Letter
Biochemistry & Molecular Biology
Javier Martin-Broto, Claudia Valverde, Nadia Hindi, Bruno Vincenzi, Javier Martinez-Trufero, Giovanni Grignani, Antoine Italiano, Javier Lavernia, Ana Vallejo, Paolo Dei Tos, Francois Le Loarer, Ricardo Gonzalez-Campora, Rafael Ramos, Diana Hernandez-Jover, Antonio Gutierrez, Cesar Serrano, Maria Monteagudo, Rocio Leton, Mercedes Robledo, David S. Moura, Marta Martin-Ruiz, Jose A. Lopez-Guerrero, Julia Cruz, Antonio Fernandez-Serra, Jean-Yves Blay, Elena Fumagalli, Virginia Martinez-Marin
Summary: Approximately 15% of adult GIST patients have tumors that are wild-type for KIT and PDGFRa genes (KP-wtGIST) and usually have SDH deficiencies. Regorafenib shows favorable activity as upfront therapy in KP-wtGIST, especially in the subset with SDH deficiencies.
Article
Oncology
Yuhong Chen, Junyong Chen, Liansheng Long, Leng Han, Xiaohui Mi, Yanfang Song, Huanqing Cheng, Yanrui Zhang, Liyang Cheng
Summary: This case study presents the treatment process of a patient with qGIST. Despite initially responding to imatinib treatment, the tumor recurred and metastasized. Switching to sunitinib treatment did not prevent tumor dissemination, and the patient died.
FRONTIERS IN ONCOLOGY
(2023)
Article
Oncology
J. H. von der Thusen, D. W. Dumoulin, A. P. W. M. Maat, J. Wolf, A. H. Sadeghi, J. G. J. Aerts, R. Cornelissen
Summary: This study reports a novel subtype of non-small cell lung cancer, characterized by a unique morphology and the presence of ETV6-NTRK3 translocation in a low-grade mucinous bronchial adenocarcinoma. The patient was a 49-year-old with a mass in the left lower lung lobe that was resected and analyzed using NGS and RNA sequencing.
Article
Genetics & Heredity
Wen Huang, Wei Yuan, Lei Ren, Chen Xu, Rongkui Luo, Yuhong Zhou, Weiqi Lu, Qing Hao, Mian Xu, Yingyong Hou
Summary: This study reports a rare case of quadruple wild-type GIST, in which the patient showed both ALK-CDC42BPB fusion and ALK overexpression.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Multidisciplinary Sciences
Tahsin M. Khan, Emily A. Verbus, Alexander J. Rossi, Jonathan M. Hernandez, Jeremy L. Davis, Brian A. Coakley, Andrew M. Blakely
Summary: Wild-type KIT and PDGFRA gastrointestinal stromal tumors are rare and have limited treatment options. This study analyzed data from a large national database to identify factors influencing overall survival, finding that tumors in the small intestine and with high mitotic count were associated with decreased OS. Surgery remains the primary treatment modality for wild-type GIST.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Xiaoping Yi, Gaofeng Zhou, Yan Fu, Jinchun Wu, Changyong Chen, Hongyan Zai, Qiongzhi He, Peipei Pang, Haiyan Zhou, Guanghui Gong, Tianxiang Lei, Fengbo Tan, Heli Liu, Bin Li, Bihong T. Chen
Summary: This study aimed to evaluate whether CT-based sarcopenia could differentiate between KIT/PDGFRA wild-type gastrointestinal stromal tumors (wt-GIST) and mutant-type GIST (mu-GIST), and to evaluate the genetic features of GIST. The results showed a significantly higher incidence and more severe sarcopenia in patients with wt-GIST compared to those with mu-GIST. Multivariate logistic regression analysis identified sarcopenia score and muscle fat index as independent predictors for higher risk of wt-GIST. The study supported the use of CT-based assessment of sarcopenia in preoperatively differentiating wt-GIST from mu-GIST.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Erika Fiorino, Alessandra Merlini, Lorenzo D'Ambrosio, Ilaria Cerviere, Enrico Berrino, Caterina Marchio, Lidia Giraudo, Marco Basirico, Annamaria Massa, Chiara Donini, Valeria Leuci, Ramona Rotolo, Federica Galvagno, Letizia Vitali, Alessia Proment, Soldano Ferrone, Alberto Pisacane, Ymera Pignochino, Massimo Aglietta, Giovanni Grignani, Giulia Mesiano, Dario Sangiolo
Summary: This study investigates the immunotherapy efficacy on imatinib and sunitinib-resistant wild-type gastrointestinal stromal tumors (wtGIST) using a patient-derived preclinical model. The results show that cytokine-induced killer lymphocytes (CIK) can kill resistant wtGIST cells, and interferons (IFN) have anti-tumor effects on certain resistant wtGIST cells. These findings support the exploration of CIK immunotherapy in clinical studies and the reevaluation of IFN within this challenging setting.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pathology
Satsuki Kishikawa, Takuo Hayashi, Junzo Shimizu, Bungo Fuwa, Akitaka Nonomura, Tsuyoshi Saito, Yasushi Yatabe, Takashi Yao
Summary: This case report describes a 64-year-old female patient with low-grade tracheal adenocarcinoma and the identification of ETV6::NTRK3 fusion. The adenocarcinoma exhibited complicated tubule-papillary or cribriform patterns, and immunohistochemistry showed positivity for MUC5AC and MUC4, as well as nuclear expression of the pan-Trk antibody.
Article
Pathology
Natalie Klubickova, Elaheh Mosaieby, Nikola Ptakova, Aude Trinquet, Marick Lae, Valerie Costes-Martineau, Alena Skalova
Summary: We present 2 cases of high-grade sinonasal adenocarcinoma with a unique morphological and immunohistochemical phenotype. Despite being histologically different from secretory carcinoma, both tumors harbor an ETV6::NTRK3 fusion. The tumors consisted of solid and dense cribriform nests with central comedo-like necroses, and peripheral areas with papillary, microcystic, and trabecular formations. The tumor cells showed high-grade features with enlarged nuclei, conspicuous nucleoli, and brisk mitotic activity. Immunohistochemical analysis revealed immunonegativity for mammaglobin but immunopositivity for p40/p63, S100, SOX10, GATA3, and cytokeratins 7, 18, and 19. These cases describe primary high-grade non-intestinal type adenocarcinomas of the nasal cavity with distinct morphology and immunoprofile, characterized by the ETV6::NTRK3 fusion.
Article
Oncology
Marta Andrzejewska, Jakub Czarny, Jolanta Skalska-Sadowska, Katarzyna Jonczyk-Potoczna, Pawel Kurzawa, Mateusz Wichtowski, Jacek Wachowiak, Katarzyna Derwich
Summary: This article describes the management of a 10-year-old female patient diagnosed with gastrointestinal stromal tumor (GIST) of the stomach. The patient underwent tumor resection, imatinib treatment, and gastric resection at relapse. The genetic mutation in the patient changed from KIT mutation to wild-type, which has not been reported in pediatric patients before. The importance of genetic profiling and non-standard diagnostics in predicting treatment efficacy is highlighted, as well as the need for global standards in the diagnosis and treatment of pediatric GIST.
JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2023)
Article
Plant Sciences
Xiaopeng Wang, Nina Aboughanem-Sabanadzovic, Sead Sabanadzovic, Maria Tomaso-Peterson, Tessie H. Wilkerson, Tom W. Allen
Summary: Quinone outside inhibitor (QoI) fungicides have been widely used to manage soybean diseases, but resistant isolates have been found. The study analyzed fitness parameters and found that resistant isolates had better colony growth but produced fewer conidia compared to wild-type isolates. The study suggests that the resistant isolates are stable and may have advantages in the population.
Article
Pathology
Newton A. C. S. Wong, Olivier T. Giger, Rogier ten Hoopen, Ruth T. Casey, Kirsty Russell, Claire Faulkner
Summary: The study aimed to identify a potential therapeutic target for qWT GISTs as there is no specific biomarker or genetic signal known for these tumors. Through NGS analysis, rare short kinase variants specific to qWT GISTs were found, indicating that the current definition of qWT GISTs may cover a heterogenous population.
JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Luigi Aloj, Olivier Giger, Iosif A. Mendichovszky, Ben G. Challis, Meytar Ronel, Ines Harper, Heok Cheow, Rogier ten Hoopen, Deborah Pitfield, Ferdia A. Gallagher, Bala Attili, Mary McLean, Robin L. Jones, Palma Dileo, Venkata Ramesh Bulusu, Eamonn R. Maher, Ruth T. Casey
Summary: [(68) Ga]Ga-DOTATATE PET/CT shows variable performance in wtGIST patients, with SSTR2 not being a diagnostic or therapeutic target in these cases. This imaging modality may have specific diagnostic utility in differentiating wtGIST from other primary tumors (such as paraganglioma) in patients with sporadic and hereditary forms of wtGIST.
Article
Virology
Ying-ju Xia, Lu Xu, Jun-jie Zhao, Yuan-xi Li, Rui-zhi Wu, Xiang-peng Song, Qi-zu Zhao, Ye-bing Liu, Qin Wang, Qian-yi Zhang
Summary: A quadruple PCR-based gene microarray assay was developed to simultaneously detect and differentiate wild-type and vaccine strains of CSFV, ASFV, and APPV with high specificity and sensitivity. It provides a practical and reliable method for rapid detection and accurate diagnosis of these three viral diseases in the Chinese pig industry.
Review
Pathology
Francesca Gianno, Isabella Giovannoni, Barbara Cafferata, Francesca Diomedi-Camassei, Simone Minasi, Sabina Barresi, Francesca Romana Buttarelli, Viola Alesi, Antonello Cardoni, Manila Antonelli, Chiara Puggioni, Giovanna Stefania Colafati, Andrea Carai, Maria Vinci, Angela Mastronuzzi, Evelina Miele, Rita Alaggio, Felice Giangaspero, Sabrina Rossi
Summary: This article focuses on the unique pathobiology of paediatric-type diffuse high-grade gliomas, which are recognized for the first time in the fifth CNS WHO Classification. It discusses the diagnostic criteria and differential diagnosis for each tumour type within this family, with a specific emphasis on the challenges encountered in daily practice, particularly in diagnosing diffuse paediatric-type high-grade glioma H3-wildtype and IDH-wildtype. The advantages and limitations of molecular tests for defining entities within this tumour family are evaluated in different diagnostic contexts.
Letter
Pathology
Benjamin Champion, Siaw Ming Chai, Mayank Bhandari, Dilini Gunawardena
Article
Automation & Control Systems
Ali Ahmadi Dastjerdi, Alessandro Astolfi, Niranjan Saikumar, Nima Karbasizadeh, Duarte Valerio, S. Hassan HosseinNia
Summary: This article presents a closed-loop frequency analysis tool for reset control systems. It provides sufficient conditions for the existence of steady-state response and shows that the steady-state response for periodic inputs is periodic with the same period as the input. The framework presented in this article allows for the computation of steady-state response and defines a notion of closed-loop frequency response, including high order harmonics.
IEEE TRANSACTIONS ON AUTOMATIC CONTROL
(2023)
Article
Medicine, General & Internal
Livia Gozzellino, Margherita Nannini, Carmine Pizzi, Ornella Leone, Barbara Corti, Valentina Indio, Chiara Baldovini, Pasquale Paolisso, Alberto Foa, Davide Pacini, Gianluca Folesani, Angela Schipani, Alice Costa, Gianandrea Pasquinelli, Maria Abbondanza Pantaleo, Annalisa Astolfi
Summary: Primary cardiac sarcomas are rare malignant tumors with poor prognosis. This study aimed to investigate the gene mutations and expression profiles of two types of cardiac sarcomas, osteosarcoma and leiomyosarcoma, using whole-transcriptome sequencing. The results revealed specific genetic alterations and differential gene expression in these two types of sarcomas compared to other cardiac histotypes, which could be associated with tumorigenesis mechanisms. These findings provide insights for further research on targeted therapies and improving the prognosis of patients with primary cardiac sarcomas.
Article
Biochemistry & Molecular Biology
Michele Fiore, Alberto Taddia, Valentina Indio, Salvatore Nicola Bertuccio, Daria Messelodi, Salvatore Serravalle, Jessica Bandini, Filippo Spreafico, Daniela Perotti, Paola Collini, Andrea Di Cataldo, Gianandrea Pasquinelli, Francesca Chiarini, Maura Fois, Fraia Melchionda, Andrea Pession, Annalisa Astolfi
Summary: Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor with worse prognosis than Wilms' tumor. This study aims to investigate the molecular differences between metastatic and localized BCOR-ITD-positive CCSK at diagnosis. The findings suggest that metastatic CCSKs have an overexpression of genes related to the MAPK signaling pathway, and FGF3 may play a role in the acquisition of a more aggressive phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Carmen Ciavarella, Ilenia Motta, Francesco Vasuri, Teresa Palumbo, Anthony Paul Lisi, Alice Costa, Annalisa Astolfi, Sabrina Valente, Piera Versura, Eugenio F. Fornasiero, Raffaella Mauro, Mauro Gargiulo, Gianandrea Pasquinelli
Summary: The failure of arteriovenous fistulas due to intimal hyperplasia is a serious problem for patients undergoing hemodialysis. This study investigated the role of the PPAR-gamma in regulating intimal hyperplasia and found that the PPAR-gamma agonist pioglitazone had a negative effect on cell proliferation and migration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Sara Mongiorgi, Alessia De Stefano, Stefano Ratti, Valentina Indio, Annalisa Astolfi, Irene Casalin, Andrea Pellagatti, Stefania Paolini, Sarah Parisi, Michele Cavo, Andrea Pession, James A. McCubrey, Pann-Ghill Suh, Lucia Manzoli, Jacqueline Boultwood, Carlo Finelli, Lucio Cocco, Matilde Y. Follo
Summary: This study found that high levels of miR-192-5p are associated with higher overall survival and leukemia-free survival in myelodysplastic syndromes responding to azacitidine and lenalidomide. Moreover, miR-192-5p specifically targets and inhibits BCL2, possibly regulating proliferation and apoptosis and leading to the identification of new therapeutic targets.
CLINICAL EPIGENETICS
(2023)
Review
Genetics & Heredity
Angela Schipani, Margherita Nannini, Annalisa Astolfi, Maria A. Pantaleo
Summary: Loss of function of succinate dehydrogenase complex is a characteristic of 20-40% of KIT/PDGFRA-negative GIST. Half of SDH-deficient GIST patients lack SDHx mutations and are caused by hypermethylation of SDHC promoter. The remaining 50% have mutations in SDH subunits, with SDHA mutations being the most common.
Article
Health Care Sciences & Services
Martina Ruscelli, Thais Maloberti, Angelo Gianluca Corradini, Francesca Rosini, Giulia Querzoli, Marco Grillini, Annalisa Altimari, Elisa Gruppioni, Viviana Sanza, Alessia Costantino, Riccardo Ciudino, Matteo Errani, Alessia Papapietro, Sara Coluccelli, Daniela Turchetti, Martina Ferioli, Susanna Giunchi, Giulia Dondi, Marco Tesei, Gloria Ravegnini, Francesca Abbati, Daniela Rubino, Claudio Zamagni, Emanuela D'Angelo, Pierandrea De Iaco, Donatella Santini, Claudio Ceccarelli, Anna Myriam Perrone, Giovanni Tallini, Dario de Biase, Antonio De Leo
Summary: This study aims to evaluate the impact of integrated molecular and pathologic risk stratification in the clinical practice of endometrial carcinoma (EC). It found that molecular classes and risk groups were correlated with disease-free survival. The study supports the prognostic importance of EC molecular classification and the essential role of histopathologic assessment in patients' management.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Oncology
Camelia Alexandra Coada, Miriam Santoro, Vladislav Zybin, Marco Di Stanislao, Giulia Paolani, Cecilia Modolon, Stella Di Costanzo, Lucia Genovesi, Marco Tesei, Antonio De Leo, Gloria Ravegnini, Dario De Biase, Alessio Giuseppe Morganti, Luigi Lovato, Pierandrea De Iaco, Lidia Strigari, Anna Myriam Perrone
Summary: This study investigated the potential of radiomic features extracted from pre-surgical CT scans to predict disease-free survival (DFS) in endometrial cancer (EC) patients. Machine learning models achieved high sensitivities and specificities in both training and test sets, showing promise for predicting EC recurrence.
Review
Biochemistry & Molecular Biology
Alice Costa, Livia Gozzellino, Margherita Nannini, Annalisa Astolfi, Maria Abbondanza Pantaleo, Gianandrea Pasquinelli
Summary: Visceral sarcomas are a rare subtype of soft tissue sarcomas, and understanding their development mechanisms and developing personalized therapies are urgent clinical needs. However, the complex genomic profiles and lack of reliable preclinical models present challenges.
Review
Biochemistry & Molecular Biology
Milena Urbini, Sara Bleve, Giuseppe Schepisi, Cecilia Menna, Giorgia Gurioli, Caterina Gianni, Ugo De Giorgi
Summary: Cisplatin-based chemotherapy combinations have greatly improved the outcome of metastatic testicular germ cell tumor patients. However, predicting the prognosis of patients who relapse after first-line therapy remains complex. Molecular selection of patients and validated biomarkers are needed to improve risk stratification and identify novel therapeutic approaches.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
M. Nannini, A. Repaci, M. C. Nigro, A. Colapinto, V. Vicennati, T. Maloberti, E. Gruppioni, A. Altimari, E. Solaroli, E. Lodi Rizzini, F. Monari, A. De Leo, S. Damiani, U. Pagotto, M. A. Pantaleo, D. de Biase, G. Talini
Summary: This study retrospectively collected data from a single center in Italy on molecular profiling of patients with advanced differentiated thyroid cancer (DTC) from 2008 to 2022. The results showed a significant correlation between genetic alterations and the development of radioactive iodide refractory (RAI-R) disease. Genetic testing can help identify more aggressive tumors and tumors with actionable gene fusions, guiding clinical decision-making and treatment selection.
