MLH1 gene promoter methylation status partially overlaps with CpG methylator phenotype (CIMP) in colorectal adenocarcinoma

Authors: Ceccon, Carlotta ^{a, c, 1}, Borga, Chiara ^{b, 1}, Angerilli, Valentina ^{a, c}, Bergamo, Francesca ^d, Munari, Giada ^b, Sabbadin, Marianna ^{a, c}, Gasparello, Jessica ^a, Schiavi, Francesca ^d, Zovato, Stefania ^d, Scarpa, Marco ^e, Urso, Emanuele Damiano Luca ^e, Dei Tos, Angelo Paolo ^{a, b}, Luchini, Claudio ^f, Grillo, Federica ^{g, h}, Lonardi, Sara ^{d, 2}, Parente, Paola ^{i, 2}, Fassan, Matteo ^{a, c, ⁎, 2}

Source: In Pathology - Research and Practice February 2025 266

Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk

Authors: Negro, Silvia, Bao, Quoc Riccardo, Scarpa, Marco, Scognamiglio, Federico, Pucciarelli, Salvatore, Remo, Andrea, Agostini, Marco, D'Angelo, Edoardo, Mammi, Isabella, Schiavi, Francesca, Rossi, Silvia, Zingone, Fabiana, Ferrara, Francesco, Fantin, Alberto, Cristofori, Chiara, Guido, Ennio, Rizzotto, Erik Rosa, Intini, Rossana, Bergamo, Francesca, Fassan, Matteo, Salviati, Leonardo, Urso, Emanuele D.L.

Source: In Digestive and Liver Disease June 2024 56(6):1087-1094

Improving Outcomes in Carotid Body Tumors Treatment: The Impact of a Multidisciplinary Team Approach

Authors: Menegolo, Mirko, Xodo, Andrea, Bozza, Riccardo, Piazza, Michele, Pirri, Carmelo, Caroccia, Brasilina, Schiavi, Francesca, Opocher, Giuseppe, Antonello, Michele, Grego, Franco

Source: In Annals of Vascular Surgery August 2021 75:315-323

Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

Authors: Yukina, Marina, Cohen, Debbie L, Waguespack, Steven G, Pereira, Maria Adelaide Albergaria, He, Xin, Bandgar, Tushar, Donatini, Gianluca, Qi, Xiao-Ping, Cohn, Aviva, Roslyakova, Anna, Letizia, Claudio, Fishbein, Lauren, Kaur, Ravinder Jeet, Iniguez-Ariza, Nicole, Murad, Mohammad H, Gruber, Lucinda, Wachtel, Heather, Cherenko, Sergiy, Jimenez, Camilo, Else, Tobias, Ramteke-Jadhav, Swati, Fang, Xu-dong, Vaidya, Anand, Petramala, Luigi, Beltsevich, Dmitry, Walz, Martin K, Corssmit, Eleonora P.M., Wohllk, Nelson, Tufton, Nicola, Links, Thera P, Ferrara, Alfonso Massimiliano, Tsoy, Uliana, Donegan, Diane, Peczkowska, Mariola, Timmers, Henri J, Morelli, Valentina, Ebbehoj, Andreas, Kirschner, Lawrence S, Kunavisarut, Tada, Larsson, Catharina, Kudlai, Inna, Hasse-Lazar, Kornelia, Barczyński, Marcin, Deutschbein, Timo, Langton, Katharina, Rasmussen, Åse Krogh, Dvorakova, Sarka, Miller, Julie A, Liu, Longfei, Bennett, Bonita, Huang, Ya-Sheng, Yu, Zhi-xian, Kumar Jaiswal, Sanjeet, Shah, Nalini, Diaz, Rene E, Dullaart, Robin P.F, Akker, Scott A, Drake, William M, Boaretto, Francesca, Zovato, Stefania, Barbon, Giovanni, Taschin, Elisa, Schiavi, Francesca, Grineva, Elena, Rappaport, Maximilien, Skierczynski, Paul, Fassnacht, Martin, Calissendorff, Jan, Juhlin, C Christofer, Vlĕek, Petr, Li, Minghao, Jonasch, Eric, Prokop, Larry, Jovanovic, Milan, Lechan, Ronald M, Erenler, Feyza, Garla, Vishnu, Bobryk, Maryna, Kovalenko, Andrey Y, Hodson, Emma, Jenner, Bernadette, Simpson, Helen L, Casey, Ruth T, Gimm, Oliver, Ngeow Yuen Yie, Joanne, Shafigullina, Zulfiya, Martins Bugalho, Maria João, Rizzati, Silvia, Fraenkel, Merav, Sherlock, Mark, Sarma, Dipti, Kaimal Saikia, Uma, Riester, Anna, Quinkler, Marcus, Zschiedrich, Stefan, Seufert, Jochen, Bausch, Birke, Zavrashvili, Nino, Søndergaard, Esben, Mathiesen, Jes Sloth, Robaczyk, Maciej G, Poulsen, Per Løgstrup, Vasilkova, Volha, Costa-Barbosa, Flavia A, Kater, Claudio E, Yildirim Simsir, Ilgin, Ugurlu, M. Umit, Soyaltin, Utku E, Makay, Özer, Ivanov, Nikita V, Opocher, Giuseppe, Egorov, Viacheslav I, Petrov, Roman, Khudiakova, Natalia V, Bancos, Irina ^*, Atkinson, Elizabeth, Eng, Charis, Young, William F, Jr, Neumann, Hartmut P H

Source: In The Lancet Diabetes & Endocrinology January 2021 9(1):13-21

Immune and gene-expression profiling in estrogen receptor low and negative early breast cancer.

Authors: Massa, Davide, Vernieri, Claudio, Nicolè, Lorenzo, Criscitiello, Carmen, Boissière-Michot, Florence, Guiu, Séverine, Bobrie, Angélique, Griguolo, Gaia, Miglietta, Federica, Vingiani, Andrea, Lobefaro, Riccardo, Salimbeni, Beatrice Taurelli, Pinato, Claudia, Schiavi, Francesca, Brich, Silvia, Pescia, Carlo, Fusco, Nicola, Pruneri, Giancarlo, Fassan, Matteo, Curigliano, Giuseppe

Source: JNCI: Journal of the National Cancer Institute; Dec2024, Vol. 116 Issue 12, p1914-1927, 14p

Subject Terms: HER2 gene, ESTROGEN receptors, GENE expression profiling, TUMOR-infiltrating immune cells, BREAST cancer

Comprehensive genomic and transcriptomic characterization of high-grade gastro-entero-pancreatic neoplasms.

Authors: Angerilli, Valentina, Sabella, Giovanna, Simbolo, Michele, Lagano, Vincenzo, Centonze, Giovanni, Gentili, Marco, Mangogna, Alessandro, Coppa, Jorgelina, Munari, Giada, Businello, Gianluca, Borga, Chiara, Schiavi, Francesca, Pusceddu, Sara, Leporati, Rita, Oldani, Simone, Fassan, Matteo, Milione, Massimo

Source: British Journal of Cancer; Jul2024, Vol. 131 Issue 1, p159-170, 12p

Gain-of-function mutations in DNMT3A in patients with paraganglioma

Authors: Remacha, Laura, Currás-Freixes, Maria, Torres-Ruiz, Raúl, Schiavi, Francesca, Torres-Pérez, Rafael, Calsina, Bruna, Letón, Rocío, Comino-Méndez, Iñaki, Roldán-Romero, Juan M, Montero-Conde, Cristina, Santos, María, Pérez, Lucía Inglada, Pita, Guillermo, Alonso, María R., Honrado, Emiliano, Pedrinaci, Susana, Crespo-Facorro, Benedicto, Percesepe, Antonio, Falcioni, Maurizio, Rodríguez-Perales, Sandra, Korpershoek, Esther, Ramón-Maiques, Santiago, Opocher, Giuseppe, Rodríguez-Antona, Cristina, Robledo, Mercedes, Cascón, Alberto ^*

Source: In Genetics in Medicine December 2018 20(12):1644-1651

Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations

Authors: Maffeis, Valeria, Cappellesso, Rocco, Nicolè, Lorenzo, Guzzardo, Vincenza, Menin, Chiara, Elefanti, Lisa, Schiavi, Francesca, Guido, Maria, Fassina, Ambrogio

Source: Endocrine pathology. 30(4):276-284

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129441905.0x000001&indx=1&recIds=ETOCvdc_100129441905.0x000001

Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib

Authors: Verginelli, Fabio, Perconti, Silvia, Vespa, Simone, Schiavi, Francesca, Prasad, Sampath Chandra, Lanuti, Paola, Cama, Alessandro, Tramontana, Lorenzo, Esposito, Diana Liberata, Guarnieri, Simone, Sheu, Artenca, Pantalone, Mattia Russel, Florio, Rosalba, Morgano, Annalisa, Rossi, Cosmo, Bologna, Giuseppina, Marchisio, Marco, D'Argenio, Andrea, Taschin, Elisa, Visone, Rosa, Opocher, Giuseppe, Veronese, Angelo, Paties, Carlo T., Rajasekhar, Vinagolu K., Söderberg-Nauclér, Cecilia, Sanna, Mario, Lotti, Lavinia Vittoria, Mariani-Costantini, Renato

Source: Acta neuropathologica. 135(5):779-798

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141526165.0x000001&indx=1&recIds=ETOCvdc_100141526165.0x000001

Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma

Authors: Ferrara, Alfonso M., Lombardi, Giuseppe, Pambuku, Ardi, Meringolo, Domenico, Bertorelle, Roberta, Nardin, Margherita, Schiavi, Francesca, Iacobone, Maurizio, Opocher, Giuseppe, Zagonel, Vittorina, Zovato, Stefania

Source: Anti-cancer drugs. 29(1):102-105

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100057535936.0x000001&indx=1&recIds=ETOCvdc_100057535936.0x000001

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Authors: Scaini, Maria Chiara, Catoni, Cristina, Poggiana, Cristina, Pigozzo, Jacopo, Piccin, Luisa, Leone, Kevin, Scarabello, Ilaria, Facchinetti, Antonella, Menin, Chiara, Elefanti, Lisa, Pellegrini, Stefania, Aleotti, Valentina, Vidotto, Riccardo, Schiavi, Francesca, Fabozzi, Alessio, Chiarion-Sileni, Vanna, Rosato, Antonio

Source: NPJ Precision Oncology; 3/28/2024, Vol. 8 Issue 1, p1-16, 16p

Subject Terms: NUCLEOTIDE sequencing, CIRCULATING tumor DNA, SINGLE nucleotide polymorphisms, MELANOMA, BIOPSY, DISEASE management

Company/Entity: UNITED States. Food & Drug Administration

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

Authors: Castinetti, Frederic, Qi, Xiao-Ping, Walz, Martin K, Maia, Ana Luiza, Sansó, Gabriela, Peczkowska, Mariola, Hasse-Lazar, Kornelia, Links, Thera P, Dvorakova, Sarka, Toledo, Rodrigo A, Mian, Caterina, Bugalho, Maria Joao, Wohllk, Nelson, Kollyukh, Oleg, Canu, Letizia, Loli, Paola, Bergmann, Simona R, Costa, Josefina Biarnes, Makay, Ozer, Patocs, Attila, Pfeifer, Marija, Shah, Nalini S, Cuny, Thomas, Brauckhoff, Michael, Bausch, Birke, von Dobschuetz, Ernst, Letizia, Claudio, Barczynski, Marcin, Alevizaki, Maria K, Czetwertynska, Malgorzata, Ugurlu, M Umit, Valk, Gerlof, Plukker, John T M, Sartorato, Paola, Siqueira, Debora R, Barontini, Marta, Szperl, Malgorzata, Jarzab, Barbara, Verbeek, Hans H G, Zelinka, Tomas, Vlcek, Petr, Toledo, Sergio P A, Coutinho, Flavia L, Mannelli, Massimo, Recasens, Monica, Demarquet, Lea, Petramala, Luigi, Yaremchuk, Svetlana, Zabolotnyi, Dmitry, Schiavi, Francesca, Opocher, Giuseppe, Racz, Karoly, Januszewicz, Andrzej, Weryha, Georges, Henry, Jean-Francois, Brue, Thierry, Conte-Devolx, Bernard, Eng, Charis, Neumann, Hartmut P H

Source: In The Lancet Oncology May 2014 15(6):648-655

Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic Conditions

Authors: Maliszewska, Agnieszka, Leandro-Garcia, Luis J., Castelblanco, Esmeralda, Macià, Anna, de Cubas, Aguirre, Goméz-López, Gonzalo, Inglada-Pérez, Lucía, Álvarez-Escolá, Cristina, De la Vega, Leticia, Letón, Rocío, Gómez-Graña, Álvaro, Landa, Iñigo, Cascón, Alberto, Rodríguez-Antona, Cristina, Borrego, Salud, Zane, Mariangela, Schiavi, Francesca, Merante-Boschin, Isabella, Pelizzo, Maria R., Pisano, David G., Opocher, Giuseppe, Matias-Guiu, Xavier, Encinas, Mario, Robledo, Mercedes

Source: In The American Journal of Pathology February 2013 182(2):350-362

A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient.

Authors: Bandini, Erika, Zampiga, Valentina, Cangini, Ilaria, Ravegnani, Mila, Arcangeli, Valentina, Rossi, Tania, Mammi, Isabella, Schiavi, Francesca, Zovato, Stefania, Falcini, Fabio, Calistri, Daniele, Danesi, Rita

Source: International Journal of Molecular Sciences; Aug2023, Vol. 24 Issue 15, p12418, 7p

Subject Terms: NUCLEOTIDE sequencing, HEREDITARY cancer syndromes, RENAL cell carcinoma, GENETIC variation, FAMILY history (Medicine)

Functional Consequences of Succinate Dehydrogenase Mutations

Authors: Opocher, Giuseppe ^*, Schiavi, Francesca

Source: In Endocrine Practice July 2011 17 Supplement 3:64-71

Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?

Authors: Iacobone, Maurizio, Schiavi, Francesca, Bottussi, Marzia, Taschin, Elisa, Bobisse, Sara, Fassina, Ambrogio, Opocher, Giuseppe, Favia, Gennaro

Source: In Surgery 2011 150(6):1194-1201

Genetics of pheochromocytomas and paragangliomas

Authors: Opocher, Giuseppe, Schiavi, Francesca

Source: In Best Practice & Research Clinical Endocrinology & Metabolism December 2010 24(6):943-956

Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients.

Authors: De Fabritiis, Simone, Valentinuzzi, Silvia, Piras, Gianluca, Cicalini, Ilaria, Pieragostino, Damiana, Pagotto, Sara, Perconti, Silvia, Zucchelli, Mirco, Schena, Alberto, Taschin, Elisa, Berteşteanu, Gloria Simona, Esposito, Diana Liberata, Stigliano, Antonio, De Laurenzi, Vincenzo, Schiavi, Francesca, Sanna, Mario, Del Boccio, Piero, Verginelli, Fabio, Mariani-Costantini, Renato

Source: Oncogenesis; 2/25/2023, Vol. 12 Issue 1, p1-10, 10p

1610 Immune and Inflammatory Marker Profiling in High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms: Insights into the Tumor Microenvironment.

Authors: Milione, Massimo, Angerilli, Valentina, Sabella, Giovanna, Centonze, Giovanni, Simbolo, Michele, Bodini, Beatrice, Mangogna, Alessandro, Munari, Giada, Businello, Gianluca, Schiavi, Francesca, Leporati, Rita, Oldani, Simone, Fassan, Matteo, Borga, Chiara

Source: Laboratory Investigation (00236837); 2025 Supplement, Vol. 105 Issue 3, pN.PAG-N.PAG, 1p

Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.

Authors: Bayley, Jean-Pierre, Rebel, Heggert G., Scheurwater, Kimberly, Duesman, Dominique, Zhang, Juan, Schiavi, Francesca, Korpershoek, Esther, Jansen, Jeroen C., Schepers, Abbey, Devilee, Peter

Source: PLoS ONE; 9/30/2022, Vol. 17 Issue 9, p1-24, 24p

Subject Terms: CHROMAFFIN cells, SERTOLI cells, HUMAN cell culture, SUCCINATE dehydrogenase, TYROSINE hydroxylase, CELL culture