Article
Multidisciplinary Sciences
Xiao Zhou, Zhen Cheng, Mingyu Dong, Qi Liu, Weiyang Yang, Min Liu, Junzhang Tian, Weibin Cheng
Summary: A diagnostic model using tumor fractions deciphered from circulating cfDNA methylation signatures has been developed for early-stage cancer detection, exhibiting an 86% sensitivity. The approach demonstrates the potential of tumor fractions in cancer early diagnosis, which can be further utilized for cancer screening and tumor progression monitoring.
NATURE COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Sadia Hassan, Adeeb Shehzad, Shahid Ali Khan, Waheed Miran, Salman Khan, Young-Sup Lee
Summary: The advancements in molecular biology and genomics have accelerated early diagnosis and clinical management of cancer. Circulating-free DNA (cfDNA) and cellfree RNA (cfRNA) based liquid biopsies play crucial roles in cancer diagnosis, prognosis, prediction, and treatment, with their sensitivity and specificity clinically proven through multiple trials.
Article
Biology
Ilana Fox-Fisher, Sheina Piyanzin, Bracha Lea Ochana, Agnes Klochendler, Judith Magenheim, Ayelet Peretz, Netanel Loyfer, Joshua Moss, Daniel Cohen, Yaron Drori, Nehemya Friedman, Michal Mandelboim, Marc E. Rothenberg, Julie M. Caldwell, Mark Rochman, Arash Jamshidi, Gordon Cann, David Lavi, Tommy Kaplan, Benjamin Glaser, Ruth Shemer, Yuval Dor
Summary: The immune cell type-specific methylation patterns in circulating cell-free DNA (cfDNA) can be used for studying human immune cell dynamics and provide a novel biomarker for monitoring immune responses to physiological and pathological processes.
Article
Multidisciplinary Sciences
Guanhua Zhu, Yu A. Guo, Danliang Ho, Polly Poon, Zhong Wee Poh, Pui Mun Wong, Anna Gan, Mei Mei Chang, Dimitrios Kleftogiannis, Yi Ting Lau, Brenda Tay, Wan Jun Lim, Clarinda Chua, Tira J. Tan, Si-Lin Koo, Dawn Q. Chong, Yoon Sim Yap, Iain Tan, Sarah Ng, Anders J. Skanderup
Summary: Profiling of ctDNA using local tissue-specific cfDNA degradation patterns accurately estimates ctDNA burden, while predictive power of 6 specific regulatory regions is strong. A quantitative model and compact targeted sequencing enable low-cost tracking of ctDNA dynamics and disease progression across colorectal and breast cancer patients.
NATURE COMMUNICATIONS
(2021)
Article
Medicine, General & Internal
Jonathan S. F. Nyaw, K. M. Cheung, F. Hioe, Michael T. Y. Kam, Johnny K. S. Lau, Y. M. Lau, Dennis K. C. Leung, Fiona M. Y. Lim
Summary: The T790M mutation in the epidermal growth factor receptor gene is the main cause of acquired resistance to EGFR-TKIs in advanced NSCLC. Testing for T790M can guide subsequent treatment. This article discusses key issues regarding T790M testing practices in Hong Kong and provides consensus statements and workflow for clinicians.
HONG KONG MEDICAL JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Vassilis M. Papadakis, Christina Cheimonidi, Maria Panagopoulou, Makrina Karaglani, Paraskevi Apalaki, Klytaimnistra Katsara, George Kenanakis, Theodosis Theodosiou, Theodoros C. Constantinidis, Kalliopi Stratigi, Ekaterini Chatzaki
Summary: In this study, Raman spectroscopy was used to analyze the biomolecular characteristics of cell-free DNA (ccfDNA) in the blood of individuals with different health conditions. The study found distinct spectral patterns in ccfDNA from breast cancer patients undergoing neoadjuvant therapy, as well as some differences in the biomolecular fingerprints of ccfDNA from healthy, prediabetic, and diabetic males. The analysis also confirmed that ccfDNA mirrors its cellular origin. Overall, the study highlights the potential of Raman spectroscopy as a new approach for liquid biopsy diagnostics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Yazan Haddad, Marek Remes, Vojtech Adam, Zbynek Heger
Summary: The study utilized variations in 110 crystal structures to assemble eight distinct families highlighting the C-helix orientation in the N-lobe of the EGFR kinase domain. These families shared similar mutational profiles, ligand R-groups facing the C-helix, mutation sites, and DFG domain.
DRUG DISCOVERY TODAY
(2021)
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
Monica Higuera, Elena Vargas-Accarino, Maria Torrens, Josep Gregori, Maria Teresa Salcedo, Joan Martinez-Camprecios, Gloria Torres, Maria Bermudez-Ramos, Itxarone Bilbao, Mercedes Guerrero-Murillo, Xavier Serres-Creixams, Xavier Merino, Francisco Rodriguez-Frias, Josep Quer, Beatriz Minguez
Summary: This study investigated the value of detecting the most prevalent HCC mutations in plasma cfDNA as prognostic noninvasive biomarkers. The results showed that the total amount of cfDNA, number of mutated genes, and number of detectable mutations in cfDNA were significantly associated with mortality. Additionally, the number of mutated genes, detected mutations, and ratio between number of mutations and cfDNA amount were significantly related to recurrence. Detection of more than four mutations in cfDNA correlated with a higher risk of death. The study suggests that total cfDNA and detection of prevalent HCC mutations could have prognostic implications in early-stage HCC patients.
Article
Biotechnology & Applied Microbiology
Liyuan Han, Chang Chen, Xingyu Lu, Yanqun Song, Zhou Zhang, Chang Zeng, Rudyard Chiu, Li Li, Miao Xu, Chuan He, Wei Zhang, Shiwei Duan
Summary: The study investigates the diagnostic value of 5-hydroxymethylcytosines (5hmC) in circulating cell-free DNA (cfDNA) for diabetic retinopathy (DR), identifying a three-gene signature associated with DR which shows high accuracy in distinguishing patients from controls. The 5hmC model holds promise as a non-invasive approach for DR detection in patients with type 2 diabetes mellitus.
Article
Oncology
Begona O. Alen, Lara S. Estevez-Perez, Maria Teresa Hermida-Romero, Ana Reguera-Arias, Rosario Garcia-Campelo, Mercedes de la Torre-Bravos, Angel Concha
Summary: This study evaluated the use of liquid biopsy and the presence of EGFR mutations in non-small cell lung cancer patients. The results showed that liquid biopsy is a useful tool for monitoring disease progression and resistance, and detecting mutations in other genes is also important for understanding the development of the disease.
Article
Biochemistry & Molecular Biology
Paola Ulivi, Elisabetta Petracci, Matteo Canale, Ilaria Priano, Laura Capelli, Daniele Calistri, Elisa Chiadini, Paola Cravero, Alice Rossi, Angelo Delmonte, Lucio Crino, Giuseppe Bronte
Summary: The study found that liquid biopsy can be used as an alternative for EGFR detection in treatment-naive patients and those who have already undergone tumor biopsy. Most liquid biopsy analyses were done in NSCLC patients progressing during TKI therapy. The presence of EGFR mutation in cfDNA was associated with a worse prognosis, while in two patients, VAF of EGFR mutations in cfDNA correlated with tumor volume changes.
Review
Biochemistry & Molecular Biology
Jill Kolesar, Spencer Peh, Levin Thomas, Gayathri Baburaj, Nayonika Mukherjee, Raveena Kantamneni, Shirley Lewis, Ananth Pai, Karthik S. Udupa, Naveena Kumar An, Vivek M. Rangnekar, Mahadev Rao
Summary: Liquid biopsy and pharmacogenomic testing have potential applications in precision therapy for EGFR mutant and resistant lung cancers, allowing for precise treatment selection and monitoring of mutation development, as well as guiding dosing of EGFR TKIs.
Review
Oncology
Zijian Hu, Honghong Chen, Yanzhu Long, Ping Li, Yueqing Gu
Summary: Cell-free DNA (cfDNA) is an emerging biomarker with huge potential for clinical application, especially in liquid biopsy field. Understanding the biological knowledge of cfDNA is beneficial for catalyzing the transformation process.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Article
Oncology
Iben Lyskjaer, Neesha Kara, Solange De Noon, Christopher Davies, Ana Maia Rocha, Anna-Christina Strobl, Inga Usher, Craig Gerrand, Sandra J. Strauss, Daniel Schrimpf, Andreas von Deimling, Stephan Beck, Adrienne M. Flanagan
Summary: The study aimed to discover and validate methylation-based biomarkers to detect plasma circulating tumor DNA (ctDNA) in osteosarcoma (OS) patients and explore their utility as prognostic markers. The findings showed the potential of mutation-independent methylation-based ctDNA assays for OS and laid the foundation for further multi-institutional collaborative studies on plasma-derived biomarkers in the management of OS.
EUROPEAN JOURNAL OF CANCER
(2022)
Review
Oncology
Alfredo Berruti, Sergio Bracarda, Orazio Caffo, Enrico Cortesi, Rolando D'Angelillo, Marzia Del Re, Gaetano Facchini, Giovanni Pappagallo, Giuseppe Procopio, Roberto Sabbatini, Daniele Santini
Summary: Non-metastatic castration resistant prostate cancer (nmCRPC) refers to a clinical setting where patients treated with ADT have rising levels of PSA but no detectable metastases on conventional imaging. Recent phase III trials have shown that adding a next-generation androgen receptor targeted agent (ARTA) to ADT delays the development of metastases and improves overall survival in nmCRPC patients. Novel imaging techniques and potential tumor biomarkers are changing the diagnosis and management of nmCRPC.
CANCER TREATMENT REVIEWS
(2023)
Review
Oncology
Alberto Lapini, Orazio Caffo, Giario Natale Conti, Giovanni Pappagallo, Marzia Del Re, Rolando Maria D'Angelillo, Ettore Domenico Capoluongo, Francesca Castiglione, Matteo Brunelli, Roberto Iacovelli, Ugo De Giorgi, Sergio Bracarda
Summary: The recent approval of PARP inhibitors for the treatment of metastatic castration-resistant prostate cancer (mCRPC) patients with BRCA mutations has brought the possibility of targeted treatment in this disease. However, this raises questions regarding the management of prostate cancer, including the timing and method of detecting BRCA mutations, therapeutic implications, and family screening. The Italian Society for Uro-Oncology (SIUrO) organized a Consensus Conference to develop suggestions for clinicians managing prostate cancer patients, involving major Italian scientific societies.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2023)
Article
Immunology
Rosanna Ruggiero, Nunzia Balzano, Raffaella Di Napoli, Federica Fraenza, Ciro Pentella, Consiglia Riccardi, Maria Donniacuo, Marina Tesorone, Romano Danesi, Marzia Del Re, Francesco Rossi, Annalisa Capuano
Summary: Although immunotherapy has revolutionized cancer treatment, it can also lead to adverse events involving the peripheral nervous system. Through analyzing data from the European real-world context, we found that immune checkpoint inhibitors are associated with peripheral neuropathies, which can have serious consequences for patients' safety and quality of life.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Oncology
Antonio Passaro, Tony S. K. Mok, Ilaria Attili, Yi-Long Wu, Masahiro Tsuboi, Filippo de Marinis, Solange Peters
Summary: Adjuvant osimertinib has revolutionized the treatment algorithm for patients with resected EGFR mutation-positive NSCLC. Further evidence driven by clinical issues will be key for further optimization of the goals of adjuvant treatment in these patients.
Article
Medicine, General & Internal
Monica Casiraghi, Francesco Petrella, Claudia Bardoni, Shehab Mohamed, Giulia Sedda, Juliana Guarize, Antonio Passaro, Filippo De Marinis, Patrick Maisonneuve, Lorenzo Spaggiari
Summary: A retrospective study was conducted to evaluate the survival and recurrence rates of stage IB NSCLC patients who underwent radical resection. The results indicate that AT may be reserved for high-risk cases.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Stefania Crucitta, Martina Ruglioni, Giulia Lorenzini, Irene Bargagna, Giovanna Irene Luculli, Irene Albanese, Diana Bilancio, Francesca Patane, Andrea Fontana, Romano Danesi, Marzia Del Re
Summary: This study investigated the clinical benefit of CDK4/6 inhibitors (CDK4/6i) in ESR1 mutant HR+ metastatic breast cancer (mBC) patients as first- or second-line therapy. Analysis of ESR1 mutations in circulating free DNA showed that it was an independent predictive factor of clinical recurrence in the adjuvant setting. The results suggest that CDK4/6i can overcome ESR1-dependent resistance.
Article
Oncology
Alessandro Russo, Katherine A. Scilla, Ranee Mehra, Allison Gittens, Michael G. McCusker, Diego de Miguel-Perez, Jorge E. Gomez, Ariel Peleg, Marzia Del Re, Christian D. Rolfo
CLINICAL LUNG CANCER
(2023)
Article
Gastroenterology & Hepatology
Giorgio Guglielmi, Stefania Crucitta, Lorenzo Bertani, Martina Ruglioni, Giovanni Baiano Svizzero, Linda Ceccarelli, Marzia Del Re, Romano Danesi, Francesco Costa, Stefano Fogli
Summary: This study suggests that the expression levels of circulating let-7e and miR-126 may serve as biomarkers for predicting clinical remission in Crohn's disease patients treated with anti-TNF-& alpha; biologics.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Oncology
Federico Cucchiara, Stefania Crucitta, Iacopo Petrini, Diego de Miguel Perez, Martina Ruglioni, Eleonora Pardini, Christian Rolfo, Romano Danesi, Marzia Del Re
Summary: Gene-network analysis identified mutations in chromatin remodeling and cell-to-cell signaling pathways as predictive biomarkers for response to immune checkpoint inhibitors in non-small cell lung cancer. These predictive signatures performed best in patients receiving first-line immunotherapy and those receiving combined immune checkpoint inhibitors.
Review
Oncology
Gianluca Spitaleri, Pamela Trillo Aliaga, Ilaria Attili, Ester Del Signore, Carla Corvaja, Chiara Corti, Jacopo Uliano, Antonio Passaro, Filippo de Marinis
Summary: This review summarizes the historical milestones in the study of MET alterations in NSCLC and their treatment options. The discovery of MET exon 14 skipping mutations (METex14) has identified it as a target in NSCLC. New selective MET inhibitors (MET-Is) have shown long-lasting clinical benefits in patients with METex14 NSCLC and modest activity in patients with MET AMP NSCLC. Ongoing clinical trials are investigating new small molecule tyrosine kinase inhibitors, bispecific antibodies, or antibodies drug conjugates (ADCs). The last section of the review discusses future developments and challenges.
Review
Oncology
Ilaria Attili, Carla Corvaja, Gianluca Spitaleri, Ester Del Signore, Pamela Trillo Aliaga, Antonio Passaro, Filippo de Marinis
Summary: This manuscript focuses on improving the treatment of non-small cell lung cancer with actionable gene alterations, specifically through the use of Tyrosine Kinase Inhibitors (TKIs). Newer generations of TKIs have shown better results in controlling the disease and extending patient survival, particularly in the brain. However, there are limitations and challenges, such as the potential exclusion of older TKIs and the emergence of drug resistance. Understanding tumor biology and drug properties can aid in developing new treatment strategies for patients with this type of lung cancer.
Review
Oncology
Gianluca Spitaleri, Pamela Trillo Aliaga, Ilaria Attili, Ester Del Signore, Carla Corvaja, Chiara Corti, Edoardo Crimini, Antonio Passaro, Filippo de Marinis
Summary: ALK translocation accounts for about 3-7% of all NSCLCs. ALK+ NSCLC is characterized by adenocarcinoma histology, younger age, limited smoking history, and brain metastases. Chemotherapy and immunotherapy show limited efficacy in ALK+ disease. ALK inhibitors (ALK-Is) have proven to be more effective than platinum-based chemotherapy, with second/third generation ALK-Is showing better results in terms of progression-free survival and brain metastases management. However, acquired resistance to ALK-Is is common, and further research is needed to develop new drugs or combination therapies.
Article
Oncology
Diego de Miguel-Perez, Edward M. Pickering, Umberto Malapelle, William Grier, Francesco Pepe, Pasquale Pisapia, Gianluca Russo, Joseph A. Pinto, Alessandro Russo, Giancarlo Troncone, Melissa J. Culligan, Katherine A. Scilla, Ranee Mehra, Pranshu Mohindra, Oscar Arrieta, Andres F. Cardona, Marzia Del Re, Ashutosh Sachdeva, Fred R. Hirsch, Andrea Wolf, Joseph S. Friedberg, Christian Rolfo
Summary: In this study, genetic alterations in resectable pleural mesothelioma tissues and blood samples were analyzed, and it was found that high tissue tumor mutational burden, tissue median minor allele frequency, blood tumor mutational burden, and specific mutations were correlated with outcomes in patients with resected PM. These findings suggest that molecular profiling could help identify longer survivors in patients with resected PM.
EUROPEAN JOURNAL OF CANCER
(2024)
Review
Oncology
Guido Giordano, Gaia Griguolo, Matteo Landriscina, Icro Meattini, Francesco Carbone, Augusto Leone, Marzia Del Re, Stefano Fogli, Romano Danesi, Antonio Colamaria, Maria Vittoria Dieci
Summary: This article discusses the management strategies for HER2+ breast cancer brain metastases. Despite some therapeutic advances, there is still a need for more effective systemic treatment options. The article summarizes current and future locoregional and systemic strategies and proposes an evidence-based treatment algorithm.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2023)