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4. Genomic Characterization of Rare Primary Cardiac Sarcoma Entities

Author

Gozzellino, Livia, primary, Nannini, Margherita, additional, Pizzi, Carmine, additional, Leone, Ornella, additional, Corti, Barbara, additional, Indio, Valentina, additional, Baldovini, Chiara, additional, Paolisso, Pasquale, additional, Foà, Alberto, additional, Pacini, Davide, additional, Folesani, Gianluca, additional, Schipani, Angela, additional, Costa, Alice, additional, Pasquinelli, Gianandrea, additional, Pantaleo, Maria Abbondanza, additional, and Astolfi, Annalisa, additional

Published
2023
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5. Comprehensive characterization of SDH-deficient GIST using NGS data and iPSC models

Author

Schipani, Angela <1994> and Pantaleo, Maria Abbondanza

Subjects
MED/06 Oncologia medica
Abstract

Gastrointestinal stromal tumors (GIST) are the most common di tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal (ICCs) or their precursors. The vast majority of GISTs (75–85% of GIST) harbor KIT or PDGFRA mutations. A small percentage of GIST (about 10‐15%) do not harbor any of these driver mutations and have historically been called wild-type (WT). Among them, from 20% to 40% show loss of function of the succinate dehydrogenase complex (SDH), also defined as SDH‐deficient GIST. SDH-deficient GISTs display distinctive clinical and pathological features, and can be sporadic or associated with Carney triad or Carney-Stratakis syndrome. These tumors arise most frequently in the stomach with predilection to distal stomach and antrum, have a multi-nodular growth, display a histological epithelioid phenotype, and present frequent lympho-vascular invasion. Occurrence of lymph node metastases and indolent course are representative features of SDH-deficient GISTs. This subset of GIST is known for the immunohistochemical loss of succinate dehydrogenase subunit B (SDHB), which signals the loss of function of the entire SDH-complex. The overall aim of my PhD project consists of the comprehensive characterization of SDH deficient GIST. Throughout the project, clinical, molecular and cellular characterizations were performed using next-generation sequencing technologies (NGS), that has the potential to allow the identification of molecular patterns useful for the diagnosis and development of novel treatments. Moreover, while there are many different cell lines and preclinical models of KIT/PDGFRA mutant GIST, no reliable cell model of SDH-deficient GIST has currently been developed, which could be used for studies on tumor evolution and in vitro assessments of drug response. Therefore, another aim of this project was to develop a pre-clinical model of SDH deficient GIST using the novel technology of induced pluripotent stem cells (iPSC).

Published
2022

6. Comprehensive characterization of SDH-deficient GIST using NGS data and iPSC models

Author

Pantaleo, Maria Abbondanza, Schipani, Angela <1994>, Pantaleo, Maria Abbondanza, and Schipani, Angela <1994>

Abstract

Gastrointestinal stromal tumors (GIST) are the most common di tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal (ICCs) or their precursors. The vast majority of GISTs (75–85% of GIST) harbor KIT or PDGFRA mutations. A small percentage of GIST (about 10‐15%) do not harbor any of these driver mutations and have historically been called wild-type (WT). Among them, from 20% to 40% show loss of function of the succinate dehydrogenase complex (SDH), also defined as SDH‐deficient GIST. SDH-deficient GISTs display distinctive clinical and pathological features, and can be sporadic or associated with Carney triad or Carney-Stratakis syndrome. These tumors arise most frequently in the stomach with predilection to distal stomach and antrum, have a multi-nodular growth, display a histological epithelioid phenotype, and present frequent lympho-vascular invasion. Occurrence of lymph node metastases and indolent course are representative features of SDH-deficient GISTs. This subset of GIST is known for the immunohistochemical loss of succinate dehydrogenase subunit B (SDHB), which signals the loss of function of the entire SDH-complex. The overall aim of my PhD project consists of the comprehensive characterization of SDH deficient GIST. Throughout the project, clinical, molecular and cellular characterizations were performed using next-generation sequencing technologies (NGS), that has the potential to allow the identification of molecular patterns useful for the diagnosis and development of novel treatments. Moreover, while there are many different cell lines and preclinical models of KIT/PDGFRA mutant GIST, no reliable cell model of SDH-deficient GIST has currently been developed, which could be used for studies on tumor evolution and in vitro assessments of drug response. Therefore, another aim of this project was to develop a pre-clinical model of SDH deficient GIST using the novel technology of induced pluripotent stem cells (iPSC).

Published
2022

7. SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor

Author

Pantaleo, Maria A., primary, Urbini, Milena, additional, Schipani, Angela, additional, Nannini, Margherita, additional, Indio, Valentina, additional, De Leo, Antonio, additional, Vincenzi, Bruno, additional, Brunello, Antonella, additional, Grignani, Giovanni, additional, Casagrande, Mariaelena, additional, Fumagalli, Elena, additional, Conca, Elena, additional, Saponara, Maristella, additional, Gruppioni, Elisa, additional, Altimari, Annalisa, additional, De Biase, Dario, additional, Tallini, Giovanni, additional, Ravegnini, Gloria, additional, Turchetti, Daniela, additional, Seri, Marco, additional, Ardizzoni, Andrea, additional, Secchiero, Paola, additional, and Astolfi, Annalisa, additional

Published
2022
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8. Case Report: The Complete Remission of a Mixed Germ Cell Tumor With Somatic Type Malignancy of Sarcoma Type With a GCT-Oriented Therapy: Clinical Findings and Genomic Profiling

Author

Pantaleo, Maria A., primary, Mandruzzato, Marcella, additional, Indio, Valentina, additional, Urbini, Milena, additional, Nannini, Margherita, additional, Gatto, Lidia, additional, Schipani, Angela, additional, Fiorentino, Michelangelo, additional, Franceschini, Tania, additional, Ambrosini, Valentina, additional, Di Scioscio, Valerio, additional, Saponara, Maristella, additional, Ianni, Manuela, additional, Concetti, Sergio, additional, Altimari, Annalisa, additional, Ardizzoni, Andrea, additional, and Astolfi, Annalisa, additional

Published
2021
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9. Gene Expression Landscape of SDH-Deficient Gastrointestinal Stromal Tumors

Author

Indio, Valentina, primary, Schipani, Angela, additional, Nannini, Margherita, additional, Urbini, Milena, additional, Rizzo, Alessandro, additional, De Leo, Antonio, additional, Altimari, Annalisa, additional, Di Scioscio, Valerio, additional, Messelodi, Daria, additional, Tarantino, Giuseppe, additional, Astolfi, Annalisa, additional, and Pantaleo, Maria, additional

Published
2021
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10. Targeted therapy in SDH-deficient GIST

Author

Nannini, Margherita, primary, Rizzo, Alessandro, additional, Indio, Valentina, additional, Schipani, Angela, additional, Astolfi, Annalisa, additional, and Pantaleo, Maria Abbondanza, additional

Published
2021
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11. Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile

Author

Astolfi, Annalisa, primary, Nannini, Margherita, additional, Indio, Valentina, additional, Schipani, Angela, additional, Rizzo, Alessandro, additional, Perrone, Anna Myriam, additional, De Iaco, Pierandrea, additional, Pirini, Maria Giulia, additional, De Leo, Antonio, additional, Urbini, Milena, additional, Secchiero, Paola, additional, and Pantaleo, Maria Abbondanza, additional

Published
2020
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12. Identification of SDHA germline mutations in sporadic SDHA mutant gastrointestinal stromal tumors (GIST): The need of a genetic counselling.

Author

Nannini, Margherita, primary, Urbini, Milena, additional, Indio, Valentina, additional, Schipani, Angela, additional, Vincenzi, Bruno, additional, Silletta, Marianna, additional, Grignani, Giovanni, additional, Tolomeo, Francesco, additional, Rizzo, Alessandro, additional, Fumagalli, Elena, additional, Conca, Elena, additional, Saponara, Maristella, additional, Astolfi, Annalisa, additional, and Pantaleo, Maria A., additional

Published
2020
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13. Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST

Author

Astolfi, Annalisa, primary, Indio, Valentina, additional, Nannini, Margherita, additional, Saponara, Maristella, additional, Schipani, Angela, additional, De Leo, Antonio, additional, Altimari, Annalisa, additional, Vincenzi, Bruno, additional, Comandini, Danila, additional, Grignani, Giovanni, additional, Secchiero, Paola, additional, Urbini, Milena, additional, and Pantaleo, Maria Abbondanza, additional

Published
2020
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