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2. Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications.

Author

Faini, Angelo Corso, Arruga, Francesca, Pinon, Michele, Bracciamà, Valeria, Vallone, Francesco Edoardo, Mioli, Fiorenza, Sorbini, Monica, Migliorero, Martina, Gambella, Alessandro, Carota, Damiano, Giraudo, Isaac, Cassoni, Paola, Catalano, Silvia, Romagnoli, Renato, Amoroso, Antonio, Calvo, Pier Luigi, Vaisitti, Tiziana, and Deaglio, Silvia

Subjects
KREBS cycle, CHOLESTEROL metabolism, GENETICS, CELL migration, FATTY acids, NEOVASCULARIZATION
Abstract

Hepatocellular adenomas (HAs) are tumors that can develop under different conditions, including in patients harboring a germline mutation in HNF1A. However, little is known about the pathogenesis of such disease. This work aims to better define what mechanisms lie under the development of this condition. Six HAs were sampled from the liver of a 17-year-old male affected by diabetes and multiple hepatic adenomatosis harboring the heterozygous pathogenic germline variant c.815G>A, p.(Arg272His) in HNF1A, which has a dominant negative effect. All HAs were molecularly characterized. Four of them were shown to harbor a second somatic HNF1A variant and one had a mutation in the ARID1A gene, while no additional somatic changes were found in the remaining HA and normal parenchyma. A transcriptomic profile of the same HA samples was also performed. HNF1A biallelic mutations were associated with the up-regulation of several pathways including the tricarboxylic acid cycle, the metabolism of fatty acids, and mTOR signaling while angiogenesis, endothelial and vascular proliferation, cell migration/adhesion, and immune response were down-regulated. Contrariwise, in the tumor harboring the ARID1A variant, angiogenesis was up-modulated while fatty acid metabolism was down-modulated. Histological analyses confirmed the molecular data. Independently of the second mutation, energetic processes and cholesterol metabolism were up-modulated, while the immune response was down-modulated. This work provides a complete molecular signature of HNF1A-associated HAs, analyzing the association between specific HNF1A variants and the development of HA while identifying potential new therapeutic targets for non-surgical treatment. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

Author

Vaisitti, Tiziana, Sorbini, Monica, Callegari, Martina, Kalantari, Silvia, Bracciamà, Valeria, Arruga, Francesca, Vanzino, Silvia Bruna, Rendine, Sabina, Togliatto, Gabriele, Giachino, Daniela, Pelle, Alessandra, Cocchi, Enrico, Benvenuta, Chiara, Baldovino, Simone, Rollino, Cristiana, Fenoglio, Roberta, Sciascia, Savino, Tamagnone, Michela, Vitale, Corrado, Calabrese, Giovanni, Biancone, Luigi, Bussolino, Stefania, Savoldi, Silvana, Borzumati, Maurizio, Cantaluppi, Vincenzo, Chiappero, Fabio, Ungari, Silvana, Peruzzi, Licia, Roccatello, Dario, Amoroso, Antonio, and Deaglio, Silvia

Published
2021
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6. Technical Advances in Circulating Cell-Free DNA Detection and Analysis for Personalized Medicine in Patients' Care.

Author

Sorbini, Monica, Carradori, Tullia, Togliatto, Gabriele Maria, Vaisitti, Tiziana, and Deaglio, Silvia

Subjects
*DNA analysis, *CIRCULATING tumor DNA, *CELL-free DNA, *INDIVIDUALIZED medicine, *APOPTOSIS, *PATIENT care
Abstract

Circulating cell-free DNA (cfDNA) refers to small fragments of DNA molecules released after programmed cell death and necrosis in several body fluids such as blood, saliva, urine, and cerebrospinal fluid. The discovery of cfDNA has revolutionized the field of non-invasive diagnostics in the oncologic field, in prenatal testing, and in organ transplantation. Despite the potential of cfDNA and the solid results published in the recent literature, several challenges remain, represented by a low abundance, a need for highly sensitive assays, and analytical issues. In this review, the main technical advances in cfDNA analysis are presented and discussed, with a comprehensive examination of the current available methodologies applied in each field. Considering the potential advantages of cfDNA, this biomarker is increasing its consensus among clinicians, as it allows us to monitor patients' conditions in an easy and non-invasive way, offering a more personalized care. Nevertheless, cfDNA analysis is still considered a diagnostic marker to be further validated, and very few centers are implementing its analysis in routine diagnostics. As technical improvements are enhancing the performances of cfDNA analysis, its application will transversally improve patients' quality of life. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Routine Monitoring of Donor-Derived Cell-Free DNA to Avoid Surveillance Endomyocardial Biopsies in Pediatric Heart Transplant Recipients

Author

Sorbini, Monica, primary, Aidala, Enrico, additional, Carradori, Tullia, additional, Togliatto, Gabriele Maria, additional, Caorsi, Cristiana, additional, Mansouri, Morteza, additional, Burlo, Paola, additional, Vaisitti, Tiziana, additional, Amoroso, Antonio, additional, Deaglio, Silvia, additional, and Napoleone, Carlo Pace, additional

Published
2023
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8. Validation of a Simple, Rapid, and Cost-Effective Method for Acute Rejection Monitoring in Lung Transplant Recipients

Author

Sorbini, Monica, primary, Togliatto, Gabriele, additional, Mioli, Fiorenza, additional, Simonato, Erika, additional, Marro, Matteo, additional, Cappuccio, Margherita, additional, Arruga, Francesca, additional, Caorsi, Cristiana, additional, Mansouri, Morteza, additional, Magistroni, Paola, additional, Gambella, Alessandro, additional, Delsedime, Luisa, additional, Papotti, Mauro Giulio, additional, Solidoro, Paolo, additional, Albera, Carlo, additional, Boffini, Massimo, additional, Rinaldi, Mauro, additional, Amoroso, Antonio, additional, Vaisitti, Tiziana, additional, and Deaglio, Silvia, additional

Published
2022
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9. HLA-DRB1 mismatch-based identification of donor-derived cell free DNA (dd-cfDNA) as a marker of rejection in heart transplant recipients: A single-institution pilot study

Author

Sorbini, Monica, primary, Togliatto, Gabriele Maria, additional, Simonato, Erika, additional, Boffini, Massimo, additional, Cappuccio, Margherita, additional, Gambella, Alessandro, additional, Arruga, Francesca, additional, Mora, Nicola, additional, Marro, Matteo, additional, Caorsi, Cristiana, additional, Mansouri, Morteza, additional, Magistroni, Paola, additional, Delsedime, Luisa, additional, Papotti, Mauro Giulio, additional, Amoroso, Antonio, additional, Rinaldi, Mauro, additional, Vaisitti, Tiziana, additional, and Deaglio, Silvia, additional

Published
2021
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12. NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE

Author

Vaisitti, Tiziana, Sorbini, Monica, Callegari, Martina, Kalantari, Silvia, Bracciama, Valeria, Arruga, Francesca, Vanzino, Silvia Bruna, Pelle, Alessandra, Giachino, Daniela, Cocchi, Enrico, Simone Baldovino, Rollino, Cristiana, Fenoglio, Roberta, Tamagnone, Michela, Gherzi, Maurizio, Soragna, Giorgio, Vitale, Corrado, Berta, Valentina, Calabrese, Giovanni, Leonardi, Gianluca, Biancone, Luigi, Strampelli, Emanuela, Maroni, Serena, Santi, Sonia, Funaro, Loredana, Borzumati, Maurizio, Bertinetto, Patrizia, Viglino, Giusto, Gianoglio, Bruno, Peruzzi, Licia, Roccatello, Dario, Amoroso, Antonio, and Deaglio, Silvia

Published
2020

13. Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

Author

Vaisitti, Tiziana, primary, Sorbini, Monica, additional, Callegari, Martina, additional, Kalantari, Silvia, additional, Bracciamà, Valeria, additional, Arruga, Francesca, additional, Vanzino, Silvia Bruna, additional, Rendine, Sabina, additional, Togliatto, Gabriele, additional, Giachino, Daniela, additional, Pelle, Alessandra, additional, Cocchi, Enrico, additional, Benvenuta, Chiara, additional, Baldovino, Simone, additional, Rollino, Cristiana, additional, Fenoglio, Roberta, additional, Sciascia, Savino, additional, Tamagnone, Michela, additional, Vitale, Corrado, additional, Calabrese, Giovanni, additional, Biancone, Luigi, additional, Bussolino, Stefania, additional, Savoldi, Silvana, additional, Borzumati, Maurizio, additional, Cantaluppi, Vincenzo, additional, Chiappero, Fabio, additional, Ungari, Silvana, additional, Peruzzi, Licia, additional, Roccatello, Dario, additional, Amoroso, Antonio, additional, and Deaglio, Silvia, additional

Published
2020
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14. P0056USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE

Author

Vaisitti, Tiziana, primary, Sorbini, Monica, primary, Callegari, Martina, primary, Kalantari, Silvia, primary, Bracciamà, Valeria, primary, Arruga, Francesca, primary, Vanzino, Silvia Bruna, primary, Pelle, Alessandra, primary, Giachino, Daniela, primary, Cocchi, Enrico, primary, Baldovino, Simone, primary, Rollino, Cristiana, primary, Fenoglio, Roberta, primary, Peruzzi, Licia, primary, Roccatello, Dario, primary, Amoroso, Antonio, primary, and Deaglio, Silvia, primary

Published
2020
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15. P0051NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE

Author

Vaisitti, Tiziana, primary, Sorbini, Monica, primary, Callegari, Martina, primary, Kalantari, Silvia, primary, Bracciamà, Valeria, primary, Arruga, Francesca, primary, Vanzino, Silvia Bruna, primary, Pelle, Alessandra, primary, Giachino, Daniela, primary, Cocchi, Enrico, primary, Baldovino, Simone, primary, Rollino, Cristiana, primary, Fenoglio, Roberta, primary, Tamagnone, Michela, primary, Gherzi, Maurizio, primary, Soragna, Giorgio, primary, Vitale, Corrado, primary, Berta, Valentina, primary, Calabrese, Giovanni, primary, Leonardi, Gianluca, primary, Biancone, Luigi, primary, Strampelli, Emanuela, primary, Maroni, Serena, primary, Santi, Sonia, primary, Funaro, Loredana, primary, Borzumati, Maurizio, primary, Bertinetto, Patrizia, primary, Viglino, Giusto, primary, Gianoglio, Bruno, primary, Peruzzi, Licia, primary, Roccatello, Dario, primary, Amoroso, Antonio, primary, and Deaglio, Silvia, primary

Published
2020
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