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9,371 results on '"Rambaldi, A."'

1. Allogeneic hematopoietic stem-cell transplantation for patients with Richter transformation: a retrospective study on behalf of the Chronic Malignancies Working Party of the EBMT

Author

Guièze, Romain, Eikema, Diderik-Jan, Koster, Linda, Schetelig, Johannes, Sengeloev, Henrik, Passweg, Jakob, Finke, Jürgen, Arat, Mutlu, Broers, Annoek E. C., Stölzel, Friedrich, Byrne, Jenny, Castilla-Llorente, Cristina, Dreger, Peter, Eder, Matthias, Gedde-Dahl, Tobias, Kröger, Nicolaus, Ribera Santasusana, Josep Maria, Richardson, Deborah, Rambaldi, Alessandro, Yañez, Lucrecia, Van Gelder, Michel, Drozd-Sokolowska, Joanna, Raj, Kavita, Yakoub-Agha, Ibrahim, Tournilhac, Olivier, and McLornan, Donal P.

Published
2024
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2. Post-transplant cyclophosphamide, calcineurin inhibitor, and mycophenolate mofetil compared to anti-thymocyte globulin, calcineurin inhibitor, and methotrexate combinations as graft-versus-host disease prophylaxis post allogeneic stem cell transplantation from sibling and unrelated donors in patients with acute myeloid leukemia: a study on behalf of the Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation

Author

Nagler, Arnon, Labopin, Myriam, Swoboda, Ryszard, Schroeder, Thomas, Hamladji, Rose-Marie, Griskevicius, Laimonas, Salmenniemi, Urpu, Rambaldi, Alessandro, Mielke, Stephan, Kulagin, Alexander, Passweg, Jakob, Luft, Thomas, Gedde-Dahl, Tobias, Forcade, Edouard, Helbig, Grzegorz, Stelljes, Matthias, Castilla-Llorente, Cristina, Spyridonidis, Alexandros, Brissot, Eolia, Ciceri, Fabio, and Mohty, Mohamad

Published
2024
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4. Effects of the fungicide carbendazim on the behaviour of the zebrafish Danio rerio (Cypriniformes, Cyprinidae)

Author

de Oliveira, Marcos Roberto Beiral, Profeta, Isabela Vieira, Saraiva Raimondi Lopes, João Victor, Costa, Raissa Miranda, Matos e Chaib, Victória Rambaldi, Domingues, Anderson Gonçalves, Beirão, Marina Vale, Santos Rubio, Karina Taciana, Martucci, Maria Elvira Poleti, Eskinazi-Sant’Anna, Eneida Maria, and de Azevedo, Cristiano Schetini

Published
2024
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7. Ropeginterferon phase 2 randomized study in low-risk polycythemia vera: 5-year drug survival and efficacy outcomes

Author

Barbui, Tiziano, Carobbio, Alessandra, De Stefano, Valerio, Alvarez-Larran, Alberto, Ghirardi, Arianna, Carioli, Greta, Fenili, Francesca, Rossi, Elena, Ciceri, Fabio, Bonifacio, Massimiliano, Iurlo, Alessandra, Palandri, Francesca, Benevolo, Giulia, Pane, Fabrizio, Ricco, Alessandra, Carli, Giuseppe, Caramella, Marianna, Rapezzi, Davide, Musolino, Caterina, Siragusa, Sergio, Rumi, Elisa, Patriarca, Andrea, Cascavilla, Nicola, Mora, Barbara, Cacciola, Emma, Calabresi, Laura, Loscocco, Giuseppe Gaetano, Guglielmelli, Paola, Gesullo, Francesca, Betti, Silvia, Ramundo, Francesco, Lunghi, Francesca, Scaffidi, Luigi, Bucelli, Cristina, Cattaneo, Daniele, Vianelli, Nicola, Bellini, Marta, Finazzi, Maria Chiara, Tognoni, Gianni, Rambaldi, Alessandro, and Vannucchi, Alessandro Maria

Published
2024
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8. Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

Author

Paulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, Indiara Correia Pereira, Igor Braga Farias, Renan Brandão Rambaldi Cavalheiro, Patrícia Marques Mendes, Kaliny Oliveira Peixoto, João Paulo Barile, Daniel Delgado Seneor, Eduardo Gleitzmann Correa Silva, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, and Paulo Sgobbi

Subjects
leukoencephalopathy, leukodystrophy, biomarker, chitotriosidase, CSF1R, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Biology (General), QH301-705.5
Abstract

Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still needs the proper identification of diagnostic, prognostic, and monitoring biomarkers. The aim of this study was to determine the diagnostic and prognostic value of chitinases and neurofilament light chain as biomarkers for ALSP. A cross-sectional study was performed to analyze cerebrospinal fluid levels of chitinases (chitotriosidase and chitinase 3-like 2) and neurofilament light chain in five different groups: (i) normal health individuals; (ii) patients with definitive diagnosis of ALSP and genetic confirmation; (iii) asymptomatic patients with CSF1R variants; (iv) patients with other adult-onset leukodystrophies; and (v) patients with amyotrophic lateral sclerosis (external control group). Chitinase levels showed a statistical correlation with clinical assessment parameters in ALSP patients. Chitinase levels were also distinct between ALSP and the other leukodystrophies. Significant differences were noted in the levels of chitinases and neurofilament light chain comparing symptomatic (ALSP) and asymptomatic individuals with CSF1R variants. This study is the first to establish chitinases as a potential biomarker for ALSP and confirms neurofilament light chain as a good biomarker for primary microgliopathies.

Published
2024
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10. Current incidence, severity, and management of veno-occlusive disease/sinusoidal obstruction syndrome in adult allogeneic HSCT recipients: an EBMT Transplant Complications Working Party study

Author

Ruutu, Tapani, Peczynski, Christophe, Houhou, Mohamed, Polge, Emmanuelle, Mohty, Mohamad, Kröger, Nicolaus, Moiseev, Ivan, Penack, Olaf, Salooja, Nina, Schoemans, Hélène, Duarte, Rafael F., Schroeder, Thomas, Passweg, Jakob, Wulf, Gerald G., Ganser, Arnold, Sica, Simona, Arat, Mutlu, Salmenniemi, Urpu, Broers, Annoek E. C., Bourhis, Jean Henri, Rambaldi, Alessandro, Maertens, Johan, Halaburda, Kazimierz, Zuckerman, Tsila, Labussière-Wallet, Hélène, Basak, Grzegorz, Koenecke, Christian, and Perić, Zinaida

Published
2023
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11. Rapid immune reconstitution following the infusion of autologous, Blinatumomab Expanded T-cells (BET) in patients with B-cell indolent NHL or CLL

Author

Giuseppe Gritti, Silvia Ferrari, Federico Lussana, Anna Maria Barbui, Francesco Landi, Monica Rondi, Alessandro Putelli, Francesco Ballardini, Giulia Quaresmini, Muriel Paganessi, Chiara Pavoni, Arianna Ghirardi, Elisa Gotti, Chiara Capelli, Josée Golay, Martino Introna, and Alessandro Rambaldi

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published
2024
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12. PTCy versus ATG as graft-versus-host disease prophylaxis in mismatched unrelated stem cell transplantation

Author

Olaf Penack, Mouad Abouqateb, Christophe Peczynski, William Boreland, Zafer Gülbas, Tobias Gedde-Dahl, Cristina Castilla-Llorente, Nicolaus Kröger, Mathias Eder, Alessandro Rambaldi, Francesca Bonifazi, Igor Wolfgang Blau, Matthias Stelljes, Peter Dreger, Ivan Moiseev, Hélène Schoemans, Christian Koenecke, and Zinaida Peric

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract There is an increased risk of GVHD and of non-relapse mortality (NRM) after allogeneic stem cell transplantations (alloSCT) when mismatched unrelated donors (MMUD) are used. In Europe, it is standard practice to use rabbit anti-thymocyte globulin (rATG) to reduce the high NRM and GVHD risks after MMUD alloSCT. As an alternative to rATG, post-transplantation Cyclophosphamide (PTCy) is in increasing clinical use. It is currently impossible to give general recommendations regarding preference for one method over another since comparative evidence from larger data sets is lacking. To improve the evidence base, we analyzed the outcome of rATG vs. PTCy prophylaxis in adult patients with hematologic malignancies undergoing first peripheral blood alloSCT from MMUD (9/10 antigen match) between Jan 2018 and June 2021 in the database of the European Society for Blood and Marrow Transplantation (EBMT). We performed multivariate analyses using the Cox proportional-hazards regression model. We included 2123 patients in the final analyses (PTCy, n = 583; rATG, n = 1540). p values and hazard ratios (HR) presented here are multivariate outcomes. Two years after alloSCT we found a lower NRM in the PTCy group of 18% vs. 24.9% in the rATG group; p = 0.028, HR 0.74. Overall survival in the PTCy cohort was higher with 65.7% vs. 55.7% in the rATG cohort; p

Published
2024
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14. An international survey on canine urinary incontinence: case frequency, diagnosis, treatment and follow-up

Author

M. V. Falceto, R. Caccamo, A. M. Garrido, M. C. Pisu, M. T. Tejedor, P. Trerotoli, S. Nicoli, P. Zagarella, I. Lippi, E. García-Pedraza, J. Rambaldi, D. Kirilova, and O. Mitjana

Subjects
urinary incontinence, USMI, dog, questionnaire, recommendations, Veterinary medicine, SF600-1100
Abstract

IntroductionUrinary incontinence (UI) consists of involuntary leakage of urine during the storage phase of urination.MethodsAn anonymous survey was given to Spanish and Italian veterinarians about canine UI treated cases, diagnosis, treatment, follow-up, and professional interest.Results and discussionMost veterinarians treated ≤3 cases/quarter, resulting in the percentage of incontinence males being lower than that of females (1-4% vs 0-24%). The percentage of spayed incontinent females was lower in Spain (0-24%) than in Italy (75-100%). Most diagnoses were based on a diagnostic algorithm (Spain: 88.7%; Italy: 65.3%); patient report and history, blood work, urinalysis and abdominal ultrasound. Urethral/bladder pressure measurement was unusual (Spain: 0.2%; Italy: 2.4%). In Spain, radiology with contrast medium and CT urography (26.3% and 34.4%, respectively) were more frequent than in Italy (11.6% and 22.7%, respectively). When suspecting urethral sphincter mechanism incompetence pharmacological trial (Spain: 93.2%; Italy: 78.9%). The first-choice medical treatment was Phenylpropanolamine, followed by Ephedrine and Deslorelin. When pharmacotherapy failed, the most frequent option was drug change, followed by increased drug dosage/frequency of administration, surgical therapy and colposuspension. A review was completed after the first week of treatment followed by periodic reviews. Most of the respondents participated in continuing education only if UI occurred in their everyday practice (Spain: 63.0%; Italy: 55.4%) and about 30% responders did it regardless of the number of UI cases treated (Spain: 30.5%; Italy: 37.4%).ConclusionSome recommendations in clinical practice were made. UI can be underestimated by owners; therefore, a complete history should be obtained by veterinarians. Veterinarians should carefully evaluate if spaying is advisable considering it could increase UI risk. A step-by-step approach is recommended and a specific diagnostic-therapeutic algorithm for UI in dogs is provided. Conservative approaches (regular exercise, weight loss in overweight dogs and observing an “incontinence diary” to identify abnormal patterns of urination) are advisable.

Published
2024
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16. miR-126 identifies a quiescent and chemo-resistant human B-ALL cell subset that correlates with minimal residual disease

Author

Caserta, Carolina, Nucera, Silvia, Barcella, Matteo, Fazio, Grazia, Naldini, Matteo Maria, Pagani, Riccardo, Pavesi, Francesca, Desantis, Giacomo, Zonari, Erika, D’Angiò, Mariella, Capasso, Paola, Lombardo, Angelo, Merelli, Ivan, Spinelli, Orietta, Rambaldi, Alessandro, Ciceri, Fabio, Silvestri, Daniela, Valsecchi, Maria Grazia, Biondi, Andrea, Cazzaniga, Giovanni, and Gentner, Bernhard

Published
2023
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18. GLP-1 receptor agonists-SGLT-2 inhibitors combination therapy and cardiovascular events after acute myocardial infarction: an observational study in patients with type 2 diabetes

Author

Raffaele Marfella, Francesco Prattichizzo, Celestino Sardu, Pier Francesco Rambaldi, Carlo Fumagalli, Ludovica Vittoria Marfella, Rosalba La Grotta, Chiara Frigé, Valeria Pellegrini, Davide D’Andrea, Arturo Cesaro, Paolo Calabrò, Carmine Pizzi, Roberto Antonicelli, Antonio Ceriello, Ciro Mauro, and Giuseppe Paolisso

Subjects
SGLT-2 inhibitors, GLP-1 receptor agonists, MACE, Heart failure, Myocardial infarction, Glucose-lowering drugs, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background Few studies explored the effect of the combination of glucose sodium-cotransporter-2 inhibitors (SGLT-2i) and glucagon-like peptide-1 receptor agonists (GLP-1RA) on the incidence of cardiovascular events in patients with type 2 diabetes (T2D) and acute myocardial infarction (AMI). Methods We recruited patients with T2D and AMI undergoing percutaneous coronary intervention, treated with either SGLT-2i or GLP-1RA for at least 3 months before hospitalization. Subjects with HbA1c 50% was higher in the SGLT-2i/GLP-1RA group compared with both SGLT-2i and GLP-1RA groups. Interpretation The combination of SGLT-2i and GLP-1RA is associated with a reduced incidence of cardiovascular events in patients with T2D and AMI compared with either drug used alone, with a significant effect also on peri-infarcted myocardial rescue in patients without a second event. Trial registraition ClinicalTrials.gov ID: NCT06017544.

Published
2024
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19. The impact of thrombosis on probabilities of death and disease progression in polycythemia vera: a multistate transition analysis of 1,545 patients

Author

Tiziano Barbui, Alessandra Carobbio, Juergen Thiele, Naseema Gangat, Elisa Rumi, Alessandro Rambaldi, Alessandro M. Vannucchi, Ayalew Tefferi, and IWG-MRT group

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract We applied a parametric Markov five-state model, on a well-characterized international cohort of 1,545 patients with polycythemia vera (PV; median age 61 years; females 51%), in order to examine the impact of incident thrombosis on the trajectory of death or disease progression. At a median follow-up of 6.9 years, 347 (23%) deaths, 50 (3%) blast phase (BP), and 138 (9%) fibrotic (post-PV MF) transformations were recorded. Incident thrombosis occurred at a rate of 2.62% pt/yr (arterial 1.59% and venous 1.05%). The probability of death, in the first 10 years, for 280 (18%) patients who developed thrombosis during follow-up was 40%, which was two-fold higher than that seen in the absence of thrombosis or any other transition state (20%; p

Published
2023
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20. Global genetic diversity, introgression, and evolutionary adaptation of indicine cattle revealed by whole genome sequencing

Author

Ningbo Chen, Xiaoting Xia, Quratulain Hanif, Fengwei Zhang, Ruihua Dang, Bizhi Huang, Yang Lyu, Xiaoyu Luo, Hucai Zhang, Huixuan Yan, Shikang Wang, Fuwen Wang, Jialei Chen, Xiwen Guan, Yangkai Liu, Shuang Li, Liangliang Jin, Pengfei Wang, Luyang Sun, Jicai Zhang, Jianyong Liu, Kaixing Qu, Yanhong Cao, Junli Sun, Yuying Liao, Zhengzhong Xiao, Ming Cai, Lan Mu, Amam Zonaed Siddiki, Muhammad Asif, Shahid Mansoor, Masroor Ellahi Babar, Tanveer Hussain, Gamamada Liyanage Lalanie Pradeepa Silva, Neena Amatya Gorkhali, Endashaw Terefe, Gurja Belay, Abdulfatai Tijjani, Tsadkan Zegeye, Mebrate Genet Gebre, Yun Ma, Yu Wang, Yongzhen Huang, Xianyong Lan, Hong Chen, Nicola Rambaldi Migliore, Giulia Colombo, Ornella Semino, Alessandro Achilli, Mikkel-Holger S. Sinding, Johannes A. Lenstra, Haijian Cheng, Wenfa Lu, Olivier Hanotte, Jianlin Han, Yu Jiang, and Chuzhao Lei

Subjects
Science
Abstract

Abstract Indicine cattle, also referred to as zebu (Bos taurus indicus), play a central role in pastoral communities across a wide range of agro-ecosystems, from extremely hot semiarid regions to hot humid tropical regions. However, their adaptive genetic changes following their dispersal into East Asia from the Indian subcontinent have remained poorly documented. Here, we characterize their global genetic diversity using high-quality whole-genome sequencing data from 354 indicine cattle of 57 breeds/populations, including major indicine phylogeographic groups worldwide. We reveal their probable migration into East Asia was along a coastal route rather than inland routes and we detected introgression from other bovine species. Genomic regions carrying morphology-, immune-, and heat-tolerance-related genes underwent divergent selection according to Asian agro-ecologies. We identify distinct sets of loci that contain promising candidate variants for adaptation to hot semi-arid and hot humid tropical ecosystems. Our results indicate that the rapid and successful adaptation of East Asian indicine cattle to hot humid environments was promoted by localized introgression from banteng and/or gaur. Our findings provide insights into the history and environmental adaptation of indicine cattle.

Published
2023
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22. Global genetic diversity, introgression, and evolutionary adaptation of indicine cattle revealed by whole genome sequencing

Author

Chen, Ningbo, Xia, Xiaoting, Hanif, Quratulain, Zhang, Fengwei, Dang, Ruihua, Huang, Bizhi, Lyu, Yang, Luo, Xiaoyu, Zhang, Hucai, Yan, Huixuan, Wang, Shikang, Wang, Fuwen, Chen, Jialei, Guan, Xiwen, Liu, Yangkai, Li, Shuang, Jin, Liangliang, Wang, Pengfei, Sun, Luyang, Zhang, Jicai, Liu, Jianyong, Qu, Kaixing, Cao, Yanhong, Sun, Junli, Liao, Yuying, Xiao, Zhengzhong, Cai, Ming, Mu, Lan, Siddiki, Amam Zonaed, Asif, Muhammad, Mansoor, Shahid, Babar, Masroor Ellahi, Hussain, Tanveer, Silva, Gamamada Liyanage Lalanie Pradeepa, Gorkhali, Neena Amatya, Terefe, Endashaw, Belay, Gurja, Tijjani, Abdulfatai, Zegeye, Tsadkan, Gebre, Mebrate Genet, Ma, Yun, Wang, Yu, Huang, Yongzhen, Lan, Xianyong, Chen, Hong, Migliore, Nicola Rambaldi, Colombo, Giulia, Semino, Ornella, Achilli, Alessandro, Sinding, Mikkel-Holger S., Lenstra, Johannes A., Cheng, Haijian, Lu, Wenfa, Hanotte, Olivier, Han, Jianlin, Jiang, Yu, and Lei, Chuzhao

Published
2023
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31. The Salto Morato Manifest for Conservation Translocations

Author

Fernando Fernandez, Caroline Leuchtenberger, Valquíria Araújo, Antonio Barbosa, Gonzalo Barquero, Christine Bernardo, Arnaud Desbiez, Daniel Felippi, Maron Galliez, Mariane Kaizer, Vanessa Kanaan, Mariana Landis, Fabiana Lopes-Rocha, Camile Lugarini, Paulo Mangini, Joares May-Junior, Fabiano Melo, Everton Miranda, Fabio Nunes, Marcos Oliveira, Rogério Paula, Denise Rambaldi, Lara Renzeti, Carlos Ruiz-Miranda, Elenise Sipinski, Marina Somenzari, Mônica Valença-Montenegro, and Marcelo Rheingantz

Subjects
General. Including nature conservation, geographical distribution, QH1-199.5
Published
2024
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34. Safety and efficacy of narsoplimab in pediatric and adult patients with transplant-associated thrombotic microangiopathy: a real-world experience

Author

Castelli, Marta, primary, Micò, Maria Caterina, additional, Grassi, Anna, additional, Algarotti, Alessandra, additional, Lussana, Federico, additional, Finazzi, Maria Chiara, additional, Rambaldi, Benedetta, additional, Pavoni, Chiara, additional, Rizzuto, Giuliana, additional, Tebaldi, Paola, additional, Vendemini, Francesca, additional, Verna, Marta, additional, Bonanomi, Sonia, additional, Biondi, Andrea, additional, Balduzzi, Adriana, additional, Rambaldi, Alessandro, additional, and Gotti, Giacomo, additional

Published
2024
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35. IPSAL: Implementation of the module to generate the Sobol sequence and indices

Author

Luiz Felipe Alves Borges, Fabio Freitas Ferreira, Fábio Gonçalves, Antônio Espósito Junior, Aline Fernanda da Silva Oliveira, and Wagner Rambaldi Telles

Subjects
sensitivity analysis, sobol method, unusual operation, parameter correlation, Engineering (General). Civil engineering (General), TA1-2040, Mathematics, QA1-939
Abstract

Sensitivity and uncertainty analysis hold significant importance across a range of applications, spanning from industrial problems to climate change, financial risk assessment, as well as mathematical and computational models. These analyses involve identifying influential input parameters in models to comprehend their impact on the output. Sensitivity analysis can be performed locally, examining parameter effects at a fixed value, or globally, evaluating the model across a range of parameter values. The Sobol method stands as a robust approach for global sensitivity analysis, employing a Sobol sequence to create samples more uniformly within the input parameter space, thus enabling efficient exploration of model inputs. This paper aims to introduce a computational implementation in Scilab to generate the Sobol sequence for utilization in sensitivity analysis through the Sobol method. A test case was applied to generate Sobol sequences and discuss the obtained results.

Published
2023
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36. Total body irradiation plus fludarabine versus busulfan plus fludarabine as a myeloablative conditioning for adults with acute myeloid leukemia treated with allogeneic hematopoietic cell transplantation. A study on behalf of the Acute Leukemia Working Party of the EBMT

Author

Swoboda, Ryszard, Labopin, Myriam, Giebel, Sebastian, Schroeder, Thomas, Kröger, Nicolaus, Arat, Mutlu, Savani, Bipin, Spyridonidis, Alexandros, Hamladji, Rose-Marie, Potter, Victoria, Berceanu, Ana, Yakoub-Agha, Ibrahim, Rambaldi, Alessandro, Ozdogu, Hakan, Sanz, Jaime, Nagler, Arnon, and Mohty, Mohamad

Published
2023
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37. Indication and management of allogeneic haematopoietic stem-cell transplantation in myelofibrosis: updated recommendations by the EBMT/ELN International Working Group

Author

Kröger, Nicolaus, Bacigalupo, Andrea, Barbui, Tiziano, Ditschkowski, Markus, Gagelmann, Nico, Griesshammer, Martin, Gupta, Vikas, Hamad, Nada, Harrison, Claire, Hernandez-Boluda, Juan Carlos, Koschmieder, Steffen, Jain, Tania, Mascarenhas, John, Mesa, Ruben, Popat, Uday R, Passamonti, Francesco, Polverelli, Nicola, Rambaldi, Alessandro, Robin, Marie, Salit, Rachel B, Schroeder, Thomas, Scott, Bart L, Tamari, Roni, Tefferi, Ayalew, Vannucchi, Alessandro M, McLornan, Donal P, and Barosi, Giovanni

Published
2024
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39. High-resolution Nanopore methylome-maps reveal random hyper-methylation at CpG-poor regions as driver of chemoresistance in leukemias

Author

Alberto Magi, Gianluca Mattei, Alessandra Mingrino, Chiara Caprioli, Chiara Ronchini, Gianmaria Frigè, Roberto Semeraro, Davide Bolognini, Alessandro Rambaldi, Anna Candoni, Emanuela Colombo, Luca Mazzarella, and Pier Giuseppe Pelicci

Subjects
Biology (General), QH301-705.5
Abstract

Abstract Aberrant DNA methylation at CpG dinucleotides is a cancer hallmark that is associated with the emergence of resistance to anti cancer treatment, though molecular mechanisms and biological significance remain elusive. Genome scale methylation maps by currently used methods are based on chemical modification of DNA and are best suited for analyses of methylation at CpG rich regions (CpG islands). We report the first high coverage whole-genome map in cancer using the long read nanopore technology, which allows simultaneous DNA-sequence and -methylation analyses on native DNA. We analyzed clonal epigenomic/genomic evolution in Acute Myeloid Leukemias (AMLs) at diagnosis and relapse, after chemotherapy. Long read sequencing coupled to a novel computational method allowed definition of differential methylation at unprecedented resolution, and showed that the relapse methylome is characterized by hypermethylation at both CpG islands and sparse CpGs regions. Most differentially methylated genes, however, were not differentially expressed nor enriched for chemoresistance genes. A small fraction of under-expressed and hyper-methylated genes at sparse CpGs, in the gene body, was significantly enriched in transcription factors (TFs). Remarkably, these few TFs supported large gene-regulatory networks including 50% of all differentially expressed genes in the relapsed AMLs and highly-enriched in chemoresistance genes. Notably, hypermethylated regions at sparse CpGs were poorly conserved in the relapsed AMLs, under-represented at their genomic positions and showed higher methylation entropy, as compared to CpG islands. Analyses of available datasets confirmed TF binding to their target genes and conservation of the same gene-regulatory networks in large patient cohorts. Relapsed AMLs carried few patient specific structural variants and DNA mutations, apparently not involved in drug resistance. Thus, drug resistance in AMLs can be mainly ascribed to the selection of random epigenetic alterations at sparse CpGs of a few transcription factors, which then induce reprogramming of the relapsing phenotype, independently of clonal genomic evolution.

Published
2023
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41. Comparative study of treosulfan plus Fludarabine (FT14) with busulfan plus Fludarabine (FB4) for acute myeloid leukemia in first or second complete remission: An analysis from the European Society for Blood and Marrow Transplantation (EBMT) Acute Leukemia Working Party (ALWP)

Author

Gavriilaki, Eleni, Labopin, Myriam, Sakellari, Ioanna, Salmenniemi, Urpu, Yakoub-Agha, Ibrahim, Potter, Victoria, Berceanu, Ana, Rambaldi, Alessandro, Hilgendorf, Inken, Kröger, Nicolaus, Mielke, Stephan, Zuckerman, Tsila, Sanz, Jaime, Busca, Alessandro, Ozdogu, Hakan, Anagnostopoulos, Achilles, Savani, Bipin, Giebel, Sebastian, Bazarbachi, Ali, Spyridonidis, Alexandros, Nagler, Arnon, and Mohty, Mohamad

Published
2022
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43. P361: HIGH REMISSION AND SURVIVAL RATE IN ADULTS WITH MINIMAL RESIDUAL DISEASE-POSITIVE OR RELAPSED/REFRACTORY B-CELL ACUTE LYMPHOBLASTIC LEUKAEMIA TREATED WITH BLINATUMOMAB IN ROUTINE CLINICAL PRACTICE

Author

Sabina Chiaretti, Sabine Blum, Thibaut Leguay, Marie Balsat, Cyril Salek, Nicola Fracchiolla, Alexandros Spyridonidis, Anita Rijneveld, Cristina Papayannidis, Sofia Ganzha, Reetabrata Bhattacharyya, Gerhard Zugmaier, Isabella Pezzani Grueter, Andreas Ochs, and Alessandro Rambaldi

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2023
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44. P1041: LEUKOCYTOSIS SELECTS A SUBGROUP OF LOW-RISK PV PATIENTS IN WHOM PHLEBOTOMY-ALONE MAY BE INSUFFICIENT

Author

Alessandra Carobbio, Alessandro Vannucchi, Valerio De Stefano, Arianna Ghirardi, Greta Carioli, Arianna Masciulli, Elena Rossi, Fabio Ciceri, Massimiliano Bonifacio, Alessandra Iurlo, Francesca Palandri, Giulia Benevolo, Fabrizio Pane, Alessandra Ricco, Giuseppe Carli, Marianna Caramella, Davide Rapezzi, Caterina Musolino, Sergio Siragusa, Elisa Rumi, Andrea Patriarca, Nicola Cascavilla, Barbara Mora, Emma Cacciola, Carmela Mannarelli, Giuseppe Gaetano Loscocco, Paola Guglielmelli, Francesca Gesullo, Silvia Betti, Francesca Lunghi, Luigi Scaffidi, Cristina Bucelli, Nicola Vianelli, Marta Bellini, Maria Chiara Finazzi, Gianni Tognoni, Alessandro Rambaldi, and Tiziano Barbui

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2023
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46. P1278: MEASURABLE RESIDUAL DISEASE ASSESSMENT IN THE PROSPECTIVE HAPLOMUD STUDY

Author

Isabell Arnhardt, Arnold Kloos, Nadine Kattre, Razif Gabdoulline, Alina Lasch, Yasmine Alwie, Nicolaus Kröger, Rudolf Trenschel, Matthias Stelljes, Matthias Eder, Wolfgang Bethge, Gesine Bug, Carlos Solano Vercet, Jaime Sanz, Fermin Sanchez-Guijo, Alessandro Rambaldi, Francesca Bonifazi, Francesca Patriarca, Marketa Šťastná Marková, Philipp Wohlfarth, Hildegard Greinix, Adrian Schwarzer, and Michael Heuser

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2023
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47. Survival expectation after thrombosis and overt-myelofibrosis in essential thrombocythemia and prefibrotic myelofibrosis: a multistate model approach

Author

Alessandra Carobbio, Alessandro Maria Vannucchi, Elisa Rumi, Valerio De Stefano, Alessandro Rambaldi, Giuseppe Carli, Maria Luigia Randi, Heinz Gisslinger, Francesco Passamonti, Juergen Thiele, Naseema Gangat, Ayalew Tefferi, and Tiziano Barbui

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published
2023
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48. Rapid immune reconstitution following the infusion of autologous, Blinatumomab Expanded T-cells (BET) in patients with B-cell indolent NHL or CLL

Author

Gritti, Giuseppe, Ferrari, Silvia, Lussana, Federico, Barbui, Anna Maria, Landi, Francesco, Rondi, Monica, Putelli, Alessandro, Ballardini, Francesco, Quaresmini, Giulia, Paganessi, Muriel, Pavoni, Chiara, Ghirardi, Arianna, Gotti, Elisa, Capelli, Chiara, Golay, Josée, Introna, Martino, and Rambaldi, Alessandro

Published
2024
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50. PTCy versus ATG as graft-versus-host disease prophylaxis in mismatched unrelated stem cell transplantation

Author

Penack, Olaf, Abouqateb, Mouad, Peczynski, Christophe, Boreland, William, Gülbas, Zafer, Gedde-Dahl, Tobias, Castilla-Llorente, Cristina, Kröger, Nicolaus, Eder, Mathias, Rambaldi, Alessandro, Bonifazi, Francesca, Blau, Igor Wolfgang, Stelljes, Matthias, Dreger, Peter, Moiseev, Ivan, Schoemans, Hélène, Koenecke, Christian, and Peric, Zinaida

Published
2024
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