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1. Differential diagnosis of bone marrow failure syndromes guided by machine learning

Author

Gutierrez-Rodrigues, Fernanda, Munger, Eric, Ma, Xiaoyang, Groarke, Emma M., Tang, Youbao, Patel, Bhavisha A., Catto, Luiz Fernando B., Clé, Diego V., Niewisch, Marena R., Alves-Paiva, Raquel M., Donaires, Flávia S., Pinto, André Luiz, Borges, Gustavo, Santana, Barbara A., McReynolds, Lisa J., Giri, Neelam, Altintas, Burak, Fan, Xing, Shalhoub, Ruba, Siwy, Christopher M., Diamond, Carrie, Raffo, Diego Quinones, Craft, Kathleen, Kajigaya, Sachiko, Summers, Ronald M., Liu, Paul, Cunningham, Lea, Hickstein, Dennis D., Dunbar, Cynthia E., Pasquini, Ricardo, De Oliveira, Michel Michels, Velloso, Elvira D. R. P., Alter, Blanche P., Savage, Sharon A., Bonfim, Carmem, Wu, Colin O., Calado, Rodrigo T., and Young, Neal S.

Published
2023
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2. Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular Consensus on genetically modified cells. III: anti-CD19 CAR-T cell therapy for patients with non-Hodgkin lymphoma

Author

Alencar, Alvaro J., Hirayama, Alexandre V., Clé, Diego V., Salvino, Marco Aurélio, Perini, Guilherme, Arrais, Celso, Baiocchi, Otávio, Palma, Leonardo Carvalho, Colturato, Iago, Vaz, Jorge, Chiattone, Ricardo, de Lima, Marcos, Filho, Jayr Schmidt, Nabhan, Samir, Rocha, Vanderson, Guerino-Cunha, Renato L., and Chiattone, Carlos S.

Published
2021
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3. Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular Consensus on genetically modified cells. I: Structuring centers for the multidisciplinary clinical administration and management of CAR-T cell therapy patients

Author

Clé, Diego V., Hirayama, Alexandre V., Alencar, Alvaro J., Costa, Luciano J., Feliciano, João V.P., Mattos, Ederson R., Cordeiro, Ana C., Salvino, Marco Aurélio, Barros, George M. Navarro, de Lima, Marcos, Scheinberg, Phillip, and Guerino-Cunha, Renato L.

Published
2021
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4. Pathogenic TERT promoter variants in telomere diseases

Author

Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., and Young, Neal S.

Published
2019
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5. Rabbit antithymocyte globulin dose does not affect response or survival as first-line therapy for acquired aplastic anemia: a multicenter retrospective study

Author

Clé, Diego V., Atta, Elias H., Dias, Danielle S. P., Lima, Carlos B. L., Bonduel, Mariana, Sciuccati, Gabriela, Medeiros, Larissa A., de Oliveira, Michel M., Blum Fonseca, Patricia B., Saad, Sara T. O., Hamerschlak, Nelson, Salvino, Marco A., Garanito, Marlene P., Pazin-Filho, Antonio, Scheinberg, Phillip, and Calado, Rodrigo T.

Published
2018
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8. Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial

Author

Clé, Diego V., primary, Catto, Luiz Fernando B., additional, Gutierrez-Rodrigues, Fernanda, additional, Donaires, Flávia S., additional, Pinto, Andre L., additional, Santana, Barbara A., additional, Darrigo, Luiz Guilherme, additional, Valera, Elvis T., additional, Koenigkam-Santos, Marcel, additional, Baddini-Martinez, José, additional, Young, Neal S., additional, Martinez, Edson Z., additional, and Calado, Rodrigo T., additional

Published
2022
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9. Differential diagnosis of bone marrow failure syndromes guided by machine learning

Author

Gutierrez-Rodrigues, Fernanda, primary, Munger, Eric, additional, Ma, Xiaoyang, additional, Groarke, Emma M., additional, Tang, Youbao, additional, Patel, Bhavisha A, additional, Catto, Luiz Fernando B., additional, Clé, Diego V, additional, Niewisch, Marena R., additional, Paiva, Raquel MA, additional, Donaires, Flavia, additional, Pinto, André Luiz, additional, Borges, Gustavo, additional, Santana, Barbara A., additional, McReynolds, Lisa J, additional, Giri, Neelam, additional, Altintas, Burak, additional, Fan, Xing, additional, Shalhoub, Ruba N, additional, Siwy, Christopher Mark, additional, Diamond, Carrie, additional, Quinones Raffo, Diego, additional, Craft, Kathleen Marie, additional, Kajigaya, Sachiko, additional, Summers, Ronald M, additional, Liu, Paul P., additional, Cunningham, Lea, additional, Hickstein, Dennis D, additional, Dunbar, Cynthia E., additional, Pasquini, Ricardo, additional, de Oliveira, Michel Michels, additional, Velloso, Elvira D R P, additional, Alter, Blanche P, additional, Savage, Sharon A, additional, Bonfim, Carmem M.S., additional, Wu, Colin O., additional, Calado, Rodrigo T., additional, and Young, Neal S, additional

Published
2022
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10. Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes

Author

Gutierrez-Rodrigues, Fernanda, primary, Munger, Eric, additional, Ma, Xiaoyang, additional, Tang, Youbao, additional, Groarke, Emma M, additional, Patel, Bhavisha A., additional, Catto, Luiz Fernando Bazzo, additional, Clé, Diego V, additional, Niewisch, Marena R., additional, Donaires, Flávia S, additional, Kajigaya, Sachiko, additional, Dunbar, Cynthia E., additional, Giri, Neelam, additional, De Oliveira, Michel Michels, additional, McReynolds, Lisa J., additional, Alter, Blanche P., additional, Savage, Sharon A., additional, Bonfim, Carmem M. S., additional, Wu, Colin O., additional, Calado, Rodrigo T., additional, and Young, Neal S., additional

Published
2021
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11. Clonal Hematopoiesis in Telomere Biology Disorders Associates with the Underlying Germline Defect and Somatic Mutations in POT1, PPM1D, andTERT promoter

Author

Gutierrez-Rodrigues, Fernanda, primary, Groarke, Emma M, additional, Clé, Diego V, additional, Patel, Bhavisha A., additional, Donaires, Flávia S, additional, Spitofsky, Nina, additional, Alemu, Lemlem, additional, Santana, Bárbara A, additional, Kajigaya, Sachiko, additional, Colla, Simona, additional, De Oliveira, Michel Michels, additional, Bonfim, Carmem M. S., additional, Calado, Rodrigo T., additional, and Young, Neal S., additional

Published
2021
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14. Telomere Elongation and Clinical Improvement in Telomeropathy Patients: A Prospective Clinical Trial of Nandrolone in Telomeropathies

Author

Clé, Diego V, primary, Catto, Luiz Fernando, additional, Darrigo, Luiz Guilherme, additional, Valera, Elvis, additional, Gutierrez-Rodrigues, Fernanda, additional, Donaires, Flavia S., additional, Pinto, André, additional, Albino, Renan C., additional, Santana, Bárbara, additional, Baddini-Martinez, Jose, additional, and Calado, Rodrigo T., additional

Published
2019
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16. Towards Improved Decision-Making Based on Genomics in Bone Marrow Failure

Author

Gutierrez-Rodrigues, Fernanda, primary, Diamond, Carrie, additional, Shalhoub, Ruba, additional, Pinto, André, additional, Donaires, Flávia S, additional, Clé, Diego V, additional, Darrigo, Luiz Guilherme, additional, Catto, Luiz Fernando, additional, Fan, Xing, additional, Fernandez Ibanez, Maria del Pilar, additional, Kajigaya, Sachiko, additional, Dunbar, Cynthia E., additional, Bonfim, Carmem M. S., additional, Townsley, Danielle M., additional, Calado, Rodrigo T., additional, and Young, Neal S., additional

Published
2018
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17. Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Author

Gutierrez-Rodrigues, Fernanda, primary, Donaires, Flávia S, additional, Pinto, André, additional, Vicente, Alana, additional, Dillon, Laura, additional, Clé, Diego V, additional, Santana, Bárbara, additional, Fernandez Ibanez, Maria del Pilar, additional, Townsley, Danielle M., additional, Kajigaya, Sachiko, additional, Hourigan, Christopher S., additional, Cooper, James N., additional, Calado, Rodrigo T., additional, and Young, Neal S., additional

Published
2018
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19. Pathogenic TERTpromoter variants in telomere diseases

Author

Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., and Young, Neal S.

Abstract

The acquisition of pathogenic variants in the TERTpromoter (TERTp)region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTpvariants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes.

Published
2019
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20. Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Author

Gutierrez-Rodrigues, Fernanda, Groarke, Emma M., Thongon, Natthakan, Rodriguez-Sevilla, Juan Jose, Catto, Luiz Fernando B., Niewisch, Marena R., Shalhoub, Ruba, McReynolds, Lisa J., Clé, Diego V., Patel, Bhavisha A., Ma, Xiaoyang, Hironaka, Dalton, Donaires, Flávia S., Spitofsky, Nina, Santana, Barbara A., Lai, Tsung-Po, Alemu, Lemlem, Kajigaya, Sachiko, Darden, Ivana, Zhou, Weiyin, Browne, Paul V., Paul, Subrata, Lack, Justin, Young, David J., DiNardo, Courtney D., Aviv, Abraham, Ma, Feiyang, De Oliveira, Michel Michels, de Azambuja, Ana Paula, Dunbar, Cynthia E., Olszewska, Malgorzata, Olivier, Emmanuel, Papapetrou, Eirini P., Giri, Neelam, Alter, Blanche P., Bonfim, Carmem, Wu, Colin O., Garcia-Manero, Guillermo, Savage, Sharon A., Young, Neal S., Colla, Simona, and Calado, Rodrigo T.

Abstract

•Clonal signatures of TBD associate with age and the underlying genotype, and are markers of malignant clonal evolution and poor survival.•In contrast to POT1/PPM1D/TERTpmutations, Chr1q+, U2AF1S34, and TP53somatic mutations are key drivers of cancer development in TBD.

Published
2024
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21. Repeat Course of Rabbit Antithymocyte Globulin As Salvage Following Initial Therapy with Rabbit Antithymocyte Globulin in Acquired Aplastic Anemia

Author

Clé, Diego V., primary, Atta, Elias H., additional, Dias, Danielle S. P., additional, Lima, Carlos B. L., additional, Bonduel, Mariana M., additional, Sciuccati, Gabriela B., additional, Medeiros, Larissa A., additional, Oliveira, Michel M., additional, Salvino, Marco A., additional, Garanito, Marlene P., additional, Olalla Saad, Sara Teresinha, additional, Calado, Rodrigo T., additional, and Scheinberg, Phillip, additional

Published
2014
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23. Álcool e sistema nervoso central

Author

Haes, Tissiana Marques, primary, Clé, Diego V., additional, Nunes, Tiago F., additional, Roriz-Filho, Jarbas S., additional, and Moriguti, Julio C., additional

Published
2010
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25. Clonal Hematopoiesis in Telomere Biology Disorders Associates with the Underlying Germline Defect and Somatic Mutations in POT1, PPM1D,and TERTpromoter

Author

Gutierrez-Rodrigues, Fernanda, Groarke, Emma M, Clé, Diego V, Patel, Bhavisha A., Donaires, Flávia S, Spitofsky, Nina, Alemu, Lemlem, Santana, Bárbara A, Kajigaya, Sachiko, Colla, Simona, De Oliveira, Michel Michels, Bonfim, Carmem M.S., Calado, Rodrigo T., and Young, Neal S.

Abstract

Introduction:Telomere biology (TBD) disorders are caused by pathogenic germline variants in genes related to telomere maintenance. In TBD, clonal hematopoiesis (CH) has been hypothesized to compensate for restricted cell fitness and to lead to development of myelodysplastic syndromes and acute myeloid leukemia (MDS/AML). We sought to characterize the clonal landscape and dynamics by deep sequencing of a large cohort of TBD patients with a broad spectrum of phenotypes and ages.

Published
2021
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26. Somatic TERTpromoter Mutations in a Broad Spectrum of Telomeropathies

Author

Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S, Pinto, André, Vicente, Alana, Dillon, Laura, Clé, Diego V, Santana, Bárbara, Fernandez Ibanez, Maria del Pilar, Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., and Young, Neal S.

Abstract

Telomerase reactivation by acquisition of mutations in the TERTpromoter (TERTp)region is a mechanism of tumorigenesis. The most common TERTpmutations are located in positions -146, -124, and -57 upstream the initiation codon. In non-malignant diseases, TERTpmutations only have been reported in patients with idiopathic pulmonary fibrosis (IPF) caused by germline mutations in telomere biology genes, that are also etiologic in a broader spectrum of diseases collectively named telomeropathies (such as IPF, aplastic anemia [AA], dyskeratosis congenita [DC], and cirrhosis).

Published
2018
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27. Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.

Author

Clé DV, Catto LFB, Gutierrez-Rodrigues F, Donaires FS, Pinto AL, Santana BA, Darrigo LG, Valera ET, Koenigkam-Santos M, Baddini-Martinez J, Young NS, Martinez EZ, and Calado RT

Subjects
Humans, In Situ Hybridization, Fluorescence, Nandrolone Decanoate, Prospective Studies, Retrospective Studies, Telomere, Lung Diseases, Interstitial
Abstract

Androgens have been reported to elongate telomeres in retrospective and prospective trials with patients with telomeropathies, mainly with bone marrow failure. In our single-arm prospective clinical trial (clinicaltrials gov. Identifier: NCT02055456), 17 patients with short telomeres and/or germline pathogenic variants in telomere biology genes associated with at least one cytopenia and/or radiologic diagnosis of interstitial lung disease were treated with 5 mg/kg of intramuscular nandrolone decanoate every 15 days for 2 years. Ten of 13 evaluable patients (77%) showed telomere elongation at 12 months by flow-fluorescence in situ hybridization (average increase, 0.87 kb; 95% confidence interval: 0.20-1.55 kb; P=0.01). At 24 months, all ten evaluable patients showed telomere elongation (average increase, 0.49 kb; 95% confidence interval: 0.24-1.23 kb; P=0.18). Hematologic response was achieved in eight of 16 patients (50%) with marrow failure at 12 months, and in ten of 16 patients (63%) at 24 months. Seven patients had interstitial lung disease at baseline, and two and three had pulmonary response at 12 and 24 months, respectively. Two patients died due to pulmonary failure during treatment. In the remaining evaluable patients, the pulmonary function remained stable or improved, but showed consistent decline after cessation of treatment. Somatic mutations in myeloid neoplasm-related genes were present in a minority of patients and were mostly stable during drug treatment. The most common adverse events were elevations in liver function test levels in 88%, acne in 59%, and virilization in 59%. No adverse events grade ≥4 was observed. Our findings indicate that nandrolone decanoate elongates telomeres in patients with telomeropathies, which correlated with clinical improvement in some cases and tolerable adverse events.

Published
2023
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28. Repeat course of rabbit antithymocyte globulin as salvage following initial therapy with rabbit antithymocyte globulin in acquired aplastic anemia.

Author

Clé DV, Atta EH, Dias DS, Lima CB, Bonduel M, Sciuccati G, Medeiros LA, de Oliveira MM, Salvino MA, Garanito M, Saad ST, Calado RT, and Scheinberg P

Subjects
Anemia, Aplastic mortality, Anemia, Aplastic pathology, Animals, Disease-Free Survival, Female, Humans, Male, Rabbits, Survival Rate, Anemia, Aplastic drug therapy, Antilymphocyte Serum administration & dosage, Immunologic Factors administration & dosage, Salvage Therapy
Published
2015
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