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1. Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis

Author

Pinyol, Roser, Torrecilla, Sara, Wang, Huan, Montironi, Carla, Piqué-Gili, Marta, Torres-Martin, Miguel, Wei-Qiang, Leow, Willoughby, Catherine E., Ramadori, Pierluigi, Andreu-Oller, Carmen, Taik, Patricia, Lee, Youngmin A., Moeini, Agrin, Peix, Judit, Faure-Dupuy, Suzanne, Riedl, Tobias, Schuehle, Svenja, Oliveira, Claudia P., Alves, Venancio A., Boffetta, Paolo, Lachenmayer, Anja, Roessler, Stephanie, Minguez, Beatriz, Schirmacher, Peter, Dufour, Jean-François, Thung, Swan N., Reeves, Helen L., Carrilho, Flair J., Chang, Charissa, Uzilov, Andrew V., Heikenwalder, Mathias, Sanyal, Arun, Friedman, Scott L., Sia, Daniela, and Llovet, Josep M.

Published
2021
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2. A Drosophila platform identifies a novel, personalized therapy for a patient with adenoid cystic carcinoma

Author

Bangi, Erdem, Smibert, Peter, Uzilov, Andrew V., Teague, Alexander G., Gopinath, Sindhura, Antipin, Yevgeniy, Chen, Rong, Hecht, Chana, Gruszczynski, Nelson, Yon, Wesley J., Malyshev, Denis, Laspina, Denise, Selkridge, Isaiah, Wang, Huan, Gomez, Jorge, Mascarenhas, John, Moe, Aye S., Lau, Chun Yee, Taik, Patricia, Pandya, Chetanya, Sung, Max, Kim, Sara, Yum, Kendra, Sebra, Robert, Donovan, Michael, Misiukiewicz, Krzysztof, Ang, Celina, Schadt, Eric E., Posner, Marshall R., and Cagan, Ross L.

Published
2021
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4. Supplementary Figure from Hepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents

Author

Torrens, Laura, primary, Puigvehí, Marc, primary, Torres-Martín, Miguel, primary, Wang, Huan, primary, Maeda, Miho, primary, Haber, Philipp K., primary, Leonel, Thais, primary, García-López, Mireia, primary, Esteban-Fabró, Roger, primary, Leow, Wei Qiang, primary, Montironi, Carla, primary, Torrecilla, Sara, primary, Varadarajan, Ajay Ramakrishnan, primary, Taik, Patricia, primary, Campreciós, Genís, primary, Enkhbold, Chinbold, primary, Taivanbaatar, Erdenebileg, primary, Yerbolat, Amankyeldi, primary, Villanueva, Augusto, primary, Pérez-del-Pulgar, Sofía, primary, Thung, Swan, primary, Chinburen, Jigjidsuren, primary, Letouzé, Eric, primary, Zucman-Rossi, Jessica, primary, Uzilov, Andrew, primary, Neely, Jaclyn, primary, Forns, Xavier, primary, Roayaie, Sasan, primary, Sia, Daniela, primary, and Llovet, Josep M., primary

Published
2023
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5. Supplementary Data from Hepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents

Author

Torrens, Laura, primary, Puigvehí, Marc, primary, Torres-Martín, Miguel, primary, Wang, Huan, primary, Maeda, Miho, primary, Haber, Philipp K., primary, Leonel, Thais, primary, García-López, Mireia, primary, Esteban-Fabró, Roger, primary, Leow, Wei Qiang, primary, Montironi, Carla, primary, Torrecilla, Sara, primary, Varadarajan, Ajay Ramakrishnan, primary, Taik, Patricia, primary, Campreciós, Genís, primary, Enkhbold, Chinbold, primary, Taivanbaatar, Erdenebileg, primary, Yerbolat, Amankyeldi, primary, Villanueva, Augusto, primary, Pérez-del-Pulgar, Sofía, primary, Thung, Swan, primary, Chinburen, Jigjidsuren, primary, Letouzé, Eric, primary, Zucman-Rossi, Jessica, primary, Uzilov, Andrew, primary, Neely, Jaclyn, primary, Forns, Xavier, primary, Roayaie, Sasan, primary, Sia, Daniela, primary, and Llovet, Josep M., primary

Published
2023
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6. Hepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents

Author

Torrens, Laura, primary, Puigvehí, Marc, additional, Torres-Martín, Miguel, additional, Wang, Huan, additional, Maeda, Miho, additional, Haber, Philipp K., additional, Leonel, Thais, additional, García-López, Mireia, additional, Esteban-Fabró, Roger, additional, Leow, Wei Qiang, additional, Montironi, Carla, additional, Torrecilla, Sara, additional, Varadarajan, Ajay Ramakrishnan, additional, Taik, Patricia, additional, Campreciós, Genís, additional, Enkhbold, Chinbold, additional, Taivanbaatar, Erdenebileg, additional, Yerbolat, Amankyeldi, additional, Villanueva, Augusto, additional, Pérez-del-Pulgar, Sofía, additional, Thung, Swan, additional, Chinburen, Jigjidsuren, additional, Letouzé, Eric, additional, Zucman-Rossi, Jessica, additional, Uzilov, Andrew, additional, Neely, Jaclyn, additional, Forns, Xavier, additional, Roayaie, Sasan, additional, Sia, Daniela, additional, and Llovet, Josep M., additional

Published
2022
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7. Inflamed and non-inflamed classes of HCC: a revised immunogenomic classification

Author

Montironi, Carla, primary, Castet, Florian, additional, Haber, Philipp K, additional, Pinyol, Roser, additional, Torres-Martin, Miguel, additional, Torrens, Laura, additional, Mesropian, Agavni, additional, Wang, Huan, additional, Puigvehi, Marc, additional, Maeda, Miho, additional, Leow, Wei Qiang, additional, Harrod, Elizabeth, additional, Taik, Patricia, additional, Chinburen, Jigjidsuren, additional, Taivanbaatar, Erdenebileg, additional, Chinbold, Enkhbold, additional, Solé Arqués, Manel, additional, Donovan, Michael, additional, Thung, Swan, additional, Neely, Jaclyn, additional, Mazzaferro, Vincenzo, additional, Anderson, Jeffrey, additional, Roayaie, Sasan, additional, Schwartz, Myron, additional, Villanueva, Augusto, additional, Friedman, Scott L, additional, Uzilov, Andrew, additional, Sia, Daniela, additional, and Llovet, Josep M, additional

Published
2022
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8. Corrigendum to ‘Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis’ [J Hepatol 75 (2021) 865–878]

Author

Pinyol, Roser, primary, Torrecilla, Sara, additional, Wang, Huan, additional, Montironi, Carla, additional, Piqué-Gili, Marta, additional, Torres-Martin, Miguel, additional, Wei-Qiang, Leow, additional, Willoughby, Catherine E., additional, Ramadori, Pierluigi, additional, Andreu-Oller, Carmen, additional, Taik, Patricia, additional, Lee, Youngmin A., additional, Moeini, Agrin, additional, Peix, Judit, additional, Faure-Dupuy, Suzanne, additional, Riedl, Tobias, additional, Schuehle, Svenja, additional, Oliveira, Claudia P., additional, Alves, Venancio A., additional, Boffetta, Paolo, additional, Lachenmayer, Anja, additional, Roessler, Stephanie, additional, Minguez, Beatriz, additional, Schirmacher, Peter, additional, Dufour, Jean-François, additional, Thung, Swan N., additional, Reeves, Helen L., additional, Carrilho, Flair J., additional, Chang, Charissa, additional, Uzilov, Andrew V., additional, Heikenwalder, Mathias, additional, Sanyal, Arun, additional, Friedman, Scott L., additional, Sia, Daniela, additional, and Llovet, Josep M., additional

Published
2021
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9. Inflamed and non-inflamed classes of HCC: a revised immunogenomic classification.

Author

Montironi, Carla, Castet, Florian, Haber, Philipp K., Pinyol, Roser, Torres-Martin, Miguel, Torrens, Laura, Mesropian, Agavni, Huan Wang, Puigvehi, Marc, Maeda, Miho, Wei Qiang Leow, Harrod, Elizabeth, Taik, Patricia, Chinburen, Jigjidsuren, Taivanbaatar, Erdenebileg, Chinbold, Enkhbold, Arqués, Manel Solé, Donovan, Michael, Swan Thung, and Neely, Jaclyn

Subjects
GENE expression, TYPE I interferons, MOLECULAR biology, TUMOR-infiltrating immune cells, CIRCULATING tumor DNA
Published
2023
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10. Corrigendum to 'Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis' [J Hepatol 75 (2021) 865-878]

Author

Pinyol, Roser, Torrecilla, Sara, Wang, Huan, Montironi, Carla, Piqué-Gili, Marta, Torres-Martin, Miguel, Wei-Qiang, Leow, Willoughby, Catherine E, Ramadori, Pierluigi, Andreu-Oller, Carmen, Taik, Patricia, Lee, Youngmin A, Moeini, Agrin, Peix, Judit, Faure-Dupuy, Suzanne, Riedl, Tobias, Schuehle, Svenja, Oliveira, Claudia P, Alves, Venancio A, Boffetta, Paolo, Lachenmayer, Anja, Roessler, Stephanie, Minguez, Beatriz, Schirmacher, Peter, Dufour, Jean-François, Thung, Swan N, Reeves, Helen L, Carrilho, Flair J, Chang, Charissa, Uzilov, Andrew V, Heikenwalder, Mathias, Sanyal, Arun, Friedman, Scott L, Sia, Daniela, and Llovet, Josep M

Subjects
610 Medicine & health
Published
2021
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11. Parafibromin Abnormalities in Ossifying Fibroma

Author

Costa-Guda, Jessica, primary, Pandya, Chetanya, additional, Strahl, Maya, additional, Taik, Patricia, additional, Sebra, Robert, additional, Chen, Rong, additional, Uzilov, Andrew V, additional, and Arnold, Andrew, additional

Published
2021
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12. USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors

Author

Uzilov, Andrew V, primary, Taik, Patricia, additional, Cheesman, Khadeen C, additional, Javanmard, Pedram, additional, Ying, Kai, additional, Roehnelt, Alessia, additional, Wang, Huan, additional, Fink, Marc Y, additional, Lau, Chun Yee, additional, Moe, Aye S, additional, Villar, Joaquin, additional, Bederson, Joshua B, additional, Stewart, Andrew F, additional, Donovan, Michael J, additional, Mahajan, Milind, additional, Sebra, Robert, additional, Post, Kalmon D, additional, Chen, Rong, additional, and Geer, Eliza B, additional

Published
2020
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13. Refining the immune class of hepatocellular carcinoma

Author

Pinyol, Roser, primary, Sia, Daniela, additional, Torres-Martin, Miguel, additional, Wang, Huan, additional, Haber, Philipp, additional, Puigvehi, Marc, additional, Montironi, Carla, additional, Maeda, Miho, additional, Leow, Wei Qiang, additional, Harrod, Elizabeth, additional, Taik, Patricia, additional, Jigjidsuren, Chinburen, additional, Taivanbaatar, Erdenebileg, additional, Enkhbold, Chinbold, additional, Donovan, Michael, additional, Thung, Swan, additional, Neely, Jaclyn, additional, Mazzaferro, Vincenzo, additional, Anderson, Jeff, additional, Roayaie, Sasan, additional, Schwartz, Myron, additional, Villanueva, Augusto, additional, Friedman, Scott, additional, Uzilov, Andrew, additional, and Llovet, Josep, additional

Published
2020
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14. A personalized platform identifies trametinib plus zoledronate for a patient with KRAS-mutant metastatic colorectal cancer

Author

Bangi, Erdem, primary, Ang, Celina, additional, Smibert, Peter, additional, Uzilov, Andrew V., additional, Teague, Alexander G., additional, Antipin, Yevgeniy, additional, Chen, Rong, additional, Hecht, Chana, additional, Gruszczynski, Nelson, additional, Yon, Wesley J., additional, Malyshev, Denis, additional, Laspina, Denise, additional, Selkridge, Isaiah, additional, Rainey, Hope, additional, Moe, Aye S., additional, Lau, Chun Yee, additional, Taik, Patricia, additional, Wilck, Eric, additional, Bhardwaj, Aarti, additional, Sung, Max, additional, Kim, Sara, additional, Yum, Kendra, additional, Sebra, Robert, additional, Donovan, Michael, additional, Misiukiewicz, Krzysztof, additional, Schadt, Eric E., additional, Posner, Marshall R., additional, and Cagan, Ross L., additional

Published
2019
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15. USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors.

Author

Uzilov, Andrew V., Taik, Patricia, Cheesman, Khadeen C., Javanmard, Pedram, Kai Ying, Roehnelt, Alessia, Huan Wang, Fink, Marc Y., Chun Yee Lau, Moe, Aye S., Villar, Joaquin, Bederson, Joshua B., Stewart, Andrew F., Donovan, Michael J., Mahajan, Milind, Sebra, Robert, Post, Kalmon D., Rong Chen, Geer, Eliza B., and Ying, Kai

Subjects
SOMATIC mutation, HEREDITARY nonpolyposis colorectal cancer, MICROSATELLITE repeats, MAGNETIC resonance imaging
Abstract

Context: Pituitary corticotroph adenomas are rare tumors that can be associated with excess adrenocorticotropin (ACTH) and adrenal cortisol production, resulting in the clinically debilitating endocrine condition Cushing disease. A subset of corticotroph tumors behave aggressively, and genomic drivers behind the development of these tumors are largely unknown.Objective: To investigate genomic drivers of corticotroph tumors at risk for aggressive behavior.Design: Whole-exome sequencing of patient-matched corticotroph tumor and normal deoxyribonucleic acid (DNA) from a patient cohort enriched for tumors at risk for aggressive behavior.Setting: Tertiary care center.Patients: Twenty-seven corticotroph tumors from 22 patients were analyzed. Twelve tumors were macroadenomas, of which 6 were silent ACTH tumors, 2 were Crooke's cell tumors, and 1 was a corticotroph carcinoma.Intervention: Whole-exome sequencing.Main Outcome Measure: Somatic mutation genomic biomarkers.Results: We found recurrent somatic mutations in USP8 and TP53 genes, both with higher allelic fractions than other somatic mutations. These mutations were mutually exclusive, with TP53 mutations occurring only in USP8 wildtype (WT) tumors, indicating they may be independent driver genes. USP8-WT tumors were characterized by extensive somatic copy number variation compared with USP8-mutated tumors. Independent of molecular driver status, we found an association between invasiveness, macroadenomas, and aneuploidy.Conclusions: Our data suggest that corticotroph tumors may be categorized into a USP8-mutated, genome-stable subtype versus a USP8-WT, genome-disrupted subtype, the latter of which has a TP53-mutated subtype with high level of chromosome instability. These findings could help identify high risk corticotroph tumors, namely those with widespread CNV, that may need closer monitoring and more aggressive treatment. [ABSTRACT FROM AUTHOR]

Published
2021
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16. THU501 - Refining the immune class of hepatocellular carcinoma

Author

Pinyol, Roser, Sia, Daniela, Torres-Martin, Miguel, Wang, Huan, Haber, Philipp, Puigvehi, Marc, Montironi, Carla, Maeda, Miho, Leow, Wei Qiang, Harrod, Elizabeth, Taik, Patricia, Jigjidsuren, Chinburen, Taivanbaatar, Erdenebileg, Enkhbold, Chinbold, Donovan, Michael, Thung, Swan, Neely, Jaclyn, Mazzaferro, Vincenzo, Anderson, Jeff, Roayaie, Sasan, Schwartz, Myron, Villanueva, Augusto, Friedman, Scott, Uzilov, Andrew, and Llovet, Josep

Published
2020
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18. Phase II Clinical and Translational Study of Everolimus ± Paclitaxel as First-Line Therapy in Cisplatin-Ineligible Advanced Urothelial Carcinoma.

Author

Jun, Tomi, Hahn, Noah M, Sonpavde, Guru, Albany, Constantine, MacVicar, Gary R, Hauke, Ralph, Fleming, Mark, Gourdin, Theodore, Jana, Bagi, Oh, William K, Taik, Patricia, Wang, Huan, Varadarajan, Ajay Ramakrishnan, Uzilov, Andrew, and Galsky, Matthew D

Subjects
THERAPEUTIC use of antineoplastic agents, EPITHELIAL cell tumors, CLINICAL trials, CONFIDENCE intervals, ANTINEOPLASTIC agents, METASTASIS, URINARY organs, TREATMENT effectiveness, EVEROLIMUS, DESCRIPTIVE statistics, PACLITAXEL, PHARMACODYNAMICS
Abstract

Background Treatment options have been historically limited for cisplatin-ineligible patients with advanced urothelial carcinoma (UC). Given the need for alternatives to platinum-based chemotherapy, including non-chemotherapy regimens for patients with both impaired renal function and borderline functional status, in 2010 (prior to the immune checkpoint blockade era in metastatic UC), we initiated a phase II trial to test the activity of everolimus or everolimus plus paclitaxel in the cisplatin-ineligible setting. Methods This was an open-label phase II trial conducted within the US-based Hoosier Cancer Research Network (ClinicalTrials.gov number: NCT01215136). Patients who were cisplatin-ineligible with previously untreated advanced UC were enrolled. Patients with both impaired renal function and poor performance status were enrolled into cohort 1; patients with either were enrolled into cohort 2. Patients received everolimus 10 mg daily alone (cohort 1) or with paclitaxel 80 mg/m2 on days 1, 8, and 15 of each 28-day cycle (cohort 2). The primary outcome was clinical benefit at 4 months. Secondary outcomes were adverse events, progression-free survival (PFS), and 1-year overall survival (OS). Exploratory endpoints included genomic correlates of outcomes. The trial was not designed for comparison between cohorts. Results A total of 36 patients were enrolled from 2010 to 2018 (cohort 1, N = 7; cohort 2, N = 29); the trial was terminated due to slow accrual. Clinical benefit at 4 months was attained by 0 (0%, 95% confidence interval [CI] 0-41.0%) patients in cohort 1 and 11 patients (37.9%, 95% CI 20.7-57.7%) in cohort 2. Median PFS was 2.33 (95% CI 1.81-Inf) months in cohort 1 and 5.85 (95% CI 2.99-8.61) months in cohort 2. Treatment was discontinued due to adverse events for 2 patients (29%) in cohort 1 and 11 patients (38%) in cohort 2. Molecular alterations in microtubule associated genes may be associated with treatment benefit but this requires further testing. Conclusion Everolimus plus paclitaxel demonstrates clinical activity in cisplatin-ineligible patients with metastatic UC, although the specific contribution of everolimus cannot be delineated. Patients with both impaired renal function and borderline functional status may be difficult to enroll to prospective trials. (ClinicalTrials.gov Identifier NCT01215136). [ABSTRACT FROM AUTHOR]

Published
2022
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