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1. An expert consensus on prevention, diagnosis, and management of hemorrhagic cystitis in pediatric hematopoietic cell transplantation, on behalf of the Infectious Disease and Hematopoietic Cell Transplant Working groups of Italian Pediatric Hematology Oncology Association (AIEOP)

Author

Dell'Orso, G, Carlucci, M, Cesaro, S, Olcese, E, Balduzzi, A, Vendemini, F, Catti, M, Saglio, F, Compagno, F, Maximova, N, Rabusin, M, Menconi, M, Perruccio, K, Soncini, E, Tambaro, F, Tintori, V, Pagliara, D, Faraci, M, Dell'Orso G., Carlucci M., Cesaro S., Olcese E., Balduzzi A., Vendemini F., Catti M., Saglio F., Compagno F., Maximova N., Rabusin M., Menconi M. C., Perruccio K., Soncini E., Tambaro F. P., Tintori V., Pagliara D., Faraci M., Dell'Orso, G, Carlucci, M, Cesaro, S, Olcese, E, Balduzzi, A, Vendemini, F, Catti, M, Saglio, F, Compagno, F, Maximova, N, Rabusin, M, Menconi, M, Perruccio, K, Soncini, E, Tambaro, F, Tintori, V, Pagliara, D, Faraci, M, Dell'Orso G., Carlucci M., Cesaro S., Olcese E., Balduzzi A., Vendemini F., Catti M., Saglio F., Compagno F., Maximova N., Rabusin M., Menconi M. C., Perruccio K., Soncini E., Tambaro F. P., Tintori V., Pagliara D., and Faraci M.

Abstract

The optimal management of hemorrhagic cystitis (HC) in hematopoietic stem cell transplantation (HCT) is debated, both for early onset HC (EOHC) secondary to chemotherapy toxicity and BK Polyomavirus (BKPyV)-related HC, due to the lack of controlled trials, particularly referred to pediatric setting. Actually, clinical practice is mainly based on guidelines of the European Conference on Infections in Leukemia, 6th edition, which considers both adult and pediatric populations but concludes that, despite much progress in understanding the pathogenesis, epidemiology, and risk factors, this complication still represents a disabling unmet clinical need with limited prophylactic and therapeutic options. Additionally, the Guidelines of the American Society of Clinical Oncology define the management of chemotherapeutic toxicity independently from the patients’ population. A panel of experts belonging to the Hematopoietic Cell Transplant and Infectious Disease Working Group (WG) of Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP) developed a consensus to define the best practices in prevention, diagnosis, and management of HC in pediatric HCT setting.

Published
2024

3. GD2-CART01 for Relapsed or Refractory High-Risk Neuroblastoma

Author

Del Bufalo, F., De Angelis, B., Caruana, I., Del Baldo, G., De Ioris, M. A., Serra, A., Mastronuzzi, A., Cefalo, M. G., Pagliara, D., Amicucci, M., Li Pira, G., Leone, G., Bertaina, V., Sinibaldi, M., Di Cecca, S., Guercio, M., Abbaszadeh, Z., Iaffaldano, L., Gunetti, M., Iacovelli, S., Bugianesi, R., Macchia, S., Algeri, M., Merli, P., Galaverna, F., Abbas, R., Garganese, M. C., Villani, M. F., Colafati, G. S., Bonetti, F., Rabusin, M., Perruccio, K., Folsi, V., Quintarelli, C., Locatelli, Franco, Locatelli F. (ORCID:0000-0002-7976-3654), Del Bufalo, F., De Angelis, B., Caruana, I., Del Baldo, G., De Ioris, M. A., Serra, A., Mastronuzzi, A., Cefalo, M. G., Pagliara, D., Amicucci, M., Li Pira, G., Leone, G., Bertaina, V., Sinibaldi, M., Di Cecca, S., Guercio, M., Abbaszadeh, Z., Iaffaldano, L., Gunetti, M., Iacovelli, S., Bugianesi, R., Macchia, S., Algeri, M., Merli, P., Galaverna, F., Abbas, R., Garganese, M. C., Villani, M. F., Colafati, G. S., Bonetti, F., Rabusin, M., Perruccio, K., Folsi, V., Quintarelli, C., Locatelli, Franco, and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Immunotherapy with chimeric antigen receptor (CAR)-expressing T cells that target the disialoganglioside GD2 expressed on tumor cells may be a therapeutic option for patients with high-risk neuroblastoma. Methods: In an academic, phase 1-2 clinical trial, we enrolled patients (1 to 25 years of age) with relapsed or refractory, high-risk neuroblastoma in order to test autologous, third-generation GD2-CAR T cells expressing the inducible caspase 9 suicide gene (GD2-CART01). Results: A total of 27 children with heavily pretreated neuroblastoma (12 with refractory disease, 14 with relapsed disease, and 1 with a complete response at the end of first-line therapy) were enrolled and received GD2-CART01. No failure to generate GD2-CART01 was observed. Three dose levels were tested (3-, 6-, and 10×106 CAR-positive T cells per kilogram of body weight) in the phase 1 portion of the trial, and no dose-limiting toxic effects were recorded; the recommended dose for the phase 2 portion of the trial was 10×106 CAR-positive T cells per kilogram. Cytokine release syndrome occurred in 20 of 27 patients (74%) and was mild in 19 of 20 (95%). In 1 patient, the suicide gene was activated, with rapid elimination of GD2-CART01. GD2-targeted CAR T cells expanded in vivo and were detectable in peripheral blood in 26 of 27 patients up to 30 months after infusion (median persistence, 3 months; range, 1 to 30). Seventeen children had a response to the treatment (overall response, 63%); 9 patients had a complete response, and 8 had a partial response. Among the patients who received the recommended dose, the 3-year overall survival and event-free survival were 60% and 36%, respectively. Conclusions: The use of GD2-CART01 was feasible and safe in treating high-risk neuroblastoma. Treatment-related toxic effects developed, and the activation of the suicide gene controlled side effects. GD2-CART01 may have a sustained antitumor effect. (Funded by the Italian Medicines Agency and others

Published
2023

4. Off-label use of combined antiretroviral therapy, analysis of data collected by the Italian Register for HIV-1 infection in paediatrics in a large cohort of children

Author

Chiappini, E., Lisi, C., Giacomet, V., Erba, P., Bernardi, S., Zangari, P., Di Biagio, A., Taramasso, L., Giaquinto, C., Rampon, O., Gabiano, C., Garazzino, S., Tagliabue, C., Esposito, S., Bruzzese, E., Badolato, R., Zanaboni, D., Cellini, M., Dedoni, M., Mazza, A., Pession, A., Giannini, A. M., Salvini, F., Dodi, I., Carloni, I., Cazzato, S., Tovo, P. A., de Martino, M., Galli, L., Parigi, S., Orlandi, F., de Martino, A., Pinzani, R., Abbagnato, L., Ruggeri, M., Baldi, F., Faldella, G., Chiriaco, P., Dessi, C., Panto, M. G., Anastasio, E., Govoni, M. R., Bigi, M., Bondi, E., Borea, R., Cenderello, G., Tommasi, D., Nogare, E. R. D., Saitta, M., Felici, L., Consolini, R., Antonellini, A., Anzidei, G., Genovese, O., Catania, S., Natale, F., Olmeo, P., Cristiano, L., Portelli, V., Rabusin, M., Di Pietro, G. M., Fabrizio, L., Chiappini, Elena, Lisi, Catiuscia, Giacomet, Vania, Erba, Paola, Bernardi, Stefania, Zangari, Paola, Di Biagio, Antonio, Taramasso, Lucia, Giaquinto, Carlo, Rampon, Osvalda, Gabiano, Clara, Garazzino, Silvia, Tagliabue, Claudia, Esposito, Susanna, Bruzzese, Eugenia, Badolato, Raffaele, Zanaboni, Domenico, Cellini, Monica, Dedoni, Maurizio, Mazza, Antonio, Pession, Andrea, Giannini, Anna Maria, Salvini, Filippo, Dodi, Icilio, Carloni, Ine, Cazzato, Salvatore, Tovo, Pier Angelo, de Martino, Maurizio, and Galli, Luisa

Subjects
Register (sociolinguistics), Pediatrics, medicine.medical_specialty, HAART, Adolescent, Anti-HIV Agents, Off-label therapy, Human immunodeficiency virus (HIV), HIV Infections, Infectious and parasitic diseases, RC109-216, HIV-1 infection, medicine.disease_cause, Off-label use, Retrospective Studie, Antiretroviral Therapy, Highly Active, medicine, Humans, Highly Active, HIV Infection, Child, Children, Antiretroviral therapy, CD4 Lymphocyte Count, Off-Label Use, Retrospective Studies, Viral Load, HIV-1, business.industry, Research, Anti-HIV Agent, virus diseases, Large cohort, Infectious Diseases, business, Human
Abstract

Background Early start of highly active antiretroviral therapy (HAART) in perinatally HIV-1 infected children is the optimal strategy to prevent immunological and clinical deterioration. To date, according to EMA, only 35% of antiretroviral drugs are licenced in children Methods An observational retrospective study investigating the rate and the outcomes of off-label prescription of HAART was conducted on 225 perinatally HIV-1 infected children enrolled in the Italian Register for HIV Infection in Children and followed-up from 2001 to 2018. Results 22.2% (50/225) of included children were receiving an off-label HAART regimen at last check. Only 26% (13/50) of off-label children had an undetectable viral load (VL) before the commencing of the regimen and the 52.0% (26/50) had a CD4 + T lymphocyte percentage > 25%. At last check, during the off label regimen, the 80% (40/50) of patients had an undetectable VL, and 90% (45/50) of them displayed CD4 + T lymphocyte percentage > 25%. The most widely used off-label drugs were: dolutegravir/abacavir/lamivudine (16%; 8/50), emtricitbine/tenofovir disoproxil (22%; 11/50), lopinavir/ritonavir (20%; 10/50) and elvitegravir/cobicistat/emtricitabine/ tenofovir alafenamide (10%; 10/50). At logistic regression analysis, detectable VL before starting the current HAART regimen was a risk factor for receiving an off-label therapy (OR: 2.41; 95% CI 1.13–5.19; p = 0.024). Moreover, children Conclusion The prescription of an off-label HAART regimen in perinatally HIV-1 infected children was common, in particular in children with detectable VL despite previous HAART and in younger children, especially those receiving their first regimen. Our data suggest similar proportions of virological and immunological successes at last check among children receiving off-label or on-label HAART. Larger studies are needed to better clarify efficacy and safety of off-label HAART regimens in children, in order to allow the enlargement of on-label prescription in children.

Published
2022

6. Changes in Stem Cell Transplant activity and procedures during SARS-CoV2 pandemic in Italy: an Italian Bone Marrow Transplant Group (GITMO) nationwide analysis (TransCOVID-19 Survey)

Author

Russo, D, Polverelli, N, Malagola, M, Farina, M, Leoni, A, Bernardi, S, Mammoliti, S, Sacchi, N, Martino, M, Ciceri, F, Zallio, F, Olivieri, A, Falcioni, S, Storti, G, Michieli, M, Carluccio, P, Grassi, A, Oldani, E, Bonifazi, F, Prete, A, Cavattoni, I, Maffeis, M, Pastore, D, Vacca, A, Caravelli, D, Mirabile, M, Mordini, N, Nozzoli, C, Faraci, M, Federico, V, Ronconi, S, Skert, C, Onida, F, Marcatti, M, Piemontese, S, Narni, F, Balduzzi, A, De Simone, G, Picardi, A, De Gobbi, M, Calore, E, Tringali, S, Zecca, M, Secondino, S, Guiducci, B, Pelosini, M, Zuffa, E, Facchini, L, Imola, M, Iori, A, Proia, A, Sica, S, Armiento, D, Carella, A, Dellacasa, C, Fagioli, F, Rabusin, M, Ferrario, A, Elice, F, Russo D., Polverelli N., Malagola M., Farina M., Leoni A., Bernardi S., Mammoliti S., Sacchi N., Martino M., Ciceri F., Zallio F., Olivieri A., Falcioni S., Storti G., Michieli M., Carluccio P., Grassi A., Oldani E., Bonifazi F., Prete A., Cavattoni I. M., Maffeis M., Pastore D., Vacca A., Caravelli D., Mirabile M., Mordini N., Nozzoli C., Faraci M., Federico V., Ronconi S., Skert C., Onida F., Marcatti M., Piemontese S., Narni F., Balduzzi A., De Simone G., Picardi A., De Gobbi M., Calore E., Tringali S., Zecca M., Secondino S., Guiducci B., Pelosini M., Zuffa E., Facchini L., Imola M., Iori A. P., Proia A., Sica S., Armiento D., Carella A. M., Dellacasa C. M., Fagioli F., Rabusin M., Ferrario A., Elice F., Russo, D, Polverelli, N, Malagola, M, Farina, M, Leoni, A, Bernardi, S, Mammoliti, S, Sacchi, N, Martino, M, Ciceri, F, Zallio, F, Olivieri, A, Falcioni, S, Storti, G, Michieli, M, Carluccio, P, Grassi, A, Oldani, E, Bonifazi, F, Prete, A, Cavattoni, I, Maffeis, M, Pastore, D, Vacca, A, Caravelli, D, Mirabile, M, Mordini, N, Nozzoli, C, Faraci, M, Federico, V, Ronconi, S, Skert, C, Onida, F, Marcatti, M, Piemontese, S, Narni, F, Balduzzi, A, De Simone, G, Picardi, A, De Gobbi, M, Calore, E, Tringali, S, Zecca, M, Secondino, S, Guiducci, B, Pelosini, M, Zuffa, E, Facchini, L, Imola, M, Iori, A, Proia, A, Sica, S, Armiento, D, Carella, A, Dellacasa, C, Fagioli, F, Rabusin, M, Ferrario, A, Elice, F, Russo D., Polverelli N., Malagola M., Farina M., Leoni A., Bernardi S., Mammoliti S., Sacchi N., Martino M., Ciceri F., Zallio F., Olivieri A., Falcioni S., Storti G., Michieli M., Carluccio P., Grassi A., Oldani E., Bonifazi F., Prete A., Cavattoni I. M., Maffeis M., Pastore D., Vacca A., Caravelli D., Mirabile M., Mordini N., Nozzoli C., Faraci M., Federico V., Ronconi S., Skert C., Onida F., Marcatti M., Piemontese S., Narni F., Balduzzi A., De Simone G., Picardi A., De Gobbi M., Calore E., Tringali S., Zecca M., Secondino S., Guiducci B., Pelosini M., Zuffa E., Facchini L., Imola M., Iori A. P., Proia A., Sica S., Armiento D., Carella A. M., Dellacasa C. M., Fagioli F., Rabusin M., Ferrario A., and Elice F.

Abstract

The Transplant Centers belonging to Gruppo Italiano per il Trapianto di Midollo Osseo (GITMO) conducted a survey with the aim of evaluating the effect of SARS-CoV2 pandemic on the allogeneic transplant activity in Italy. The pandemic period from 1/3/2020 to 31/7/2020 was compared with the same period in 2019. Overall, in 2020 there was a 2.4% reduction in the number of allo-HCT cases compared to 2019. Interestingly, this deflection did not affect the acute leukemia cases (+5.7% in 2020). The use of peripheral blood-derived stem cells (+10.7%) and cryopreservation (97.4% of the centers) was highly adopted in 2020. Despite the sanitary emergency, almost all of the surveyed centers declared no impact of SARS-CoV2 pandemic on the transplant timing and outcomes, and the sanitary policy was positively evaluated by the majority of centers. The emergency measures ensured that only a minority of the allo-HCT patients had been infected by SARS-CoV2; however, a mortality of 42.1% among the allo-HCT patients hospitalized for COVID-19 was recorded. This survey gives us the information that the GITMO Group reacted positively to the pandemic. Thanks to the emergency strategies, the Italian allo-HCT activity continued safely, showing only a minor deflection and offering the same probability of cure to the transplanted patients.

Published
2021

7. Changes in Stem Cell Transplant activity and procedures during SARS-CoV2 pandemic in Italy: an Italian Bone Marrow Transplant Group (GITMO) nationwide analysis (TransCOVID-19 Survey)

Author

Russo D., Polverelli N., Malagola M., Farina M., Leoni A., Bernardi S., Mammoliti S., Sacchi N., Martino M., Ciceri F., Zallio F., Olivieri A., Falcioni S., Storti G., Michieli M., Carluccio P., Grassi A., Oldani E., Bonifazi F., Prete A., Cavattoni I. M., Maffeis M., Pastore D., Vacca A., Caravelli D., Mirabile M., Mordini N., Nozzoli C., Faraci M., Federico V., Ronconi S., Skert C., Onida F., Marcatti M., Piemontese S., Narni F., Balduzzi A., De Simone G., Picardi A., De Gobbi M., Calore E., Tringali S., Zecca M., Secondino S., Guiducci B., Pelosini M., Zuffa E., Facchini L., Imola M., Iori A. P., Proia A., Sica S., Armiento D., Carella A. M., Dellacasa C. M., Fagioli F., Rabusin M., Ferrario A., Elice F., Russo, D, Polverelli, N, Malagola, M, Farina, M, Leoni, A, Bernardi, S, Mammoliti, S, Sacchi, N, Martino, M, Ciceri, F, Zallio, F, Olivieri, A, Falcioni, S, Storti, G, Michieli, M, Carluccio, P, Grassi, A, Oldani, E, Bonifazi, F, Prete, A, Cavattoni, I, Maffeis, M, Pastore, D, Vacca, A, Caravelli, D, Mirabile, M, Mordini, N, Nozzoli, C, Faraci, M, Federico, V, Ronconi, S, Skert, C, Onida, F, Marcatti, M, Piemontese, S, Narni, F, Balduzzi, A, De Simone, G, Picardi, A, De Gobbi, M, Calore, E, Tringali, S, Zecca, M, Secondino, S, Guiducci, B, Pelosini, M, Zuffa, E, Facchini, L, Imola, M, Iori, A, Proia, A, Sica, S, Armiento, D, Carella, A, Dellacasa, C, Fagioli, F, Rabusin, M, Ferrario, A, Elice, F, Russo, D., Polverelli, N., Malagola, M., Farina, M., Leoni, A., Bernardi, S., Mammoliti, S., Sacchi, N., Martino, M., Ciceri, F., Zallio, F., Olivieri, A., Falcioni, S., Storti, G., Michieli, M., Carluccio, P., Grassi, A., Oldani, E., Bonifazi, F., Prete, A., Cavattoni, I. M., Maffeis, M., Pastore, D., Vacca, A., Caravelli, D., Mirabile, M., Mordini, N., Nozzoli, C., Faraci, M., Federico, V., Ronconi, S., Skert, C., Onida, F., Marcatti, M., Piemontese, S., Narni, F., Balduzzi, A., De Simone, G., Picardi, A., De Gobbi, M., Calore, E., Tringali, S., Zecca, M., Secondino, S., Guiducci, B., Pelosini, M., Zuffa, E., Facchini, L., Imola, M., Iori, A. P., Proia, A., Sica, S., Armiento, D., Carella, A. M., Dellacasa, C. M., Fagioli, F., Rabusin, M., Ferrario, A., and Elice, F.

Subjects
Homologous, Myeloid, medicine.medical_specialty, 2019-20 coronavirus outbreak, Bone marrow transplant, Coronavirus disease 2019 (COVID-19), Epidemiology, medicine.medical_treatment, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Hematopoietic stem cell transplantation, Acute, Humans, Italy, Pandemics, RNA, Viral, SARS-CoV-2, Stem Cell Transplantation, Transplantation, Homologous, COVID-19, Hematopoietic Stem Cell Transplantation, Leukemia, Myeloid, Acute, Article, hematopoietic stem cell transplantation, covid-19, pandemic, Internal medicine, Pandemic, medicine, Viral, Acute leukemia, Transplantation, Leukemia, business.industry, Hematology, Stem-cell research, RNA, Stem cell, business
Abstract

The Transplant Centers belonging to Gruppo Italiano per il Trapianto di Midollo Osseo (GITMO) conducted a survey with the aim of evaluating the effect of SARS-CoV2 pandemic on the allogeneic transplant activity in Italy. The pandemic period from 1/3/2020 to 31/7/2020 was compared with the same period in 2019. Overall, in 2020 there was a 2.4% reduction in the number of allo-HCT cases compared to 2019. Interestingly, this deflection did not affect the acute leukemia cases (+5.7% in 2020). The use of peripheral blood-derived stem cells (+10.7%) and cryopreservation (97.4% of the centers) was highly adopted in 2020. Despite the sanitary emergency, almost all of the surveyed centers declared no impact of SARS-CoV2 pandemic on the transplant timing and outcomes, and the sanitary policy was positively evaluated by the majority of centers. The emergency measures ensured that only a minority of the allo-HCT patients had been infected by SARS-CoV2; however, a mortality of 42.1% among the allo-HCT patients hospitalized for COVID-19 was recorded. This survey gives us the information that the GITMO Group reacted positively to the pandemic. Thanks to the emergency strategies, the Italian allo-HCT activity continued safely, showing only a minor deflection and offering the same probability of cure to the transplanted patients.

Published
2021

8. PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients

Author

Franca, R, Stocco, G, Favretto, D, Giurici, N, del Rizzo, I, Locatelli, F, Vinti, L, Biondi, A, Colombini, A, Fagioli, F, Barisone, E, Pelin, M, Martellossi, S, Ventura, A, Decorti, G, Rabusin, M, Franca R., Stocco G., Favretto D., Giurici N., del Rizzo I., Locatelli F., Vinti L., Biondi A., Colombini A., Fagioli F., Barisone E., Pelin M., Martellossi S., Ventura A., Decorti G., Rabusin M., Franca, R, Stocco, G, Favretto, D, Giurici, N, del Rizzo, I, Locatelli, F, Vinti, L, Biondi, A, Colombini, A, Fagioli, F, Barisone, E, Pelin, M, Martellossi, S, Ventura, A, Decorti, G, Rabusin, M, Franca R., Stocco G., Favretto D., Giurici N., del Rizzo I., Locatelli F., Vinti L., Biondi A., Colombini A., Fagioli F., Barisone E., Pelin M., Martellossi S., Ventura A., Decorti G., and Rabusin M.

Abstract

The aim of the study was to validate the impact of the single-nucleotide polymorphism rs2413739 (T > C) in the PACSIN2 gene on thiopurines pharmacological parameters and clinical response in an Italian cohort of pediatric patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD). In ALL, PACSIN2 rs2413739 T allele was associated with a significant reduction of TPMT activity in erythrocytes (p = 0.0094, linear mixed-effect model, multivariate analysis considering TPMT genotype) and increased severe gastrointestinal toxicity during consolidation therapy (p = 0.049). A similar trend was present also for severe hematological toxicity during maintenance. In IBD, no significant effect of rs2413739 could be found on TPMT activity, however azathioprine effectiveness was reduced in patients carrying the T allele (linear mixed effect, p = 0.0058). In PBMC from healthy donors, a positive correlation between PACSIN2 and TPMT protein concentration could be detected (linear mixed effect, p = 0.045). These results support the role of PACSIN2 polymorphism on TPMT activity and mercaptopurine adverse effects in patients with ALL. Further evidence on PBMC and pediatric patients with IBD supports an association between PACSIN2 variants, TPMT activity, and thiopurines effects, even if more studies are needed since some of these effects may be tissue specific.

Published
2020

9. Nationwide central diagnosis review for childhood solid tumors: From concept to realization of an Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) integrated project

Author

Spreafico, F, Quarello, P, Alaggio, R, Collini, P, Haupt, R, Mastronuzzi, A, Prete, A, Rabusin, M, Rizzari, C, Schumacher, F, Zecca, M, Pession, A, Fagioli, F, Spreafico F., Quarello P., Alaggio R., Collini P., Haupt R., Mastronuzzi A., Prete A., Rabusin M., Rizzari C., Schumacher F., Zecca M., Pession A., Fagioli F., Spreafico, F, Quarello, P, Alaggio, R, Collini, P, Haupt, R, Mastronuzzi, A, Prete, A, Rabusin, M, Rizzari, C, Schumacher, F, Zecca, M, Pession, A, Fagioli, F, Spreafico F., Quarello P., Alaggio R., Collini P., Haupt R., Mastronuzzi A., Prete A., Rabusin M., Rizzari C., Schumacher F., Zecca M., Pession A., and Fagioli F.

Published
2019

10. Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP)

Author

Zecca, M., Ferrari, A., Quarello, P., Rabusin, M., Balduzzi, A., Buldini, B., Rostagno, E., Prete, A., Favre, C., Massimino, M., Biondi, A., Porta, F., Biffi, A., Locatelli, Franco, Pession, A., Fagioli, F., Locatelli F. (ORCID:0000-0002-7976-3654), Zecca, M., Ferrari, A., Quarello, P., Rabusin, M., Balduzzi, A., Buldini, B., Rostagno, E., Prete, A., Favre, C., Massimino, M., Biondi, A., Porta, F., Biffi, A., Locatelli, Franco, Pession, A., Fagioli, F., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

This article reviews the primary goals and achievements of the Italian Association for Pediatric Hematology-Oncology (Associazione Italiana Ematologia Oncologia Pediatrica [AIEOP]), a national cooperative group that has been working for children and adolescents with cancer in Italy since 1975.

Published
2021

11. Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP)

Author

Zecca, M, Andrea, F, Paola, Q, Rabusin, M, Balduzzi, A, Buldini, B, Rostagno, E, Prete, A, Favre, C, Massimino, M, Biondi, A, Porta, F, Biffi, A, Locatelli, F, Pession, A, Fagioli, F, Zecca, Marco, Andrea, Ferrari, Paola, Quarello, Rabusin, Marco, Balduzzi, Adriana, Buldini, Barbara, Rostagno, Elena, Prete, Arcangelo, Favre, Claudio, Massimino, Maura, Biondi, Andrea, Porta, Fulvio, Biffi, Alessandra, Locatelli, Franco, Pession, Andrea, Fagioli, Franca, Zecca, M, Andrea, F, Paola, Q, Rabusin, M, Balduzzi, A, Buldini, B, Rostagno, E, Prete, A, Favre, C, Massimino, M, Biondi, A, Porta, F, Biffi, A, Locatelli, F, Pession, A, Fagioli, F, Zecca, Marco, Andrea, Ferrari, Paola, Quarello, Rabusin, Marco, Balduzzi, Adriana, Buldini, Barbara, Rostagno, Elena, Prete, Arcangelo, Favre, Claudio, Massimino, Maura, Biondi, Andrea, Porta, Fulvio, Biffi, Alessandra, Locatelli, Franco, Pession, Andrea, and Fagioli, Franca

Abstract

This article reviews the primary goals and achievements of the Italian Association for Pediatric Hematology-Oncology (Associazione Italiana Ematologia Oncologia Pediatrica [AIEOP]), a national cooperative group that has been working for children and adolescents with cancer in Italy since 1975.

Published
2021

14. PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients

Author

Franca, R., Stocco, G., Favretto, D., Giurici, N., del Rizzo, I., Locatelli, Franco, Vinti, L., Biondi, A., Colombini, A., Fagioli, F., Barisone, E., Pelin, M., Martellossi, S., Ventura, A., Decorti, G., Rabusin, M., Locatelli F. (ORCID:0000-0002-7976-3654), Franca, R., Stocco, G., Favretto, D., Giurici, N., del Rizzo, I., Locatelli, Franco, Vinti, L., Biondi, A., Colombini, A., Fagioli, F., Barisone, E., Pelin, M., Martellossi, S., Ventura, A., Decorti, G., Rabusin, M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

The aim of the study was to validate the impact of the single-nucleotide polymorphism rs2413739 (T > C) in the PACSIN2 gene on thiopurines pharmacological parameters and clinical response in an Italian cohort of pediatric patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD). In ALL, PACSIN2 rs2413739 T allele was associated with a significant reduction of TPMT activity in erythrocytes (p = 0.0094, linear mixed-effect model, multivariate analysis considering TPMT genotype) and increased severe gastrointestinal toxicity during consolidation therapy (p = 0.049). A similar trend was present also for severe hematological toxicity during maintenance. In IBD, no significant effect of rs2413739 could be found on TPMT activity, however azathioprine effectiveness was reduced in patients carrying the T allele (linear mixed effect, p = 0.0058). In PBMC from healthy donors, a positive correlation between PACSIN2 and TPMT protein concentration could be detected (linear mixed effect, p = 0.045). These results support the role of PACSIN2 polymorphism on TPMT activity and mercaptopurine adverse effects in patients with ALL. Further evidence on PBMC and pediatric patients with IBD supports an association between PACSIN2 variants, TPMT activity, and thiopurines effects, even if more studies are needed since some of these effects may be tissue specific.

Published
2020

17. Hematopoietic stem cell transplantation for multiple sclerosis: A retrospective multicenter study

Author

Fassas, A.S., Passweg, J. R., Anagnostopoulos, A., Kazis, A., Kozak, T., Havrdova, E., Carreras, E., Graus, F., Kashyap, A., Openshaw, H., Schipperus, M., Deconinck, E., Mancardi, G., Marmont, A., Hansz, J., Rabusin, M., Zuazu Nagore, F. J., Besalduch, J., Dentamaro, T., Fouillard, L., Hertenstein, B., La Nasa, G., Musso, M., Papineschi, F., Rowe, J. M., Saccardi, R., Steck, A., Kappos, L., Gratwohl, A., Tyndall, A., and for the Autoimmune Disease Working Party of the EBMT (European Group for Blood and Marrow Transplantation)

Published
2002
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27. Hematopoietic stem cell transplantation for isolated extramedullary relapse of acute lymphoblastic leukemia in children

Author

Gabelli, M., Zecca, M., Messina, C., Carraro, E., Buldini, B., Rovelli, A. M., Fagioli, F., Bertaina, A., Lanino, E., Favre, C., Rabusin, M., Prete, A., Ripaldi, M., Barberi, W., Porta, F., Caniglia, M., Santarone, S., D'Angelo, P., Basso, G., Locatelli, Franco, Locatelli F. (ORCID:0000-0002-7976-3654), Gabelli, M., Zecca, M., Messina, C., Carraro, E., Buldini, B., Rovelli, A. M., Fagioli, F., Bertaina, A., Lanino, E., Favre, C., Rabusin, M., Prete, A., Ripaldi, M., Barberi, W., Porta, F., Caniglia, M., Santarone, S., D'Angelo, P., Basso, G., Locatelli, Franco, and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Relapse of acute lymphoblastic leukemia (ALL) may occur in extramedullary sites, mainly central nervous system (CNS) and testis. Optimal post-remissional treatment for isolated extramedullary relapse (IEMR) is still controversial. We collected data of children treated with hematopoietic stem cell transplantation (HSCT) for ALL IEMR from 1990 to 2015 in Italy. Among 281 patients, 167 had a relapse confined to CNS, 73 to testis, 14 to mediastinum, and 27 to other organs. Ninety-seven patients underwent autologous HSCT, 79 received allogeneic HSCT from a matched family donor, 75 from a matched unrelated donor, and 30 from an HLA-haploidentical donor. The 10-year overall survival was 56% and was not influenced by gender, ALL blast immune-phenotype, age, site of relapse, duration of first remission, and type of HSCT. In multivariable analysis, the only prognostic factors were disease status at HSCT and year of transplantation. Patients transplanted in third or subsequent complete remission (CR) had a risk of death 2.3 times greater than those in CR2. Children treated after 2000 had half the risk of death than those treated before that year. Our results suggest that both autologous and allogeneic HSCT may be considered for the treatment of pediatric ALL IEMR after the achievement of CR2.

Published
2019

28. Late mortality and causes of death among 5-year survivors of childhood cancer diagnosed in the period 1960–1999 and registered in the Italian Off-Therapy Registry

Author

Bagnasco, F., Caruso, S., Andreano, A., Valsecchi, M. G., Jankovic, M., Biondi, A., Miligi, L., Casella, C., Terenziani, M., Massimino, M., Sacerdote, C., Morsellino, V., Erminio, G., Garaventa, A., Faraci, M., Micalizzi, C., Garre, M. L., Pillon, M., Basso, G., Biasin, E., Fagioli, F., Rondelli, R., Pession, A., Locatelli, Franco, Santoro, N., Indolfi, P., Palumbo, G., Russo, G., Verzegnassi, F., Favre, C., Zecca, M., Mura, R., D'Angelo, P., Cano, C., Byrne, J., Haupt, R., Pierani, P., Porta, F., Consarino, C., Burnelli, R., Fedeli, F., Cellini, M., Casale, F., Menna, G., Bertolini, P., Caniglia, M., Cecinati, V., Casazza, G., Foa, R., Clerico, A., Ladogana, S., Galimberti, D., Rabusin, M., Nespoli, L., Cesaro, S., Locatelli F. (ORCID:0000-0002-7976-3654), Bagnasco, F., Caruso, S., Andreano, A., Valsecchi, M. G., Jankovic, M., Biondi, A., Miligi, L., Casella, C., Terenziani, M., Massimino, M., Sacerdote, C., Morsellino, V., Erminio, G., Garaventa, A., Faraci, M., Micalizzi, C., Garre, M. L., Pillon, M., Basso, G., Biasin, E., Fagioli, F., Rondelli, R., Pession, A., Locatelli, Franco, Santoro, N., Indolfi, P., Palumbo, G., Russo, G., Verzegnassi, F., Favre, C., Zecca, M., Mura, R., D'Angelo, P., Cano, C., Byrne, J., Haupt, R., Pierani, P., Porta, F., Consarino, C., Burnelli, R., Fedeli, F., Cellini, M., Casale, F., Menna, G., Bertolini, P., Caniglia, M., Cecinati, V., Casazza, G., Foa, R., Clerico, A., Ladogana, S., Galimberti, D., Rabusin, M., Nespoli, L., Cesaro, S., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Introduction: Advances in paediatric oncology led to the increase in long-term survival, revealing the burden of therapy-related long-term side effects. We evaluated overall and cause-specific mortality in a large cohort of Italian childhood cancer survivors (CCSs) and adolescent cancer survivors identified through the off-therapy registry. Materials and methods: CCSs alive 5 years after cancer diagnosis occurring between 1960 and 1999 were eligible; the last follow-up was between 2011 and 2014. Outcomes were reported as standardised mortality ratios (SMRs) and absolute excess risks (AERs). Results: Among 12,214 CCSs, 1113 (9.1%) deaths occurred. Survival at 35 years since diagnosis was 87% (95% confidence interval [CI]: 86–88) and at 45 years was 81% (95% CI: 77–84). CCSs had an 11-fold increased risk of death (SMR 95% CI: 10.7–12), corresponding to an AER of 48 (95% CI: 45–51). Mortality decreased by 60% for survivors treated most recently (1990–1999). The most frequent causes of death were recurrence of the original cancer (56%), a subsequent neoplasm (19%) and cardiovascular diseases (5.8%). Among those who survived at least 15 years after diagnosis, a secondary malignancy was the leading cause of death. Conclusions: This study confirms the impact of recent advances in anticancer therapy in reducing mortality, mainly attributable to recurrence but also to other causes. However, overall mortality continues to be higher than in the general population. A long-term follow-up is needed to prevent late mortality due to secondary neoplasms and non-neoplastic causes in CCSs.

Published
2019

29. Late mortality and causes of death among 5-year survivors of childhood cancer diagnosed in the period 1960–1999 and registered in the Italian Off-Therapy Registry

Author

Bagnasco, F, Caruso, S, Andreano, A, Valsecchi, M, Jankovic, M, Biondi, A, Miligi, L, Casella, C, Terenziani, M, Massimino, M, Sacerdote, C, Morsellino, V, Erminio, G, Garaventa, A, Faraci, M, Micalizzi, C, Garrè, M, Pillon, M, Basso, G, Biasin, E, Fagioli, F, Rondelli, R, Pession, A, Locatelli, F, Santoro, N, Indolfi, P, Palumbo, G, Russo, G, Verzegnassi, F, Favre, C, Zecca, M, Mura, R, D'Angelo, P, Cano, C, Byrne, J, Haupt, R, Pierani, P, Porta, F, Consarino, C, Burnelli, R, Fedeli, F, Cellini, M, Casale, F, Menna, G, Bertolini, P, Caniglia, M, Cecinati, V, Casazza, G, Foà, R, Clerico, A, Ladogana, S, Galimberti, D, Rabusin, M, Nespoli, L, Cesaro, S, Bagnasco, Francesca, Caruso, Silvia, Andreano, Anita, Valsecchi, Maria Grazia, Jankovic, Momcilo, Biondi, Andrea, Miligi, Lucia, Casella, Claudia, Terenziani, Monica, Massimino, Maura, Sacerdote, Carlotta, Morsellino, Vera, Erminio, Giovanni, Garaventa, Alberto, Faraci, Maura, Micalizzi, Concetta, Garrè, Maria Luisa, Pillon, Marta, Basso, Giuseppe, Biasin, Eleonora, Fagioli, Franca, Rondelli, Roberto, Pession, Andrea, Locatelli, Franco, Santoro, Nicola, Indolfi, Paolo, Palumbo, Giovanna, Russo, Giovanna, Verzegnassi, Federico, Favre, Claudio, Zecca, Marco, Mura, Rossella, D'Angelo, Paolo, Cano, Carmen, Byrne, Julianne, Haupt, Riccardo, Pierani, Paolo, Pession, Andreea, Porta, Fulvio, Consarino, Caterina, Burnelli, Roberta, Fedeli, Fausto, Cellini, Monica, Casale, Fiorina, Menna, Giuseppe, Bertolini, Patrizia, Caniglia, Maurizio, Cecinati, Valerio, Casazza, Gabriella, Foà, Roberto, Clerico, Anna, Ladogana, Saverio, Galimberti, Daniela, Rabusin, Marco, Nespoli, Luigi, Cesaro, Simone, Bagnasco, F, Caruso, S, Andreano, A, Valsecchi, M, Jankovic, M, Biondi, A, Miligi, L, Casella, C, Terenziani, M, Massimino, M, Sacerdote, C, Morsellino, V, Erminio, G, Garaventa, A, Faraci, M, Micalizzi, C, Garrè, M, Pillon, M, Basso, G, Biasin, E, Fagioli, F, Rondelli, R, Pession, A, Locatelli, F, Santoro, N, Indolfi, P, Palumbo, G, Russo, G, Verzegnassi, F, Favre, C, Zecca, M, Mura, R, D'Angelo, P, Cano, C, Byrne, J, Haupt, R, Pierani, P, Porta, F, Consarino, C, Burnelli, R, Fedeli, F, Cellini, M, Casale, F, Menna, G, Bertolini, P, Caniglia, M, Cecinati, V, Casazza, G, Foà, R, Clerico, A, Ladogana, S, Galimberti, D, Rabusin, M, Nespoli, L, Cesaro, S, Bagnasco, Francesca, Caruso, Silvia, Andreano, Anita, Valsecchi, Maria Grazia, Jankovic, Momcilo, Biondi, Andrea, Miligi, Lucia, Casella, Claudia, Terenziani, Monica, Massimino, Maura, Sacerdote, Carlotta, Morsellino, Vera, Erminio, Giovanni, Garaventa, Alberto, Faraci, Maura, Micalizzi, Concetta, Garrè, Maria Luisa, Pillon, Marta, Basso, Giuseppe, Biasin, Eleonora, Fagioli, Franca, Rondelli, Roberto, Pession, Andrea, Locatelli, Franco, Santoro, Nicola, Indolfi, Paolo, Palumbo, Giovanna, Russo, Giovanna, Verzegnassi, Federico, Favre, Claudio, Zecca, Marco, Mura, Rossella, D'Angelo, Paolo, Cano, Carmen, Byrne, Julianne, Haupt, Riccardo, Pierani, Paolo, Pession, Andreea, Porta, Fulvio, Consarino, Caterina, Burnelli, Roberta, Fedeli, Fausto, Cellini, Monica, Casale, Fiorina, Menna, Giuseppe, Bertolini, Patrizia, Caniglia, Maurizio, Cecinati, Valerio, Casazza, Gabriella, Foà, Roberto, Clerico, Anna, Ladogana, Saverio, Galimberti, Daniela, Rabusin, Marco, Nespoli, Luigi, and Cesaro, Simone

Abstract

Introduction: Advances in paediatric oncology led to the increase in long-term survival, revealing the burden of therapy-related long-term side effects. We evaluated overall and cause-specific mortality in a large cohort of Italian childhood cancer survivors (CCSs) and adolescent cancer survivors identified through the off-therapy registry. Materials and methods: CCSs alive 5 years after cancer diagnosis occurring between 1960 and 1999 were eligible; the last follow-up was between 2011 and 2014. Outcomes were reported as standardised mortality ratios (SMRs) and absolute excess risks (AERs). Results: Among 12,214 CCSs, 1113 (9.1%) deaths occurred. Survival at 35 years since diagnosis was 87% (95% confidence interval [CI]: 86–88) and at 45 years was 81% (95% CI: 77–84). CCSs had an 11-fold increased risk of death (SMR 95% CI: 10.7–12), corresponding to an AER of 48 (95% CI: 45–51). Mortality decreased by 60% for survivors treated most recently (1990–1999). The most frequent causes of death were recurrence of the original cancer (56%), a subsequent neoplasm (19%) and cardiovascular diseases (5.8%). Among those who survived at least 15 years after diagnosis, a secondary malignancy was the leading cause of death. Conclusions: This study confirms the impact of recent advances in anticancer therapy in reducing mortality, mainly attributable to recurrence but also to other causes. However, overall mortality continues to be higher than in the general population. A long-term follow-up is needed to prevent late mortality due to secondary neoplasms and non-neoplastic causes in CCSs.

Published
2019

30. Haematopoetic stem cell transplantation for refractory autoimmune cytopenia

Author

Passweg, J. R., Rabusin, M., Musso, M., Beguin, Y., Cesaro, S., Ehninger, G., Espigado, I., Iriondo, A., Jost, L., Koza, V., Lenhoff, S., Lisukov, I., Locatelli, F., Marmont, A., Philippe, P., Pilatrino, C., Quartier, P., Stary, J., Veys, P., Vormoor, J., Wahlin, A., Zintl, F., Bocelli-Tyndall, C., Tyndall, A., and Gratwohl, A.

Published
2004

32. Il neuroblastoma 4s. Caratteristiche alla presentazione, trattamento e out come di 268 pazienti registrati nel RINB

Author

Massirio, P., Gigliotti, A. R., Erminio, G., Haupt, R., Tirtei, E., Podda, M., Provenzi, F. Bonetti4 M., D’Ippolito, C., Viscardi, E., Cesaro, S., Rabusin, M., Bertolini, P., Cellini, M., Burnelli, R., Melchionda, F., Tondo, A., Castellano, A., Mastrangelo, S., Pierani, P., Fagnani, A. M., Cecinati, V., Ruotolo, S., Pota, E., De-Leonardis, F., Miglionico, L., Di-Cataldo, A., D’Angelo, P., Nonnis, A., and B. De-Bernardi.

Subjects
tumore pediatrico, neuroblastoma, classificazione, neuroblastoma, tumore pediatrico, classificazione
Published
2018

33. Diet by Proxy

Author

RUSSIAN, S., RABUSIN, M., and LONGO, G.

Published
1996

35. Unrelated donor vs HLA-haploidentical a/b T-cell– and B-cell–depleted HSCT in children with acute leukemia

Author

Bertaina, A., Zecca, M., Buldini, B., Sacchi, N., Algeri, M., Saglio, F., Perotti, C., Gallina, A. M., Bertaina, V., Lanino, E., Prete, A., Barberi, W., Tumino, M., Favre, C., Cesaro, S., Bufalo, F. D., Ripaldi, M., Boghen, S., Casazza, G., Rabusin, M., Balduzzi, A., Fagioli, F., Pagliara, D., Locatelli, Franco, Locatelli F. (ORCID:0000-0002-7976-3654), Bertaina, A., Zecca, M., Buldini, B., Sacchi, N., Algeri, M., Saglio, F., Perotti, C., Gallina, A. M., Bertaina, V., Lanino, E., Prete, A., Barberi, W., Tumino, M., Favre, C., Cesaro, S., Bufalo, F. D., Ripaldi, M., Boghen, S., Casazza, G., Rabusin, M., Balduzzi, A., Fagioli, F., Pagliara, D., Locatelli, Franco, and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Traditionally, hematopoietic stem cell transplantation (HSCT) from both HLA-matched related and unrelated donors (UD) has been used for treating children with acute leukemia (AL) in need of an allograft. Recently, HLA-haploidentical HSCT after ab T-cell/B-cell depletion (abhaplo-HSCT) was shown to be effective in single-center studies. Here, we report the first multicenter retrospective analysis of 127 matched UD (MUD), 118 mismatched UD (MMUD), and 98 abhaplo-HSCT recipients, transplanted between 2010 and 2015, in 13 Italian centers. All these AL children were transplanted in morphological remission after a myeloablative conditioning regimen. Graft failure occurred in 2% each of UD-HSCT and abhaplo-HSCT groups. In MUD vs MMUD-HSCT recipients, the cumulative incidence of grade II to IV and grade III to IV acute graft-versus-host disease (GVHD) was 35% vs 44% and 6% vs 18%, respectively, compared with 16% and 0% in abhaplo-HSCT recipients (P < .001). Children treated with abhaplo-HSCT also had a significantly lower incidence of overall and extensive chronic GVHD (P < .01). Eight (6%) MUD, 32 (28%) MMUD, and 9 (9%) abhaplo-HSCT patients died of transplant-related complications. With a median follow-up of 3.3 years, the 5-year probability of leukemia-free survival in the 3 groups was 67%, 55%, and 62%, respectively. In the 3 groups, chronic GVHD-free/relapse-free (GRFS) probability of survival was 61%, 34%, and 58%, respectively (P < .001). When compared with patients given MMUD-HSCT, abhaplo-HSCT recipients had a lower cumulative incidence of nonrelapse mortality and a better GRFS (P < .001). These data indicate that abhaplo-HSCT is a suitable therapeutic option for children with AL in need of transplantation, especially when an allele-matched UD is not available.

Published
2018

36. Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy

Author

Messina, C., Zecca, M., Fagioli, F., Rovelli, A., Giardino, S., Merli, P., Porta, F., Arico, M., Sieni, E., Basso, G., Ripaldi, M., Favre, C., Pillon, M., Marzollo, A., Rabusin, M., Cesaro, S., Algeri, M., Caniglia, M., Di Bartolomeo, P., Ziino, O., Saglio, F., Prete, A., Locatelli, Franco, Locatelli F. (ORCID:0000-0002-7976-3654), Messina, C., Zecca, M., Fagioli, F., Rovelli, A., Giardino, S., Merli, P., Porta, F., Arico, M., Sieni, E., Basso, G., Ripaldi, M., Favre, C., Pillon, M., Marzollo, A., Rabusin, M., Cesaro, S., Algeri, M., Caniglia, M., Di Bartolomeo, P., Ziino, O., Saglio, F., Prete, A., Locatelli, Franco, and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

We report on 109 patients with hemophagocytic lymphohistiocytosis (HLH) undergoing 126 procedures of allogeneic hematopoietic stem cell transplantation (HSCT) between 2000 and 2014 in centers associated with the Italian Pediatric Hematology Oncology Association. Genetic diagnosis was FHL2 (32%), FHL3 (33%), or other defined disorders known to cause HLH (15%); in the remaining patients no genetic abnormality was found. Donor for first transplant was an HLA-matched sibling for 25 patients (23%), an unrelated donor for 73 (67%), and an HLA-partially matched family donor for 11 children (10%). Conditioning regimen was busulfan-based for 61 patients (56%), treosulfan-based for 21 (20%), and fludarabine-based for 26 children (24%). The 5-year probabilities of overall survival (OS) and event-free survival (EFS) were 71% and 60%, respectively. Twenty-six patients (24%) died due to transplant-related causes, whereas 14 (13%) and 10 (9%) patients experienced graft rejection and/or relapse, respectively. Twelve of 14 children given a second HSCT after graft failure/relapse are alive and disease-free. Use of HLA-partially matched family donors was associated with higher risk of graft failure and thus with lower EFS (but not with lower OS) in multivariable analysis. Active disease at transplantation did not significantly affect prognosis. These data confirm that HSCT can cure most HLH patients, active disease not precluding successful transplantation. Because in HLH patients HLA-haploidentical HSCT performed through CD34 + cell positive selection was found to be associated with poor sustained engraftment of donor cells, innovative approaches able to guarantee a more robust engraftment are warranted in patients given this type of allograft.

Published
2018

37. Use of zidovudine-sparing HAART in pregnant HIV-infected women in Europe: 2000-2009

Author

Tariq, S, Townsend, Cl, Cortina Borja, M, Duong, T, Elford, J, Thorne, C, Tookey, Pa, Giaquinto, C, Rampon, O, Mazza, A, De Rossi, A, Grosch Wörner, I, Mok, J, de José MI, Larrú Martínez, B, Scherpbier, Hj, Kreyenbroek, M, Godfried, Mh, Nellen, Fj, Boer, K, Navér, L, Anzén, B, Lidman, K, Levy, J, Barlow, P, Manigart, Y, Hainaut, M, Goetghebuer, T, Brichard, B, De Camps, J, Thiry, N, Deboone, G, Waterloos, H, De Maria, A, Mûr, A, Payà, A, López Vilchez MA, Carreras, R, Valerius, Nh, Rosenfeldt, V, Coll, O, Suy, A, Perez, Jm, Fortuny, C, Boguña, J, Savasi, V, Viganò, A, Giacomet, V, Cerini, C, Raimondi, C, Zuccotti, G, Alberico, S, Rabusin, M, Bernardon, M, Buffolano, W, Tiseo, R, Martinelli, P, Sansone, M, Maruotti, G, Agangi, A, Tibaldi, C, Marini, S, Masuelli, G, Benedetto, Chiara, Niemieç, T, Marczynska, M, Dobosz, S, Popielska, J, Oldakowska, A, Masters, J, Haile Selassie, H, French, C, Shakes, I., National Study of HIV in Pregnancy Childhood, National Study of HIV in Pregnancy, Childhood, Martinelli, Pasquale, Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology, General Internal Medicine, Infectious diseases, Other Research, Obstetrics and Gynaecology, Tariq, S, Townsend, Cl, Cortina Borja, M, Duong, T, Elford, J, Thorne, C, Tookey, Pa, European Collaborative, Study, Giaquinto C, National Study of HIV in Pregnancy C. h. i. l. d. h. o. o. d., Rampon, O, Mazza, A, De Rossi, A, Grosch Wörner, I, Mok, J, de José, Mi, Larrú Martínez, B, Scherpbier, Hj, Kreyenbroek, M, Godfried, Mh, Nellen, Fj, Boer, K, Navér, L, Anzén, B, Lidman, K, Levy, J, Barlow, P, Manigart, Y, Hainaut, M, Goetghebuer, T, Brichard, B, De Camps, J, Thiry, N, Deboone, G, Waterloos, H, De Maria, A, Mûr, A, Payà, A, López Vilchez, Ma, Carreras, R, Valerius, Nh, Rosenfeldt, V, Coll, O, Suy, A, Perez, Jm, Fortuny, C, Boguña, J, Savasi, V, Viganò, A, Giacomet, V, Cerini, C, Raimondi, C, Zuccotti, G, Alberico, S, Rabusin, M, Bernardon, M, Buffolano, Wilma, Tiseo, R, Martinelli, P, Sansone, M, Maruotti, G, Agangi, A, Tibaldi, C, Marini, S, Masuelli, G, Benedetto, C, Niemieç, T, Marczynska, M, Dobosz, S, Popielska, J, Oldakowska, A, Masters, J, Haile Selassie, H, French, C, and Shakes, I.

Subjects
Adult, Pediatrics, medicine.medical_specialty, Time Factors, HAART, Anti-HIV Agents, HIV Infections, antiretroviral agents, highly active antiretroviral therapy, HIV, pregnancy outcome, viral load, congenital abnormalities, Article, Zidovudine, ANTIRETROVIRAL AGENTS, immune system diseases, Hiv infected, Antiretroviral Therapy, Highly Active, Medicine, Humans, Pharmacology (medical), Pregnancy Complications, Infectious, antiretroviral agents, highly active antiretroviral therapy, HIV, pregnancy outcome, viral load, Pregnancy outcomes, Retrospective Studies, Pregnancy, integumentary system, business.industry, Infant, virus diseases, Retrospective cohort study, medicine.disease, Infectious Disease Transmission, Vertical, CD4 Lymphocyte Count, zidovudine, Europe, Infectious Diseases, In utero, Immunology, Female, pregnancy, business, Viral load, medicine.drug
Abstract

Increasing numbers of women in resource-rich settings are prescribed zidovudine (ZDV)-sparing highly active antiretroviral therapy (HAART) in pregnancy. We compare ZDV-sparing with ZDV-containing HAART in relation to maternal viral load at delivery, mother-to-child transmission (MTCT) of HIV, and congenital abnormality. This is an analysis of data from the National Study of HIV in Pregnancy and Childhood and the European Collaborative Study. Data on 7573 singleton births to diagnosed HIV-infected women between January 2000 and June 2009 were analyzed. Logistic regression models were fitted to estimate adjusted odds ratios (AORs). Overall, 15.8% (1199 of 7573) of women received ZDV-sparing HAART, with increasing use between 2000 and 2009 (P

Published
2011

38. Trapianto di midollo osseo allogeneico da donatore HLA-aploidentico con deplezione negativa di linfociti T-alfa/beta o da donatore non consaguineo: confronto tra 2 approcci nella popolazione pediatrica

Author

Galaverna, F., Zecca, M., Algeri, M., Saglio, F., Perotti, C., Rovelli, A., Lanino, E., Prete, A., Iori, A. P., Tumino, M., Favre, C., Cesaro, S., Ripaldi, M., Casazza, G., Rabusin, M., Del Bufalo, F., Fagioli, F., Bertaina, A., and Locatelli, F.

Subjects
aploidentico, trapianto di cellule staminali emopoietiche, aploidentico, donatore volontario, donatore volontario, trapianto di cellule staminali emopoietiche
Published
2017

39. Combined antiretroviral therapy reduces hyperimmunoglobulinemia in HIV-1 infected children

Author

Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, DI BARI, DANIELA COLOMBA, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, CAVALLINI, RAFFAELLA, D'ANASTASIO, ELISABETTA, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, CECCHI, MARIA TERESA, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, PINZANI, ROBERTO, VIGANO', ALDO, Giacomet, V, Bianchi, R, SALVINI, FRANCESCO, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, DE MARCO, GIUSEPPINA, Tarallo, L, TANCREDI, FERNANDO ANTONIO, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, SANFILIPPO, ALESSIA, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, PALMA, PASQUALE, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, Molesini, M, Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, Di Bari, C, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, Cavallini, R, Anastasio, E, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, Cecchi, MT, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, Pinzani, R, Vigano, A, Giacomet, V, Bianchi, R, Salvini, F, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, De Marco, G, Tarallo, L, Tancredi, F, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, Sanfilippo, A, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, Palma, P, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, and Molesini, M

Subjects
Adult, medicine.medical_specialty, Adolescent, immunogiobulins, Immunology, immunoglobulins, combined antiretroviral therapy, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Gastroenterology, children, Hypergammaglobulinemia, Internal medicine, medicine, Humans, Immunology and Allergy, Child, Therapeutic regimen, biology, business.industry, Immunoglobulins, Intravenous, Infant, Normal population, hiv-1 infection, Settore MED/38, Antiretroviral therapy, HIV Reverse Transcriptase, Infectious Diseases, Child, Preschool, Intravenous IG, HIV-1, biology.protein, HIV-1 infection, Drug Evaluation, Reverse Transcriptase Inhibitors, Drug Therapy, Combination, Antibody, business, Viral load
Abstract

Objective: To evaluate the effect of combined antiretroviral therapy on serum immunoglobulin (Ig) levels in HIV-1 perinatally infected children.Methods: Data from 1250 children recorded by the Italian Register for HIV Infection in Children from 1985 to 2002 were analysed. Since Ig levels physiologically vary with age, differences at different age periods were evaluated as differences in z-scores calculated using means and standard deviations of normal population for each age period. Combined antiretroviral therapy has become widespread in Italy since 1996, thus differences in Ig z-scores between the periods 1985-1995 and 1996-2002 were analysed. Data according to type of therapeutic regimen were also analysed.Results: Between the two periods 1985-1995 and 1996-2002, significant (P < 0.0001) decreases in IgG (6.29 +/- 4.72 versus 4.44 +/- 4.33), IgM (9.25 +/- 13.32 versus 5.61 +/- 7.93), and IgA (10.25 +/- 15.68 versus 6.48 +/- 11.56) z-scores, together with a parallel significant (P < 0.0001) increase in CD4 T-lymphocyte percentages, were found. These decreases were confirmed regardless of whether the children were receiving intravenous Ig or not. Ig z-scores were significantly higher in children receiving mono-therapy than in those receiving double-combined therapy (IgG, P < 0.0001; IgM, P = 0.003; IgA, P = 0.031) and in the latter children than in those receiving three or more drugs (P < 0.0001 for all z-scores). Ig z-scores correlated inversely with CD4 T lymphocyte percentages and, directly, with viral loads.Conclusions: Our data show that in HIV-1 infected children combined antiretroviral therapy leads to reduction of hyperimmunoglobulinemia which parallels restoration of CD4 T-lymphocyte percentage and viral load decrease, which it turn probably reflects improved B-lymphocyte functions.(C) 2004 Lippincott Williams Wilkins.

Published
2004

40. Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol

Author

Franca, R., Rebora, P., Bertorello, N., Fagioli, F., Conter, V., Biondi, A., Colombini, A., Micalizzi, C., Zecca, M., Parasole, R., Petruzziello, F., Basso, G., Putti, M. C., Locatelli, Franco, D'Adamo, P., Valsecchi, M. G., Decorti, G., Rabusin, M., Locatelli F. (ORCID:0000-0002-7976-3654), Franca, R., Rebora, P., Bertorello, N., Fagioli, F., Conter, V., Biondi, A., Colombini, A., Micalizzi, C., Zecca, M., Parasole, R., Petruzziello, F., Basso, G., Putti, M. C., Locatelli, Franco, D'Adamo, P., Valsecchi, M. G., Decorti, G., Rabusin, M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Drug-related toxicities represent an important clinical concern in chemotherapy, genetic variants could help tailoring treatment to patient. A pharmacogenetic multicentric study was performed on 508 pediatric acute lymphoblastic leukemia patients treated with AIEOP-BFM 2000 protocol: 28 variants were genotyped by VeraCode and Taqman technologies, deletions of GST-M1 and GST-T1 by multiplex PCR. Toxicities were derived from a central database: 251 patients (49.4%) experienced at least one gastrointestinal (GI) or hepatic (HEP) or neurological (NEU) grade III/IV episode during the remission induction phase: GI occurred in 63 patients (12.4%); HEP in 204 (40.2%) and NEU in 44 (8.7%). Logistic regression model adjusted for sex, risk and treatment phase revealed that ITPA rs1127354 homozygous mutated patients showed an increased risk of severe GI and NEU. ABCC1 rs246240 and ADORA2A rs2236624 homozygous mutated genotypes were associated to NEU and HEP, respectively. These three variants could be putative predictive markers for chemotherapy-related toxicities in AIEOP-BFM protocols.

Published
2017

41. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

43. Ruolo dei polimorfismi genetici sulla tossicità nella terapia della leucemia linfoblastica acuta in pazienti pediatrici

Author

Franca, R, Rebora, P, Cappelletti, S, Giarin, E, Crovella, S, Decorti, G, Basso, G, Valsecchi, M, Rabusin, M, Franca R, Cappelletti S, Giarin E, Crovella S, Decorti G, Basso G, Rabusin M., REBORA, PAOLA, VALSECCHI, MARIA GRAZIA, Franca, R, Rebora, P, Cappelletti, S, Giarin, E, Crovella, S, Decorti, G, Basso, G, Valsecchi, M, Rabusin, M, Franca R, Cappelletti S, Giarin E, Crovella S, Decorti G, Basso G, Rabusin M., REBORA, PAOLA, and VALSECCHI, MARIA GRAZIA

Published
2012

44. Glutathione S-Transferase homozygous deletions on relapse in childhood Acute Lymphoblastic Leukemia: a novel study design in a large Italian AIEOP cohort.

Author

Franca, R, Rebora, P, Basso, G, Biondi, A, Cazzaniga, G, Crovella, S, Decorti, G, Fagioli, F, Giarin, E, Locatelli, F, Poggi, V, Valsecchi, M, Rabusin, M, REBORA, PAOLA, BIONDI, ANDREA, VALSECCHI, MARIA GRAZIA, Rabusin, M., Franca, R, Rebora, P, Basso, G, Biondi, A, Cazzaniga, G, Crovella, S, Decorti, G, Fagioli, F, Giarin, E, Locatelli, F, Poggi, V, Valsecchi, M, Rabusin, M, REBORA, PAOLA, BIONDI, ANDREA, VALSECCHI, MARIA GRAZIA, and Rabusin, M.

Abstract

In the AIEOP-BFM 2000 trial, 15% of pediatric patients treated according to risk-adapted polychemotherapeutic regimens relapsed. The present study aimed to investigate the influence of GST‐M1 and GST‐T1 deletions on clinical outcome of children with acute lymphoblastic leukemia treated according to the AIEOP‐BFM ALL 2000 study protocol. Materials & methods: A novel-design, two-phase study was applied to select a subsample of 614 children to be genotyped for the deletions of GST genes. Cumulative incidence of relapse was then estimated by weighted Kaplan–Meier analysis, and the Cox model was applied to evaluate the effect of GST‐M1 and GST‐T1 isoenzyme deletions on relapse. Results: No overall effect was found, but the GST‐M1 deletion was associated with better clinical outcome within prednisone poor-responder patients (hazard ratio [HR]: 0.45; 95% CI: 0.23–0.91; p = 0.026), whereas the GST‐T1 deletion was associated with worse outcome in the standard-risk group (HR: 4.62; 95% CI: 1.04–20.6; p = 0.045) and within prednisone good responders (HR: 1.62; 95% CI: 1.02–2.58; p = 0.041). Conclusion: Our results show that GST‐M1 and GST‐T1 homozygous deletions have opposite correlation with relapse, the former being protective and the latter unfavourable in specific subsets of acute lymphoblastic leukemia patients

Published
2012

46. Antiretroviral use in Italian children with perinatal HIV infection over a 14-year period

Author

Chiappini E, Galli L, Tovo PA, Gabiano C, Lisi C, Giacomet V, Bernardi S, Esposito S, Rosso R, Giaquinto C, Badolato R, GUARINO, ALFREDO, Maccabruni A, Masi M, Cellini M, Salvini F, Di Bari C, Dedoni M, Dodi I, de Martino M, Osimani P, Cordiali R., Larovere D, De Serio G, Giannini AM, Quercia M., Ruggeri M., Miniaci A, Specchia F, Ciccia M, Faldella G, Baldi F, Lanari M. Ciccia M, Bertulli C, Sorlini A, Ricci F, Dessy C, Pintor M, Fenu ML, Cavallini R, Aliffi A, Anastasio E, Aloe M., Abbagnato L., Merlino S, Fiumana E, Burnelli R, Bonsignori F, Gervaso P, Sollai S., Viscoli C, Cosso D, Timitilli A, Amoretti M., Vigano` A, Zuccotti GV, Mameli C, Fabiano V, Coletto S, Nello F, Riva E, Bettiga C, Picciolli, Irene, Preti Valentina, Tagliaferri Laura, Lipreri R, Mancini L., Mariotti I, Manzotti E, Giubbarelli F., GIANNATTASIO, ANTONIETTA, LO VECCHIO, ANDREA, BRUZZESE, EUGENIA, Tarallo L, Buffolano W., Pennazzato M, Rampon O., Dalle Nogare ER, Sanfilippo A, Romano A, Saitta M, Bandello MA, Tchana I, Maccabruni A., Felici L., Verrotti M., Consolini R, Palla G, Magnani C., Palma P, Pontrelli G, Tchidjou K. H, Genovese O, Falconieri P, Casadei M, Valentini P, Casadei, Martino, Anzidei, Cerilli, Catania Ajissa, Castelli Gattinara G., Cristiano R, Labalestra G, Portelli V., Mazza A, Chiarello P, Garazzino S, Mignone F, Calitri C., Rabusin M, Verzegnassi F., Pellegatta A., Boscardini L, Fortunati P, Da Riol R., Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Giacomet, V, Bernardi, S, Esposito, S, Rosso, R, Giaquinto, C, Badolato, R, Guarino, Alfredo, Maccabruni, A, Masi, M, Cellini, M, Salvini, F, Di Bari, C, Dedoni, M, Dodi, I, de Martino, M, Osimani, P, Cordiali, R., Larovere, D, De Serio, G, Giannini, Am, Quercia, M., Ruggeri, M., Miniaci, A, Specchia, F, Ciccia, M, Faldella, G, Baldi, F, Lanari M., Ciccia M, Bertulli, C, Sorlini, A, Ricci, F, Dessy, C, Pintor, M, Fenu, Ml, Cavallini, R, Aliffi, A, Anastasio, E, Aloe, M., Abbagnato, L., Merlino, S, Fiumana, E, Burnelli, R, Bonsignori, F, Gervaso, P, Sollai, S., Viscoli, C, Cosso, D, Timitilli, A, Amoretti, M., Vigano`, A, Zuccotti, Gv, Mameli, C, Fabiano, V, Coletto, S, Nello, F, Riva, E, Bettiga, C, Picciolli, Irene, Preti, Valentina, Tagliaferri, Laura, Lipreri, R, Mancini, L., Mariotti, I, Manzotti, E, Giubbarelli, F., Giannattasio, Antonietta, LO VECCHIO, Andrea, Bruzzese, Eugenia, Tarallo, L, Buffolano, W., Pennazzato, M, Rampon, O., Dalle Nogare, Er, Sanfilippo, A, Romano, A, Saitta, M, Bandello, Ma, Tchana, I, Maccabruni, A., Felici, L., Verrotti, M., Consolini, R, Palla, G, Magnani, C., Palma, P, Pontrelli, G, Tchidjou, K. H., Genovese, O, Falconieri, P, Casadei, M, Valentini, P, Casadei, Martino, Anzidei, Cerilli, Catania, Ajissa, Castelli Gattinara, G., Cristiano, R, Labalestra, G, Portelli, V., Mazza, A, Chiarello, P, Garazzino, S, Mignone, F, Calitri, C., Rabusin, M, Verzegnassi, F., Pellegatta, A., Boscardini, L, Fortunati, P, and Da Riol, R.

Abstract

BACKGROUND: Information on the use of new antiretroviral drugs in children in the real setting of clinical fields is largely unknown. METHODS: Data from 2554 combined antiretroviral therapy (cART) regimens administered to 911 children enrolled in the Italian Register for HIV infection in children, between 1996 and 2009, were analysed. Factors potentially associated with undetectable viral load and immunological response to cART were explored by Cox regression analysis. RESULTS: Proportion of protease inhibitor (PI)-based regimens significantly decreased from 88.0% to 51.2% and 54.9%, while proportion on non-nucleoside reverse transcriptase inhibitor (NNRTI)-based regimens increased from 4.5% to 38.8% and 40.2% in 1996-1999, 2000-2004 and 2005-2009, respectively (p < 0.0001). Significant change in the use of each antiretroviral drug occurred over the time periods (p < 0.0001). Factors independently associated with virological and immunological success were as follows: later calendar periods, younger age at regimen (only for virological success) and higher CD4(+) T-lymphocyte percentage at baseline. Use of unboosted PI was associated with lower adjusted hazard ratio (aHR) of virological or immunological success with respect to NNRTI- and boosted PI-based regimens, with no difference among these two latter types. CONCLUSION: Use of new generation antiretroviral drugs in Italian HIV-infected children is increasing. No different viro-immunological outcomes between NNRTI- and boosted PI-based cART were observed

Published
2012

47. Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series

Author

Sieni E, Cetica V, Piccin A, Gherlinzoni F, Rabusin M, Attard L, Bosi A, Pende D, Moretta L, Aricò M., SASSO, Ferdinando Carlo, Sieni, E, Cetica, V, Piccin, A, Gherlinzoni, F, Sasso, Ferdinando Carlo, Rabusin, M, Attard, L, Bosi, A, Pende, D, Moretta, L, and Aricò, M.

Abstract

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with defective cytotoxic function. The age at onset is usually young and the natural course is rapidly fatal if untreated. A later onset of the disease has been sporadically reported even in adolescents and adults. We report the results of our retrospective data collection of all cases diagnosed with FHL at an age of 18 years or older and enrolled in the Italian Registry of HLH. All cases were diagnosed with FHL based on evidence of genetic defect in one FHL-related gene. A total of 11 patients were diagnosed with FHL. They were 9 males and 2 females, from 10 unrelated families; their age ranged between 18 and 43 years (median, 23 years). Family history was unremarkable in eight families at the time of the diagnosis. Their genetic diagnoses are: FHL2 (n = 6), FHL3 (n = 2), FHL5 (n = 1), XLP1 (n = 2). Clinical, molecular and functional data are described. These data confirm that FHL may present beyond the pediatric age and up to the fifth decade. FHL2 due to perforin defect is the most frequently reported subtype. Adult specialists should consider FHL in the differential diagnosis of patients with cytopenia and liver or central nervous system disorders, especially when a lymphoproliferative disease is suspected but eventually not confirmed. FHL may turn to be fatal within a short time course even in adults. This risk, together with the continuous improvement in the transplant technique, especially in the area of transplant from matched unrelated donor, resulting in reduced treatment related mortality, might suggest a wider use of SCT in this population. Current diagnostic approach allows prompt identification of patients by flow-cytometry screening, then confirmed by the genetic study, and treatment with chemoimmunotherapy followed by stem cell transplantation.

Published
2012

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