quantity or quality. Simultaneous performance of liquid biopsy and tissue biopsy before treatment or tumor progression is rare and its benefits to patient care need further evaluation. This review updates the complementarity of liquid biopsy and tissue biopsy for care of aNS-NSCLC patients.
TRANSLATIONAL ONCOLOGY
(2023)
Review
Pathology
Paul Hofman, Sabina Berezowska, Daniel Kazdal, Baharia Mograbi, Marius Ilie, Albrecht Stenzinger, Veronique Hofman
Summary: The evolving treatment options in thoracic oncology require regular updates in diagnostic algorithms by pathologists. The pathologist plays a crucial role in deciding whether to send specimens for further analysis and can quickly obtain more material if needed. Inadequate algorithms and sampling workflow can lead to inaccurate results, impacting treatment choices and patient outcomes.
Review
Medicine, General & Internal
Durgesh Wankhede, Christophe Bontoux, Sandeep Grover, Paul Hofman
Summary: mKRAS G12C mutation has been proven to be a promising prognostic factor for patients with non-small cell lung cancer (NSCLC), negatively impacting survival. Additionally, high PD-L1 expression in these tumors opens doors for potential therapeutic opportunities.
Article
Health Care Sciences & Services
Christophe Bontoux, Aubiege Marcovich, Samantha Goffinet, Florian Pesce, Virginie Tanga, Doriane Bohly, Myriam Salah, Kevin Washetine, Zeineb Messaoudi, Jean-Marc Felix, Christelle Bonnetaud, Lihui Wang, Geetha Menon, Jean-Philippe Berthet, Charlotte Cohen, Jonathan Benzaquen, Charles-Hugo Marquette, Sandra Lassalle, Elodie Long-Mira, Veronique Hofman, Luc Xerri, Marius Ilie, Paul Hofman
Summary: We established a lymphoma biobank in Nice, France, which contains high-quality biological materials and clinical data for lymphoma patients. The biobank is ISO 9001 and ISO 20387 certified and aims to support translational research projects into lymphoma.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Arnaud Martel, Baharia Mograbi, Barnabe Romeo, Lauris Gastaud, Salome Lalvee, Katia Zahaf, Julien Fayada, Sacha Nahon-Esteve, Christelle Bonnetaud, Myriam Salah, Virginie Tanga, Stephanie Baillif, Corine Bertolotto, Sandra Lassalle, Paul Hofman
Summary: Liquid biopsy and circulating tumor cell (CTC) screening have gained attention in the past two decades for detecting various solid malignancies. However, the lack of reproducibility due to different CTC platforms using different technologies is a major limitation for daily clinical use. This study compares the efficiency of four commercially available CTC platforms for detecting and identifying uveal melanoma cells. The results show significant differences in recovery rates among the platforms, highlighting the importance of considering other factors before using a CTC platform in clinical practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
