Article
Oncology
Ying Zhang, Weiya Wang, Qianrong Hu, Zuoyu Liang, Ping Zhou, Yuan Tang, Lili Jiang
Summary: This study explores a special type of neuroendocrine tumor, the grey-zone tumor, which has atypical carcinoid morphology and elevated mitotic counts. By comparing tumor morphology and gene mutations, it was found that grey-zone tumors are more similar to large cell neuroendocrine carcinomas. The findings of this study may improve the diagnosis of these special cases in clinical practice to avoid misdiagnosis.
Article
Public, Environmental & Occupational Health
Quan Zhang, Wei Xu, Fei Peng, Si Lei, Yanjun Zhong, Jun Yi, Shangjie Wu
Summary: A case of aspiration pneumonia with radiological and clinical similarities to COVID-19 was reported. The study highlights the importance of careful examination of CT images, attention to clinical history, and judicious utilization of NGS for accurate diagnosis.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Biochemistry & Molecular Biology
Hye Lim Choi, Ha Rim Yang, Ha Gyeong Shin, Kyusang Hwang, Ji Woong Kim, Ji Hyun Lee, Taehoon Ryu, Yushin Jung, Sukmook Lee
Summary: Antibody phage display is a crucial technology for discovering and developing target-specific monoclonal antibodies. This study constructed a large human combinatorial single-chain variable fragment library with high diversity, which can be used for the rapid development of recombinant human monoclonal antibodies for therapeutic and diagnostic applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Kenji Amemiya, Yosuke Hirotsu, Yuki Nagakubo, Shunsuke Watanabe, Saki Amemiya, Hitoshi Mochizuki, Toshio Oyama, Tetsuo Kondo, Masao Omata
Summary: Evaluation of MMR status in tumors is crucial for determining the application of ICIs. We compared IHC and MSI-PCR testing and found a high concordance rate between the two methods. Discrepancies were mainly due to ambiguous MSI-PCR results and intratumoral heterogeneity. Our results suggest that IHC is a simple and reliable method for determining MMR alterations in critical cases for ICIs treatment.
Article
Pathology
Moonsik Kim, Jinhee Kim, An Na Seo, Ji Yun Jeong, Nora Jee-Young Park, Gun Oh Chong, Dae Gy Hong, Ji Young Park
Summary: This study provides a detailed analysis of the immunostaining pattern of oncogenic PTEN missense mutations and suggests that complementary testing using both immunostaining and next-generation sequencing is necessary to accurately evaluate the PTEN status in malignancy.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Biochemical Research Methods
Alba Gutierrez-Sacristan, Carlos De Niz, Cartik Kothari, Sek Won Kong, Kenneth D. Mandl, Paul Avillach
Summary: Precision medicine aims to provide the best diagnosis, treatment, and prognosis for each individual by tailoring therapeutic approaches to their genetic profile, lifestyle, and environmental exposures. However, to achieve this goal, researchers need access to large-scale clinical and genomic data repositories, which can be challenging to locate and obtain.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Oncology
Xuan Pei, Libing Xiang, Wei Chen, Wei Jiang, Lina Yin, Xuxia Shen, Xiaoyan Zhou, Huijuan Yang
Summary: Small cell neuroendocrine carcinoma of the cervix (SCNEC) is specifically associated with HPV 18 infection and characterized by a high genetic mutation rate, with mutations in genes related to the p53 pathway potentially affecting prognosis. Some patients harbor mutations in homogeneous recombination repair (HRR) genes, providing therapeutic targets. The study suggests that targeted therapies against certain mutated genes may have potential efficacy in SCNEC patients.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Medicine, General & Internal
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Perrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Cerkez Ergoren, Matteo Bertelli
Summary: Obesity is a chronic disease that poses health risks and leads to other chronic illnesses, with 19.8% of the adult population in Italy being obese. A study has found that using a next-generation sequencing (NGS) gene panel can help evaluate an individual's predisposition to obesity and their response to bariatric surgery, potentially predicting the surgical outcome.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
Kohei Nakamura, Eriko Aimono, Junna Oba, Hideyuki Hayashi, Shigeki Tanishima, Tetsu Hayashida, Tatsuyuki Chiyoda, Takeo Kosaka, Tomoyuki Hishida, Hirohumi Kawakubo, Minoru Kitago, Koji Okabayashi, Takeru Funakoshi, Hajime Okita, Sadakatsu Ikeda, Hiromasa Takaishi, Hiroshi Nishihara
Summary: Assessing the ERBB2 amplification status is vital for determining the best therapeutic strategy in breast and gastric cancer. Results show that NGS-estimated ERBB2 CN can be considered as a diagnostic test for anti-HER2 therapy after adequate clinical trials.
Article
Oncology
Tyler Shugg, Reynold C. Ly, Wilberforce Osei, Elizabeth J. Rowe, Caitlin A. Granfield, Ty C. Lynnes, Elizabeth B. Medeiros, Jennelle C. Hodge, Amy M. Breman, Bryan P. Schneider, S. Cenk Sahinalp, Ibrahim Numanagic, Benjamin A. Salisbury, Steven M. Bray, Ryan Ratcliff, Todd C. Skaar
Summary: This study assessed the accuracy of the Aldy computational method in extracting pharmacogenomics genotypes from whole genome sequencing (WGS) and whole exome sequencing (WES) data. The results showed that Aldy achieved over 99% accuracy in calling diplotypes for major pharmacogenes from both WGS and WES data, supporting its importance in clinical applications.
FRONTIERS IN ONCOLOGY
(2023)
Article
Microbiology
Ilayda Akacin, Seymanur Ersoy, Osman Doluca, Mine Gungormusler
Summary: This review provides a comprehensive overview of recent literature on the utilization of TGS and NGS technologies in microbial metagenomics research. It discusses the advantages and limitations of these technologies and presents real-time examples of novel applications in clinical microbiology and public health, food and agriculture, energy and environment, arts and space.
MICROBIOLOGICAL RESEARCH
(2022)
Article
Immunology
Denver T. Niles, Paula A. Revell, Daniel Ruderfer, Lucila Marquez, J. Chase McNeil, Debra L. Palazzi
Summary: Plasma metagenomic next-generation sequencing (mNGS) has the potential to detect multiple organisms with a single test. The study found that mNGS testing had the highest clinical impact in immunocompromised patients with well-defined deep-seated infections. Further research is needed to evaluate the full range of clinical scenarios for which mNGS testing is beneficial.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2022)
Article
Pathology
Ching-Yeuh Yanga, Yi-Che Yeh, Lei-Chi Wanga, Yen-Yu Lina, Shin-Ying Lina, Shu-Ying Wanga, Ping-Yuan Chua, Zih-Yu Liua, Yu-Chi Sua, Hsiang-Ling Ho, Teh-Ying Choua
Summary: This study aimed to investigate the value of large-scale next-generation sequencing (NGS) panels in distinguishing between separate primary lung cancers (SPLCs) and intrapulmonary metastases (IPMs). With NGS and a molecular classification algorithm, 97.6% of tumor pairs can be accurately classified as SPLCs or IPMs. The molecular classification was predictive of postoperative clinical outcomes in terms of overall survival and recurrence-free interval, providing accurate risk stratification.
Review
Pathology
Hanibal Bohnenberger, Philipp Stroebel
Summary: TNETs are rare neoplasms with histomorphology identical to neuroendocrine tumors elsewhere in the body, but distinct from thymomas and thymic carcinomas. Recent molecular findings have significantly changed our understanding of these tumors and could impact future histological classification systems.
Article
Ecology
Zi-Wen Yang, Yu Men, Jing Zhang, Zhi-Hui Liu, Jiu-Yang Luo, Yan-Hui Wang, Wen-Jun Li, Qiang Xie
Summary: The study found that air dried preservation method had poor effects on insect microbiome samples, while RNAlater was not suitable for longer field works. CTAB and ethanol were recommended as more effective and cost-efficient preservatives. Additionally, NGS sequencing of the V4 region of the 16S rRNA gene had lower resolution compared to TGS sequencing, potentially leading to misestimations of microbial community compositions.
Article
Endocrinology & Metabolism
Giovanni Centonze, Patrick Maisonneuve, Natalie Prinzi, Sara Pusceddu, Luca Albarello, Eleonora Pisa, Massimo Barberis, Alessandro Vanoli, Paola Spaggiari, Paola Bossi, Laura Cattaneo, Giovanna Sabella, Enrico Solcia, Stefano La Rosa, Federica Grillo, Giovanna Tagliabue, Aldo Scarpa, Mauro Papotti, Marco Volante, Alessandro Mangogna, Alessandro Del Gobbo, Stefano Ferrero, Luigi Rolli, Elisa Roca, Luisa Bercich, Mauro Benvenuti, Luca Messerini, Frediano Inzani, Giancarlo Pruneri, Adele Busico, Federica Perrone, Elena Tamborini, Alessio Pellegrinelli, Ketevani Kankava, Alfredo Berruti, Ugo Pastorino, Nicola Fazio, Fausto Sessa, Carlo Capella, Guido Rindi, Massimo Milione
Summary: This study analyzed a large series of neuroendocrine carcinomas (NECs) to validate previously identified prognostic factors and determine if additional parameters could be isolated. The most relevant predictors for prognosis were Ki-67 index, morphology, stage, and site. However, morphology was not a significant factor when Ki-67 was greater than or equal to 55%.
NEUROENDOCRINOLOGY
(2023)
Article
Oncology
Alvaro Leone, Lucia Anna Muscarella, Paolo Graziano, Andrea Tornese, Lucia Rosalba Grillo, Angela Di Lorenzo, Monica Bronzini, Stefania Scarpino, Angelo Sparaneo, Giulio Rossi
Summary: Updated international guidelines recommend NGS as the preferred procedure for NSCLC patients' evaluation for predictive biomarkers, but it is not universally available. Alternative molecular techniques are rapidly evolving, each with different characteristics and performance. The Idylla GeneFusion assay, a rapid and fully automated platform, shows promise as a stand-alone test or alternative option for ultra-rapid NSCLC patient profiling.
Review
Oncology
Carlo Putzu, Stefania Canova, Panagiotis Paliogiannis, Renato Lobrano, Luca Sala, Diego Luigi Cortinovis, Francesca Colonese
Summary: Immunotherapy has significantly improved the outcomes of non-small cell lung cancer (NSCLC) patients, with more than 15% achieving long-term survival. This review aims to discuss the optimal duration of immunotherapy in long survivors to balance treatment efficacy and potential side effects, costs, and disease relapse or progression.
Article
Biochemistry & Molecular Biology
Francesca Lunardi, Daniela Isabel Abbrescia, Luca Vedovelli, Federica Pezzuto, Francesco Fortarezza, Giovanni Maria Comacchio, Vincenza Guzzardo, Pia Ferrigno, Monica Loy, Chiara Giraudo, Anna Sara Fraia, Eleonora Faccioli, Fausto Braccioni, Emanuele Cozzi, Dario Gregori, Geert M. Verleden, Fiorella Calabrese, Francesco Paolo Schena, Federico Rea
Summary: Chronic rejection is the leading cause of reduced survival and quality of life in lung transplant patients. This study identified a distinct molecular signature in lung biopsies of patients with histological signs of chronic rejection, with LCN2 gene playing a central role. The findings suggest that LCN2 gene may be crucial in the pathophysiology of chronic rejection.
Article
Medicine, General & Internal
Lina Zuccatosta, Tommaso Bizzarro, Giulio Rossi, Graziana Gallo, Stefano Gasparini, Andrea Ambrosini-Spaltro
Summary: This study aimed to investigate the role of Claudin-4 and BAP1 in distinguishing between sarcomatoid carcinoma (SC) and sarcomatoid mesothelioma (SM). The results showed that Claudin-4 was specifically expressed in SC, while BAP1 loss was specifically found in SM. Although the specificity of Claudin-4 and BAP1 detection was high (100%), their sensitivity was relatively low.
Review
Biology
Sara Cherri, Laura Melocchi, Laura Gandolfi, Giulio Rossi, Alberto Zaniboni
Summary: In recent years, precision medicine has gained importance in medical oncology, including colorectal cancer, and has led to the discovery of new targeted treatments for previously untargetable mutations, such as KRAS G12C. This has stimulated scientific research on other potential targets of KRAS and combination treatments to overcome drug resistance. The prognostic role of the KRAS mutation has also become significant and can aid in therapeutic decision-making within a multidisciplinary team approach.
Article
Medicine, General & Internal
Laura Melocchi, Giulio Rossi, Mirca Valli, Maria Cecilia Mengoli, Michele Mondoni, Luigi Lazzari-Agli, Giacomo Santandrea, Fabio Davoli, Chiara Baldovini, Alberto Cavazza, Thomas V. Colby
Summary: Pulmonary minute meningothelial-like nodules (MMNs) are tiny proliferations of meningothelial cells found in surgical specimens, sharing similar characteristics with meningiomas. The identification of multiple bilateral MMNs may lead to diffuse pulmonary meningotheliomatosis (DPM), which can be difficult to differentiate from metastatic primary intracranial meningioma without clinic-radiologic integration. This study reports four cases fitting the criteria of DPM, with all cases showing immunohistochemical expression of epithelial membrane antigen (EMA), progesterone receptor, and CD56. Close correlation with clinic-radiologic data is crucial for the diagnosis of DPM.
Article
Chemistry, Medicinal
Diego Luigi Cortinovis, Valentina Perrone, Elisa Giacomini, Diego Sangiorgi, Margherita Andretta, Fausto Bartolini, Giuseppe Taurino, Marco Belfiore, Emilia Sicari, Luca Degli Esposti
Summary: This study aimed to estimate the epidemiology and economic burden of early-stage non-small-cell lung carcinoma (eNSCLC) in the clinical practice Italian setting. An observational analysis was performed using administrative databases and revealed that about half of eNSCLC patients stage II-IIIA experienced a recurrence, with total direct costs of recurrence patients being almost two-fold those of no-recurrence patients.
Review
Biochemistry & Molecular Biology
Nicoletta Cordani, Tommaso Bianchi, Luca Carlofrancesco Ammoni, Diego Luigi Cortinovis, Marina Elena Cazzaniga, Andrea Alberto Lissoni, Fabio Landoni, Stefania Canova
Summary: Epithelial ovarian cancer (EOC), specifically high-grade serous carcinoma (HGSOC), is a leading cause of high death rates among gynecological cancers. Cytoreductive surgery and platinum-based chemotherapy are the main treatments for this aggressive disease. Molecular analysis has identified that up to 50% of HGSOC cases have deficiencies in the homologous recombination repair (HRR) system, making them sensitive to poly ADP-ribose inhibitors (PARP-is). However, drug resistance remains a challenge, and research is focused on combining PARP-is with antiangiogenic agents and immune checkpoint inhibitors. New drugs targeting different pathways are also in development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Stefania Canova, Benedetta Trevisan, Maria Ida Abbate, Francesca Colonese, Luca Sala, Alice Baggi, Sofia Paola Bianchi, Anna D'Agostino, Diego Luigi Cortinovis
Summary: The recent advances in the molecular knowledge of small cell lung cancer (SCLC) and potential new treatment strategies targeting DNA damage pathway, epigenetics, angiogenesis, and oncogenic drivers were reviewed. Addition of immunotherapy to chemotherapy has shown significant improvements in clinical outcomes, but the prognosis remains poor. Genomic alterations have been identified to classify SCLC into different molecular subtypes.
CURRENT ONCOLOGY REPORTS
(2023)
Editorial Material
Oncology
Paolo Graziano, Giulio Rossi
Review
Oncology
Cesare Gridelli, Marcello Tiseo, Diego Luigi Cortinovis, Maria Rita Migliorino, Vito Barbieri, Paolo Bironzo, Alessandra Bearz, Ilaria Attili, Filippo de Marinis
Summary: ALK tyrosine kinase inhibitors have significantly improved the treatment of NSCLC patients with ALK rearrangements. In Italy, Alectinib and brigatinib are the preferred first-line treatments, with lorlatinib pending approval. Age and performance status have little impact on treatment choice, but treatment compliance and toxicity profile should be considered. The treatment selection should take into account the patient's comorbidities and polypharmacotherapy interactions.
Article
Oncology
Andrea Ambrosini-Spaltro, Claudia Rengucci, Laura Capelli, Elisa Chiadini, Daniele Calistri, Chiara Bennati, Paola Cravero, Francesco Limarzi, Sofia Nosseir, Riccardo Panzacchi, Mirca Valli, Paola Ulivi, Giulio Rossi
Summary: This study analyzed the clinicopathological features of lung carcinomas with BRAF mutations, finding that patients with V600E mutations had a better prognosis, while co-mutations did not affect prognosis.