Article
Oncology
Maria Gabriela O. Fernandes, Natalia Cruz-Martins, Conceicao Souto Moura, Susana Guimaraes, Joana Pereira Reis, Ana Justino, Maria Joao Pina, Adriana Magalhaes, Henrique Queiroga, Jose Carlos Machado, Venceslau Hespanhol, Jose Luis Costa
Summary: Plasma ctDNA testing showed high accuracy and clinical relevance in newly diagnosed advanced NSCLC patients, highlighting its potential as a valuable tool for mutation detection in clinical practice.
Review
Cell Biology
Damien Vasseur, Hela Sassi, Arnaud Bayle, Marco Tagliamento, Benjamin Besse, Christophe Marzac, Ahmadreza Arbab, Nathalie Auger, Sophie Cotteret, Mihaela Aldea, Felix Blanc-Durand, Arthur Geraud, Anas Gazzah, Yohann Loriot, Antoine Hollebecque, Patricia Martin-Romano, Maud Ngo-Camus, Claudio Nicotra, Santiago Ponce, Madona Sakkal, Olivier Caron, Cristina Smolenschi, Jean-Baptiste Micol, Antoine Italiano, Etienne Rouleau, Ludovic Lacroix
Summary: FDA-approved next-generation sequencing assays based on cell-free DNA offer new opportunities in a molecular-tumor-board context. It allows studying tumor heterogeneity, elucidating resistance mechanisms, and adapting treatment strategies. However, lowering the limit of detection and increasing the size of the panels raise questions about detecting incidental germline alterations and occult malignancies.
Article
Medicine, General & Internal
Elisabetta Zulato, Valeria Tosello, Giorgia Nardo, Laura Bonanno, Paola Del Bianco, Stefano Indraccolo
Summary: The study demonstrates the feasibility of implementing an NGS-based liquid biopsy assay for routine genetic characterization of metastatic NSCLC patients. Statistical data shows that this method has high accuracy and reliability in detecting gene variants.
Review
Oncology
Paul Hofman
Summary: Liquid biopsy (LB) has become the only option to detect molecular targets for first-line treatment in treatment-naive NSCLC patients. Despite not being commonly used in diagnosis currently, Next-Generation Sequencing (NGS) shows the most promise for assessing genetic abnormalities.
Article
Oncology
Ariana Rostami, Scott Bratman, Kathy Han
Summary: Liquid biopsy approaches for detecting viral DNA play a crucial role in diagnosing virally-associated cancers. The CaptHPV method based on next-generation sequencing is discussed for its potential in detecting plasma HPV DNA in HPV-associated cancers and its potential clinical utility.
CLINICAL CANCER RESEARCH
(2021)
Article
Oncology
Chenglong Zhao, Jianghua Li, Yongchang Zhang, Rui Han, Yubo Wang, Li Li, Yimin Zhang, Mengxiao Zhu, Jie Zheng, Haiwei Du, Chen Hu, Chengzhi Zhou, Nong Yang, Shangli Cai, Yong He
Summary: This study found that the combination of carcinoembryonic antigen (CEA) and CYFRA21-1 can effectively predict the concordance between plasma and tissue biopsies, which can be used to evaluate the priority of plasma and tissue biopsies for gene testing and guide clinical applications in lung adenocarcinoma patients.
Article
Medicine, General & Internal
Aitor Rodriguez-Casanova, Aida Bao-Caamano, Ramon M. Lago-Leston, Elena Brozos-Vazquez, Nicolas Costa-Fraga, Isabel Ferreiros-Vidal, Ihab Abdulkader, Yolanda Vidal-Insua, Francisca Vazquez Rivera, Sonia Candamio Folgar, Rafael Lopez-Lopez, Laura Muinelo-Romay, Angel Diaz-Lagares
Summary: The study demonstrates that targeted NGS analysis of cfDNA with TST170 can effectively detect gene variants in metastatic CRC patients, showing high concordance with tumor tissue and BEAMing analysis.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Sehhoon Park, Steve Olsen, Bo Mi Ku, Min-Sang Lee, Hyun-Ae Jung, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Yoon-La Choi, Myung-Ju Ahn
Summary: This study analyzed the concordance of actionable genomic alterations in non-small cell lung cancer patients detected through circulating tumor DNA (ctDNA) and tissue sequencing. The results showed that ctDNA testing can identify additional actionable genomic alterations beyond tissue testing.
Article
Oncology
Sebastian Mondaca, Emily S. Lebow, Azadeh Namakydoust, Pedram Razavi, Jorge S. Reis-Filho, Ronglai Shen, Michael Offin, Hai-Yan Tu, Yonina Murciano-Goroff, Chongrui Xu, Alex Makhnin, Andres Martinez, Nick Pavlakis, Stephen Clarke, Malinda Itchins, Adrian Lee, Andreas Rimner, Daniel Gomez, Gaetano Rocco, Jamie E. Chaft, Gregory J. Riely, Charles M. Rudin, David R. Jones, Mark Li, Tristan Shaffer, Seyed Ali Hosseini, Caterina Bertucci, Lee P. Lim, Alexander Drilon, Michael F. Berger, Ryma Benayed, Maria E. Arcila, James M. Isbell, Bob T. Li
Summary: Liquid biopsy for plasma ctDNA NGS is effective in detecting ALK fusions with shorter turnaround time compared to tissue testing and high concordance rate. ctDNA can also match patients to ALK-directed therapy and detect mechanisms of treatment resistance.
Review
Pathology
Tianyu Qiu, Xinxin Zhi, Shengxiang Ren
Summary: NGS has greatly impacted the therapeutic landscape for lung cancer patients, including in perioperative settings and advanced stages, but challenges remain in standardization, bioinformatics analysis, and therapy selection. Research is needed to expand NGS applications, particularly in immunotherapy.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Oncology
Masato Kojima, Takanori Harada, Takahiro Fukazawa, Sho Kurihara, Ryo Touge, Isamu Saeki, Shinya Takahashi, Eiso Hiyama
Summary: In this study, single-cell next-generation sequencing of circulating tumor cells (CTCs) from neuroblastoma (NB) patients was performed. The findings showed that the isolation rate of CTCs was associated with disease progression, and single-cell RNA sequencing revealed upregulated genes related to angiogenesis and cell cycle in CTCs. These results indicate the utility of single-cell CTC sequencing in characterizing NB tumor biology and metastasis mechanisms.
Article
Oncology
Vincenza Caputo, Vincenzo De Falco, Anna Ventriglia, Vincenzo Famiglietti, Erika Martinelli, Floriana Morgillo, Giulia Martini, Carminia Maria Della Corte, Davide Ciardiello, Luca Poliero, Ferdinando De Vita, Michele Orditura, Morena Fasano, Renato Franco, Michele Caraglia, Arianna Avitabile, Roberto Scalamogna, Beatrice Marchi, Fortunato Ciardiello, Teresa Troiani, Stefania Napolitano
Summary: Recent evidence has shown the potential utility of next-generation sequencing (NGS) liquid biopsy as a noninvasive biomarker for cancer mutation profiling. In this study, 398 cancer patients were analyzed using FoundationOne Liquid Analysis (F1LA) and standard NGS diagnostic methods. The results demonstrated that F1LA had a higher clinical impact and feasibility compared to standard diagnostic methods. Furthermore, F1LA identified actionable alterations that offered unexpected therapeutic choices.
THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY
(2022)
Article
Oncology
Zeyun Lin, Yuqin Li, Shiqi Tang, Qiuhua Deng, Juhong Jiang, Chengzhi Zhou
Summary: This study compared the molecular profiles of tissue and plasma samples, and found that tissue-NGS has a higher sensitivity in detecting genetic alterations compared to plasma-NGS. Tissue-NGS remains the preferred method for evaluating the molecular profile of NSCLC patients when tumor tissue is available, but plasma can be used as substitute material when tissue is unavailable.
Article
Oncology
A. Markou, D. Londra, V Tserpeli, I Kollias, E. Tsaroucha, I Vamvakaris, K. Potaris, I Pateras, A. Kotsakis, V Georgoulias, E. Lianidou
Summary: This study evaluated the prognostic value of DNA methylation of selected tumor suppressor genes in circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in early stage non-small cell lung cancer (NSCLC). The results showed that the methylation of these genes was significantly lower in CTCs and ctDNA compared to primary tumors. The combination of DNA methylation analysis in CTCs and ctDNA was associated with worse prognosis in NSCLC patients.
CLINICAL EPIGENETICS
(2022)
Review
Biochemistry & Molecular Biology
Patricia Mondelo-Macia, Jorge Garcia-Gonzalez, Luis Leon-Mateos, Adrian Castillo-Garcia, Rafael Lopez-Lopez, Laura Muinelo-Romay, Roberto Diaz-Pena
Summary: Lung cancer is a leading cause of mortality worldwide, with small cell lung cancer being characterized by aggressiveness and short-lived treatment effects. Liquid biopsy has emerged as a new tool for the management of SCLC patients in recent years.
Article
Oncology
Anna Maria Rachiglio, Laura Forgione, Raffaella Pasquale, Carlo Antonio Barone, Evaristo Maiello, Lorenzo Antonuzzo, Antonino Cassata, Giuseppe Tonini, Roberto Bordonaro, Gerardo Rosati, Alberto Zaniboni, Sara Lonardi, Daris Ferrari, Giovanni Luca Frassineti, Stefano Tamberi, Salvatore Pisconti, Francesca Di Fabio, Cristin Roma, Armando Orlandi, Tiziana Latiano, Angela Damato, Giampaolo Tortora, Carmine Pinto, Nicola Normanno
Summary: This study suggests that RAS/BRAF mutations are relatively frequent in mCRC patients receiving anti-EGFR agents. However, the dynamics of RAS mutations in cfDNA are complex and may not be directly associated with resistance to treatment. Early appearance of RAS/BRAF mutations in the plasma of patients receiving first-line anti-EGFR agents should not be considered as a marker of resistance.
Review
Oncology
Monica Pinto, Dario Calafiore, Maria Carmela Piccirillo, Massimo Costa, Ozden Ozyemisci Taskiran, Alessandro de Sire
Summary: This scoping review explores the role of rehabilitation in breast cancer survivorship from an International Classification of Functioning Disability and Health (ICF) perspective. The study finds that breast cancer survivors face multi-dimensional disability issues, covering various categories of ICF BC Core Set (CCS) and all three areas of health. However, certain emerging issues in breast cancer survivorship are not included in the current ICF BC CCS. Rehabilitation is crucial in managing breast cancer survivorship, and the ICF BC CCS remains an essential tool in rehabilitation assessment, though it requires updating.
CURRENT ONCOLOGY REPORTS
(2022)
Article
Oncology
Caterina Ierano, Dario Righelli, Crescenzo D'Alterio, Maria Napolitano, Luigi Portella, Giuseppina Rea, Federica Auletta, Sara Santagata, Anna Maria Trotta, Giuseppe Guardascione, Federica Liotti, Nella Prevete, Piera Maiolino, Antonio Luciano, Antonio Barbieri, Annabella Di Mauro, Cristin Roma, Riziero Esposito Abate, Fabiana Tatangelo, Roberto Pacelli, Nicola Normanno, Rosa Marina Melillo, Stefania Scala
Summary: The study found that in PD-1 positive colorectal cancer cells, the anti-PD-1 nivolumab (NIVO) activates tumor survival pathways and protects tumor cells from conventional therapies. These findings highlight the important role of PD-1 in the development of colorectal cancer.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2022)
Article
Oncology
Crescenzo D'Alterio, Anna Spina, Laura Arenare, Paolo Chiodini, Maria Napolitano, Francesca Galdiero, Luigi Portella, Vittorio Simeon, Simona Signoriello, Francesco Raspagliesi, Domenica Lorusso, Carmela Pisano, Nicoletta Colombo, Gian Franco Zannoni, Nunzia Simona Losito, Rossella De Cecio, Giosue Scognamiglio, Daniela Califano, Daniela Russo, Valentina Tuninetti, Maria Carmela Piccirillo, Piera Gargiulo, Francesco Perrone, Sandro Pignata, Stefania Scala
Summary: Despite advances in research on epithelial ovarian cancer, this study systematically evaluated the CXCR4-CXCL12-CXCR7 axis in tumor and stromal cells, identifying a potential prognostic and therapeutic target in high CXCL12 expression in cancer cells. The study highlights the importance of further investigating the CXCL12 axis to improve treatment efficacy in EOC patients.
Review
Oncology
Vincenzo Sforza, Giuliano Palumbo, Priscilla Cascetta, Guido Carillio, Anna Manzo, Agnese Montanino, Claudia Sandomenico, Raffaele Costanzo, Giovanna Esposito, Francesca Laudato, Simona Damiano, Cira Antonietta Forte, Giulia Frosini, Stefano Farese, Maria Carmela Piccirillo, Giacomo Pascarella, Nicola Normanno, Alessandro Morabito
Summary: The identification of BRAF mutations in a small percentage of NSCLC patients has opened up new possibilities for targeted therapy. The combination of dabrafenib and trametinib has shown positive results and good safety profile for BRAF V600E metastatic NSCLC patients. However, there are still many unanswered questions regarding the role of other BRAF inhibitors, resistance mechanisms, and alternative therapeutic strategies for BRAF-mutated NSCLC.
Correction
Pathology
Riziero Esposito Abate, Melanie. H. H. Cheetham, Jennifer. A. A. Fairley, Raffaella Pasquale, Alessandra Sacco, Wolstenholme Nicola, Zandra. C. C. Deans, Simon. J. J. Patton, Nicola Normanno
Article
Pathology
Riziero Esposito Abate, Melanie H. Cheetham, Jennifer A. Fairley, Raffaella Pasquale, Alessandra Sacco, Wolstenholme Nicola, Zandra C. Deans, Simon J. Patton, Nicola Normanno
Summary: Tumor mutational burden (TMB) is an agnostic biomarker for immune checkpoint inhibitors, but its testing methods are not standardized. A pilot external quality assessment (EQA) scheme validated the materials and procedures for TMB testing and found significant variability in the results.
Article
Oncology
C. Cardone, A. De Stefano, G. Rosati, A. Cassata, L. Silvestro, M. Borrelli, E. Di Gennaro, C. Romano, A. Nappi, N. Zanaletti, F. Foschini, R. Casaretti, F. Tatangelo, S. Lastoria, M. Raddi, D. Bilancia, V. Granata, S. Setola, A. Petrillo, C. Vitagliano, P. Gargiulo, L. Arenare, A. Febbraro, E. Martinelli, F. Ciardiello, P. Delrio, A. Budillon, M. C. Piccirillo, A. Avallone
Summary: This study evaluated the activity of regorafenib in patients with RAS-mutant metastatic colorectal cancer. Regorafenib was found to be relatively well tolerated and effective in controlling disease progression, particularly in patients with favorable prognostic characteristics. Baseline metabolic assessment may be useful in selecting patients with a favorable outcome.
Article
Oncology
Maria Carmela Piccirillo, Quincy Chu, Penelope Bradbury, Wei Tu, Courtney H. Coschi, Federica Grosso, Marie Florescu, Manlio Mencoboni, John R. Goffin, Maria Pagano, Fortunato Ciardiello, Fabiana Letizia Cecere, Mark Vincent, Roberto Ferrara, David E. Dawe, Desiree Hao, Christopher W. Lee, Alessandro Morabito, Cesare Gridelli, Luigi Cavanna, Mussawar Iqbal, Normand Blais, Natasha B. Leighl, Paul Wheatley-Price, Ming-Sound Tsao, Francesca Ugo, Hazem El-Osta, Piera Gargiulo, Pierre-Olivier Gaudreau, Dongsheng Tu, Joana Sederias, Pamela Brown-Walker, Francesco Perrone, Lesley Seymour, Scott A. Laurie
Summary: Immune checkpoint inhibitors show efficacy in mesothelioma with potential for improved survival. A phase 2 trial comparing standard treatment with pembrolizumab (Pembro) combination therapy demonstrated tolerability and promising results, including longer median survival and higher overall response rate. A phase 3 trial is underway to further evaluate these findings, with results expected in 2023.
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Oncology
Sandro Pignata, Giovanni Scambia, Clorinda Schettino, Laura Arenare, Carmela Pisano, Davide Lombardi, Ugo De Giorgi, Claudia Andreetta, Saverio Cinieri, Carmine De Angelis, Domenico Priolo, Claudia Casanova, Marta Rosati, Filippo Greco, Elena Zafarana, Ilaria Schiavetto, Serafina Mammoliti, Sabrina Chiara Cecere, Vanda Salutari, Simona Scalone, Alberto Farolfi, Marilena Di Napoli, Domenica Lorusso, Piera Gargiulo, Daniela Califano, Daniela Russo, Anna Spina, Rossella De Cecio, Paolo Chiodini, Francesco Perrone
Summary: This study compared carboplatin and paclitaxel with avelumab plus carboplatin and paclitaxel as first-line treatment in patients with advanced or recurrent endometrial cancer. The addition of avelumab showed potential for improving progression-free survival, but further investigation is needed.
Review
Oncology
Albrecht Stenzinger, Arndt Vogel, Ulrich Lehmann, Angela Lamarca, Paul Hofman, Luigi Terracciano, Nicola Normanno
Summary: Cholangiocarcinomas are a heterogeneous group of tumors with distinct genomic alterations. Next-generation sequencing is a powerful tool for identifying gene variants and guiding personalized treatment for patients with cholangiocarcinomas. Understanding the use of NGS in molecular profiling is crucial for healthcare professionals to optimize treatment outcomes.
CANCER TREATMENT REVIEWS
(2024)
Article
Oncology
Nicola Normanno, Antonella De Luca, Riziero Esposito Abate, Alessandro Morabito, Michele Milella, Fabrizio Tabbo, Giuseppe Curigliano, Cristina Masini, Paolo Marchetti, Giancarlo Pruneri, Valentina Guarneri, Giovanni L. Frassineti, Gianpiero Fasola, Vincenzo Adamo, Bruno Daniele, Rossana Berardi, Florinda Feroce, Evaristo Maiello, Carmine Pinto
Summary: The Italian Register of Actionable Mutations is a multicentric observational study that collects next-generation sequencing data of patients with advanced solid tumors. The study identifies the rate of actionable mutations and highlights the utility of comprehensive genomic profiling in selected cancer patients.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Nicola Normanno, Jose Carlos Machado, Edoardo Pescarmona, Simonetta Buglioni, Lara Navarro, Riziero Esposito Abate, Anabela Ferro, Rob Mensink, Matilde Lambiase, Virginie Lespinet-Fabre, Byron Calgua, Philip M. Jermann, Marius Ilie, Paul Hofman
Summary: This multicenter study evaluated the performance of the Oncomine Dx Express Test on the Ion Torrent Genexus System for detecting DNA and RNA variants in solid tumors. The test showed high accuracy and sensitivity, providing results in a short turnaround time, which can support timely decision-making for targeted therapeutic interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
