Article
Oncology
Paola Ulivi, Milena Urbini, Elisabetta Petracci, Matteo Canale, Alessandra Dubini, Daniela Bartolini, Daniele Calistri, Paola Cravero, Eugenio Fonzi, Giovanni Martinelli, Ilaria Priano, Kalliopi Andrikou, Giuseppe Bronte, Lucio Crino, Angelo Delmonte
Summary: Molecular characterization of advanced non-small-cell lung cancer (NSCLC) is essential for treatment decision making, and next-generation sequencing (NGS) is the best strategy in this context. In this study, we analyzed a series of young NSCLC patients using a wide NGS gene panel assay. The most frequently mutated genes were TP53, KRAS, STK11, etc. We found a significant association between STK11 and KRAS mutations and high tumor mutational burden (TMB), while EGFR and EML4-ALK alterations were more common in tumors with low TMB. The results obtained from this approach showed perfect concordance with those obtained from a single or few genes approach.
Article
Oncology
Martin Zacharias, Gudrun Absenger, Karl Kashofer, Robert Wurne, Joerg Lindenmann, Angelika Terbuch, Selma Konjic, Stefan Sauer, Franz Gollowitsch, Gregor Gorkiewicz, Luka Brcic
Summary: The study demonstrated that incorporating RNA-based panels in the reflex testing approach leads to more detected fusions and increased targeted therapies for lung cancer patients. This comprehensive molecular profiling strategy helps identify patients with emerging biomarkers in the rapidly evolving landscape of targeted therapies.
TRANSLATIONAL LUNG CANCER RESEARCH
(2021)
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
Oncology
Pasquale Pisapia, Jose Luis Costa, Francesco Pepe, Gianluca Russo, Gianluca Gragnano, Alessandro Russo, Antonino Iaccarino, Diego de Miguel-Perez, Maria Jose Serrano, Valeria Denninghoff, Luca Quagliata, Christian Rolfo, Umberto Malapelle
Summary: Lung cancer is the leading cause of cancer death worldwide, with liquid biopsy technology showing promising applications in NSCLC patients. Molecular profiling of liquid biopsy specimens using next generation sequencing technologies is rapidly evolving.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Article
Respiratory System
Ya-Sian Chang, Siang-Jyun Tu, Yu-Chia Chen, Ting-Yuan Liu, Ya-Ting Lee, Ju-Chen Yen, Hsin-Yuan Fang, Jan-Gowth Chang
Summary: This study identified 19 known driver mutations and new variants in Taiwanese patients with non-small cell lung cancer. EGFR mutations were found at a higher frequency compared to Caucasians, while KRAS and TP53 mutations were less common. All ClinVar pathogenic variants were trunk mutations present in the tumor regions.
RESPIRATORY RESEARCH
(2021)
Article
Oncology
Shelley Kuang, Andrea S. Fung, Kirstin A. Perdrizet, Kaitlin Chen, Janice J. N. Li, Lisa W. Le, Michael Cabanero, Ola Abu Al Karsaneh, Ming S. Tsao, Josh Morganstein, Laura Ranich, Adam C. Smith, Cuihong Wei, Carol Cheung, Frances A. Shepherd, Geoffrey Liu, Penelope Bradbury, Prodipto Pal, Joerg Schwock, Adrian G. Sacher, Jennifer H. Law, Tracy L. Stockley, Natasha B. Leighl
Summary: In NSCLC patients, reflex testing using NGS panels can identify actionable genetic variants in the majority of cases with minimal increase in testing cost. Implementation of NGS panels is essential for the treatment of NSCLC patients as treatment paradigms continue to evolve.
Article
Oncology
Linlin Zhang, Shasha Guan, Fanlu Meng, Lin Teng, Diansheng Zhong
Summary: By using NGS to screen for gene mutations in NSCLC, HR gene mutations were found to be potentially associated with sensitivity to platinum-based chemotherapy. This suggests that HR gene mutations may serve as promising biomarkers for predicting sensitivity to platinum-based chemotherapy in advanced NSCLC.
FRONTIERS IN ONCOLOGY
(2022)
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.
Article
Oncology
Ching-Yao Yang, Jin-Yuan Shih, Wei-Yu Liao, Chao-Chi Ho, Chia-Lin Hsu, Tzu-Hsiu Tsai, Shang-Gin Wu, Yen-Ting Lin, Wei-Hsun Hsu, Suyog Jain, Steve Olsen, James Chih-Hsin Yang, Chong-Jen Yu, Pan-Chyr Yang
Summary: This study demonstrates that performing liquid NGS at the initial clinic visit for suspected advanced NSCLC can accurately identify patients suitable for targeted therapies and shorten the time to treatment initiation.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Oncology
Zizong Wang, Yushuai Han, Houquan Tao, Mengxiang Xu, Zhengchuang Liu, Jianhua Zhu, Wei Li, Jie Ma, Zhifang Liu, Weiran Wang, Tonghui Ma
Summary: ALK rearrangement, also known as the 'diamond mutation' in non-small cell lung cancer (NSCLC), plays a crucial role in determining the suitable candidates for ALK inhibitors. In this study, DNA-based next-generation sequencing (NGS) was used to identify ALK rearrangement-positive NSCLC cases and analyze their genomic breakpoints. The findings highlight the necessity of using RNA-based assays to confirm functional RNA fusions in cases with uncommon or frameshift rearrangements.
MOLECULAR ONCOLOGY
(2023)
Review
Oncology
Pasquale Pisapia, Francesco Pepe, Anna Baggi, Massimo Barberis, Antonio Galvano, Valerio Gristina, Fabrizio Mastrilli, Silvia Novello, Fabio Pagni, Silvia Pasini, Giuseppe Perrone, Daniela Righi, Antonio Russo, Giancarlo Troncone, Umberto Malapelle
Summary: The KWAY project aimed to investigate the economic sustainability of adopting upfront NGS technologies in analyzing molecular alterations in NSCLC patients. Different testing strategies were evaluated in Italian referral centers, with results verified through a sensitivity analysis to ensure consistency and cost-saving benefits of NGS adoption.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Summary: This study investigated genetic variations in Chinese NSCLC patients using next-generation sequencing, identifying common mutated genes and genes with copy number variation. GO and KEGG analyses revealed that these genes were mainly involved in tumor-related signaling pathways such as PI3K-Akt, FoxO, and Ras.
Article
Oncology
Roi Tschernichovsky, Itamar Averbuch, Daniel Alex Goldstein, Raz Mutai, Elizabeth Dudnik, Ofer Rotem, Smadar Laufer-Geva, Nir Peled, Yael Goldberg, Alona Zer
Summary: The prevalence and clinical relevance of BRCA mutations in NSCLC were evaluated. It was found that 24.5% of NSCLC patients had BRCA variants, and these patients had a less significant smoking history and prolonged progression-free survival with first-line chemo-immunotherapy.
TRANSLATIONAL LUNG CANCER RESEARCH
(2023)
Article
Oncology
Roi Tschernichovsky, Itamar Averbuch, Daniel Alex Goldstein, Raz Mutai, Elizabeth Dudnik, Ofer Rotem, Smadar Laufer-Geva, Nir Peled, Yael Goldberg, Alona Zer
Summary: The prevalence of BRCA mutations in non-small cell lung cancer (NSCLC) is low, but it has significant impact on disease course and treatment response. NSCLC patients with pBRCA mutations have a lower smoking history and show prolonged progression-free survival with first-line chemo-immunotherapy.
TRANSLATIONAL LUNG CANCER RESEARCH
(2023)
Article
Oncology
Caterina De Luca, Francesco Pepe, Antonino Iaccarino, Pasquale Pisapia, Luisella Righi, Angela Listi, Lorenza Greco, Gianluca Gragnano, Severo Campione, Gianfranco De Dominicis, Fabio Pagni, Roberta Sgariglia, Mariantonia Nacchio, Rossella Tufano, Floriana Conticelli, Elena Vigliar, Claudio Bellevicine, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle
Summary: Gene fusions are important predictive biomarkers for advanced NSCLC patients. A narrow NGS gene panel was developed and validated to cover relevant gene fusions and splicing events, demonstrating high efficiency in detecting these events in routine clinical samples.
Article
Pathology
Katsutoshi Seto, Masataka Haneda, Katsuhiro Masago, Shiro Fujita, Seiichi Kato, Eiichi Sasaki, Waki Hosoda, Yoshiko Murakami, Hiroaki Kuroda, Yoshitsugu Horio, Toyoaki Hida, Kenichi Okubo, Yasushi Yatabe
PATHOLOGY INTERNATIONAL
(2020)
Article
Oncology
Hiromichi Ebi, Hideaki Bando, Hiroya Taniguchi, Yu Sunakawa, Yoshinaga Okugawa, Yutaka Hatanaka, Waki Hosoda, Kensuke Kumamoto, Kaname Nakatani, Kentaro Yamazaki
Article
Oncology
Yusuke Kagawa, Hiromi Furuta, Takehiro Uemura, Naohiro Watanabe, Junichi Shimizu, Yoshitsugu Horio, Hiroaki Kuroda, Yoshitaka Inaba, Takeshi Kodaira, Katsuhiro Masago, Shiro Fujita, Akio Niimi, Toyoaki Hida
Letter
Oncology
Eiichi Sasaki, Katsuhiro Masago, Shiro Fujita, Michi Sawabe, Nobuhiro Hanai, Waki Hosoda
Article
Gastroenterology & Hepatology
Kohei Fujikura, Waki Hosoda, Matthaus Felsenstein, Qianqian Song, Johannes G. Reiter, Lily Zheng, Violeta Beleva Guthrie, Natalia Rincon, Marco Dal Molin, Jonathan Dudley, Joshua D. Cohen, Pei Wang, Catherine G. Fischer, Alicia M. Braxton, Michael Noe, Martine Jongepier, Carlos Fernandez-del Castillo, Mari Mino-Kenudson, C. Max Schmidt, Michele T. Yip-Schneider, Rita T. Lawlor, Roberto Salvia, Nicholas J. Roberts, Elizabeth D. Thompson, Rachel Karchin, Anne Marie Lennon, Yuchen Jiao, Laura D. Wood
Summary: This study conducted multiregion whole exome sequencing on IPMNs and identified hotspot mutations in KLF4 in both low-grade and high-grade regions. Mutations in KLF4 were more prevalent in low-grade IPMNs, highlighting distinct molecular features and diverse pathways to high-grade dysplasia.
Article
Multidisciplinary Sciences
Michael Noe, Noushin Niknafs, Catherine G. Fischer, Wenzel M. Hackeng, Violeta Beleva Guthrie, Waki Hosoda, Marija Debeljak, Eniko Papp, Vilmos Adleff, James R. White, Claudio Luchini, Antonio Pea, Aldo Scarpa, Giovanni Butturini, Giuseppe Zamboni, Paola Castelli, Seung-Mo Hong, Shinichi Yachida, Nobuyoshi Hiraoka, Anthony J. Gill, Jaswinder S. Samra, G. Johan A. Offerhaus, Anne Hoorens, Joanne Verheij, Casper Jansen, N. Volkan Adsay, Wei Jiang, Jordan Winter, Jorge Albores-Saavedra, Benoit Terris, Elizabeth D. Thompson, Nicholas J. Roberts, Ralph H. Hruban, Rachel Karchin, Robert B. Scharpf, Lodewijk A. A. Brosens, Victor E. Velculescu, Laura D. Wood
NATURE COMMUNICATIONS
(2020)
Article
Multidisciplinary Sciences
Shiro Fujita, Katsuhiro Masago
Summary: This study aimed to clarify the genetic factors contributing to the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer. Through germline exome sequencing in a cohort of patients and target resequencing on candidate genes, rare missense heterozygous variants in MSH6 and MLH1 were identified. The findings suggest a causal role of impaired DNA mismatch repair capacity in these malignancies.
SCIENTIFIC REPORTS
(2021)
Letter
Pathology
Eiichi Sasaki, Akari Iwakoshi, Katsuhiro Masago, Nobuhiro Hanai, Masahide Oki
Article
Oncology
Katsutoshi Seto, Junichi Shimizu, Katsuhiro Masago, Mitsugu Araki, Ryohei Katayama, Yukari Sagae, Shiro Fujita, Yoshitsugu Horio, Eiichi Sasaki, Hiroaki Kuroda, Kenichi Okubo, Yasushi Okuno, Toyoaki Hida
Summary: In this study, the sensitivity of BRAF tyrosine kinase inhibitor mechanism in patients with rare BRAF compound mutation was clarified and predicted using genetic analysis and computational simulation model. The results demonstrated the importance of constructing a genomic and simulation fused database for the development of personalized medicine in this field.
Article
Medicine, General & Internal
Katsuhiro Masago, Shiro Fujita, Yuko Oya, Yusuke Takahashi, Hirokazu Matsushita, Eiichi Sasaki, Hiroaki Kuroda
Summary: This study compared the QubitTM and NanoDropTM methods for quantification, finding that NanoDropTM measured higher DNA concentrations but not for RNA. The success rate of genomic tests using DNA samples below the QubitTM detection limit was as high as 96%, while the success rate for RNA tests was lower.
MEDICINA-LITHUANIA
(2021)
Article
Oncology
Miyako Tsuchiya, Yoshitsugu Horio, Hatsumi Funazaki, Kenjiro Aogi, Kazue Miyauchi, Yasuaki Arai, Miyako Takahashi
JAPANESE JOURNAL OF CLINICAL ONCOLOGY
(2020)
Article
Pathology
Eiichi Sasaki, Katsuhiro Masago, Shiro Fujita, Nobuhiro Hanai, Yasushi Yatabe
JOURNAL OF PATHOLOGY CLINICAL RESEARCH
(2020)
Article
Oncology
Masashi Nishimura, Yoshifumi Kimizuka, Takunori Ogawa, Motohiro Tsuchiya, Yoshiki Kato, Akira Matsukida, Shunya Igarashi, Koki Ito, Yusuke Serizawa, Tomomi Tanigaki, Yuji Fujikura, Yuka Katsurada, Sho Ogata, Akihiko Kawana
Summary: This study reports a case of IgG4-related retroperitoneal fibrosis occurring after chemotherapy. The patient showed improvement after discontinuing immunotherapy and receiving steroid treatment.
Article
Oncology
Yuta Ohishi, Yoko Nakanishi, Yukari Hirotani, Atsuko Suzuki, Tomoyuki Tanino, Haruna Nishimaki-Watanabe, Hiroko Kobayashi, Fumi Nozaki, Sumie Ohni, Xiaoyan Tang, Kentaro Hayashi, Yoshiko Nakagawa, Tetsuo Shimizu, Ichiro Tsujino, Noriaki Takahashi, Yasuhiro Gon, Shinobu Masuda
Summary: This study aimed to investigate the clinicopathological differences and therapeutic response of NSCLC patients with SDC4::ROS1 fusion to crizotinib. The study found that different ROS1 fusion partners may affect the efficacy of crizotinib and patient prognosis. In addition, higher expression levels of ROS1 and pERK1/2 in tumor cells of case 2 may be related to the therapeutic response and prognosis.
Review
Oncology
Zitong Zheng, Juanjuan Liu, Junling Ma, Runting Kang, Zhen Liu, Jiangyong Yu
Summary: Small cell lung cancer (SCLC) is a highly aggressive malignancy with limited treatment options. Over the past decade, immunotherapy has made progress in the treatment of SCLC, but current immune checkpoint inhibitors have limited benefits for patient survival. Therefore, it is important to explore new targets and develop drugs with novel mechanisms for immunotherapy in SCLC.
Article
Oncology
Kazuto Sugai, Kojiro Nakaoka, Rika Tobita, Shinji Kikuchi, Kei Inoue, Midori Enokido, Moriyuki Kiyoshima
Summary: This article presents a case of multilocular mediastinal cyst leading to the development of thymic cancer. Resection of multilocular anterior mediastinal cysts should be considered due to the challenges in preoperative diagnosis, the potential for coexisting tumors with cysts, and the risk of malignant tumor development.