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26 results on '"Savi, Arianna"'

1. Evolution of transcriptomic profiles in relapsed inv(16) acute myeloid leukemia

Author

Travaglini, Serena, Silvestrini, Giorgia, Attardi, Enrico, Fanciulli, Maurizio, Scalera, Stefano, Antonelli, Silvia, Maurillo, Luca, Palmieri, Raffaele, Divona, Mariadomenica, Ciuffreda, Ludovica, Savi, Arianna, Paterno, Giovangiacinto, Ottone, Tiziana, Barbieri, Caterina, Maciejewski, Jaroslaw P., Gurnari, Carmelo, Ciliberto, Gennaro, and Voso, Maria Teresa

Published
2024
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2. Applicability of 2022 classifications of acute myeloid leukemia in the real-world setting

Author

Attardi, Enrico, Savi, Arianna, Borsellino, Beatrice, Piciocchi, Alfonso, Cipriani, Marta, Ottone, Tiziana, Fabiani, Emiliano, Divona, Mariadomenica, Travaglini, Serena, Pascale, Maria Rosaria, Awada, Hussein, Durmaz, Arda, Visconte, Valeria, Della Porta, Matteo Giovanni, Venditti, Adriano, Maciejewski, Jaroslaw P., Gurnari, Carmelo, and Voso, Maria Teresa

Published
2023
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4. Detection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.

Author

Cilloni, Daniela, Maffeo, Beatrice, Savi, Arianna, Danzero, Alice Costanza, Bonuomo, Valentina, and Fava, Carmen

Subjects
NUCLEOTIDE sequencing, MAST cells, GENE frequency, GENETIC mutation, MAST cell disease
Abstract

More than 90% of patients affected by mastocytosis are characterized by a somatic point mutation of KIT, which induces ligand-independent activation of the receptor and downstream signal triggering, ultimately leading to mast cell accumulation and survival. The most frequent mutation is KIT p.D816V, but other rarer mutations can also be found. These mutations often have a very low variant allele frequency (VAF), well below the sensitivity of common next-generation sequencing (NGS) methods used in routine diagnostic panels. Highly sensitive methods are developing for detecting mutations. This review summarizes the current indications on the recommended methods and on how to manage and interpret molecular data for the diagnosis and follow-up of patients with mastocytosis. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Characterization of a novel IDH2‐R159H mutation in acute myeloid leukaemia: Effects on cell metabolism and differentiation

Author

Nardozza, Anna Maria, primary, Guarnera, Luca, additional, Travaglini, Serena, additional, Ottone, Tiziana, additional, Divona, Mariadomenica, additional, De Bellis, Eleonora, additional, Savi, Arianna, additional, Banella, Cristina, additional, Noguera, Nelida Ines, additional, Di Fusco, Davide, additional, Monteleone, Ivan, additional, and Voso, Maria Teresa, additional

Published
2023
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6. P499: APPLICABILITY OF 2022 CLASSIFICATIONS OF ACUTE MYELOID LEUKEMIA IN THE REAL-WORLD SETTING

Author

Attardi, Enrico, primary, Savi, Arianna, additional, Borsellino, Beatrice, additional, Piciocchi, Alfonso, additional, Cipriani, Marta, additional, Ottone, Tiziana, additional, Fabiani, Emiliano, additional, Divona, Mariadomenica, additional, Travaglini, Serena, additional, Rosaria Pascale, Maria, additional, Durmaz, Arda, additional, Visconte, Valeria, additional, Giovanni Della Porta, Matteo, additional, Venditti, Adriano, additional, P Maciejewski, Jaroslaw, additional, Gurnari, Carmelo, additional, and Teresa Voso, Maria, additional

Published
2023
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7. Characterization of a novel IDH2‐R159H mutation in acute myeloid leukaemia: Effects on cell metabolism and differentiation.

Author

Nardozza, Anna Maria, Guarnera, Luca, Travaglini, Serena, Ottone, Tiziana, Divona, Mariadomenica, De Bellis, Eleonora, Savi, Arianna, Banella, Cristina, Noguera, Nelida Ines, Di Fusco, Davide, Monteleone, Ivan, and Voso, Maria Teresa

Subjects
ACUTE myeloid leukemia, CELL metabolism, CELL differentiation, GENETIC mutation, KREBS cycle
Abstract

This article, published in the British Journal of Haematology, discusses a novel IDH2-R159H mutation found in a patient with acute myeloid leukaemia (AML). The mutation was acquired during disease progression and had a significant impact on cell metabolism and differentiation. The study also explores the sensitivity of the mutation to enasidenib, an oral inhibitor of mutant IDH2. The findings suggest that the presence of the IDH2-R159H mutation, along with another mutation, may be associated with a negative outcome and reduced response to enasidenib. The authors emphasize the importance of retesting for molecular changes during the course of the disease. [Extracted from the article]

Published
2024
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8. Acute leukemia diagnosis during the COVID-19 pandemic

Author

GUARNERA, Luca, primary, BUZZATTI, Elisa, additional, MARCHESI, Francesco, additional, ARMIENTO, Daniele, additional, MAZZONE, Carla, additional, CAPRIA, Saveria, additional, SCALZULLI, Emilia, additional, MALFONA, Francesco, additional, CHIARETTI, Sabina, additional, PALMIERI, Raffaele, additional, PATERNO, Giovangiacinto, additional, FRANZESE, Chiara, additional, BONANNI, Fabrizio, additional, SAVI, Arianna, additional, PASQUALONE, Gianmario, additional, MORETTI, Federico, additional, MAURILLO, Luca, additional, BUCCISANO, Francesco, additional, VENDITTI, Adriano, additional, and DEL PRINCIPE, Maria Ilaria, additional

Published
2023
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10. FEVER OF UNKNOWN ORIGIN AND MULTIDRUG-RESISTANT ORGANISMS COLONIZATION IN AML PATIENTS.

Author

Guarnera, Luca, primary, Trotta, Gentiana Elena, additional, Boldrini, Valentina, additional, Cardillo, Lucia, additional, Cerroni, Ilaria, additional, Mezzanotte, Valeria, additional, Pasqualone, Gianmario, additional, Savi, Arianna, additional, Borsellino, Beatrice, additional, Buzzatti, Elisa, additional, Palmieri, Raffaele, additional, Paterno, Giovangiacinto, additional, Maurillo, Luca, additional, Buccisano, Francesco, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2023
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11. Predictors of Early Thrombotic Events in Adult Patients with Acute Myeloid Leukemia: A Real-World Experience

Author

Paterno, Giovangiacinto, primary, Palmieri, Raffaele, additional, Forte, Vittorio, additional, Del Prete, Valentina, additional, Gurnari, Carmelo, additional, Guarnera, Luca, additional, Mallegni, Flavia, additional, Pascale, Maria Rosaria, additional, Buzzatti, Elisa, additional, Mezzanotte, Valeria, additional, Cerroni, Ilaria, additional, Savi, Arianna, additional, Buccisano, Francesco, additional, Maurillo, Luca, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2022
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12. Case report: A Saprochaete clavata (Magnusiomyces clavatus) severe infection effectively treated with granulocyte transfusion in a young patient with myeloid sarcoma

Author

Pasqualone, Gianmario, primary, Buzzatti, Elisa, additional, Palmieri, Raffaele, additional, Savi, Arianna, additional, Pascale, Maria Rosaria, additional, Borsellino, Beatrice, additional, Guarnera, Luca, additional, Buccisano, Francesco, additional, Voso, Maria Teresa, additional, Maurillo, Luca, additional, Sconocchia, Giuseppe, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2022
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14. Can Polycythemia Vera evolve from Acute Myeloid Leukemia? A Case Report Showing a Simultaneous Minor JAK2 V617F Mutated Clone,

Author

Borsellino, Beatrice, primary, Savi, Arianna, additional, Pascale, Maria Rosaria, additional, Meddi, Elisa, additional, Cristiano, Antonio, additional, OTTONE, TIZIANA, additional, Rapanotti, Maria Cristina, additional, Divona, Mariadomenica, additional, TRAVAGLINI, SERENA, additional, Attardi, Enrico, additional, Buzzatti, Elisa, additional, Buccisano, Francesco, additional, and Voso, Maria Teresa, additional

Published
2022
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15. The venetoclax/azacitidine combination targets the disease clone in Acute Myeloid Leukemia, being effective and safe in a patient with COVID

Author

Cristiano, Antonio, primary, Palmieri, Raffaele, additional, Fabiani, Emiliano, additional, Ottone, Tiziana, additional, Divona, Mariadomenica, additional, Savi, Arianna, additional, Buccisano, Francesco, additional, Maurillo, Luca, additional, Tarella, Corrado, additional, Arcese, William, additional, and Voso, Maria Teresa, additional

Published
2022
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17. In BCR-ABL1 Positive B-Cell Acute Lymphoblastic Leukemia, Steroid Therapy Induces Hypofibrinogenemia

Author

Buzzatti, Elisa, primary, Forghieri, Fabio, additional, Paterno, Giovangiacinto, additional, Marchesi, Francesco, additional, Sarlo, Chiara, additional, Giglio, Fabio, additional, Fracchiolla, Nicola, additional, Sciumè, Mariarita, additional, Palmieri, Raffaele, additional, Esposito, Fabiana, additional, Guarnera, Luca, additional, Mercante, Lisa, additional, Pascale, Maria Rosaria, additional, Mallegni, Flavia, additional, Savi, Arianna, additional, Forte, Vittorio, additional, Maurillo, Luca, additional, Buccisano, Francesco, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2022
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18. Occult central nervous system involvement guides therapeutic choices in blastic plasmacytoid dendritic cell neoplasms

Author

Buzzatti, Elisa, primary, Paterno, Giovangiacinto, additional, Palmieri, Raffaele, additional, Esposito, Fabiana, additional, Pascale, Maria Rosaria, additional, Mallegni, Flavia, additional, Guarnera, Luca, additional, Pasqualone, Gianmario, additional, Irno Consalvo, Maria Antonietta, additional, Fraboni, Daniela, additional, Moretti, Federico, additional, Savi, Arianna, additional, Borsellino, Beatrice, additional, Maurillo, Luca, additional, Buccisano, Francesco, additional, Sconocchia, Giuseppe, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2022
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19. Pneumocystis jirovecii pneumonia in patients with previously untreated acute myeloid leukaemia

Author

Paterno, Giovangiacinto, primary, Guarnera, Luca, additional, Palmieri, Raffaele, additional, Del Prete, Valentina, additional, Bonanni, Fabrizio, additional, Buzzatti, Elisa, additional, Moretti, Federico, additional, Casciani, Paola, additional, Savi, Arianna, additional, Di Cave, David, additional, Maurillo, Luca, additional, Buccisano, Francesco, additional, Venditti, Adriano, additional, and Del Principe, Maria Ilaria, additional

Published
2021
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21. Pneumocystis jirovecii pneumonia in patients with previously untreated acute myeloid leukaemia.

Author

Paterno, Giovangiacinto, Guarnera, Luca, Palmieri, Raffaele, Del Prete, Valentina, Bonanni, Fabrizio, Buzzatti, Elisa, Moretti, Federico, Casciani, Paola, Savi, Arianna, Di Cave, David, Maurillo, Luca, Buccisano, Francesco, Venditti, Adriano, and Del Principe, Maria Ilaria

Subjects
ACUTE myeloid leukemia, OLDER patients, SMOKING, IMMUNOCOMPROMISED patients, HIV infections, CANCER chemotherapy, PNEUMOCYSTIS pneumonia
Abstract

Background: Several studies in immunocompromised patients, such as those with HIV infection, undergoing cancer chemotherapy or organ transplant, have led to the development of guidelines on the use of prophylaxis to prevent Pneumocystis jirovecii pneumonia (PJP), in these specific conditions. Instead, since the association between PJP and acute myeloid leukaemia (AML) is not clearly defined, the role of prophylaxis in patients with AML is not yet established. Methods: We retrospectively analysed 251 consecutive patients with newly diagnosed non‐M3‐AML, admitted at the Hematology Unit of University Tor Vergata in Rome, during the period 2010–2020. The aim of the study was to evaluate the incidence of PJP among AML patients during their first hospital admission, and to identify subjects at a high risk to develop PJP. Results: Among 251 consecutive patients with non‐M3‐AML, 67 bronchoalveolar lavages (BAL) were performed. PJP was proven in 11/67 (16.7%) subjects undergoing BAL (11 males, median age 71 years), with an incidence of 4.3%. The most common reason for BAL execution were radiological findings such as ground‐glass opacities (6/11, 55%) and atypical patterns like consolidations and nodules (5/11, 45%). One patient died because of PJP after 11 days of trimethoprim/sulfamethoxazole therapy. In multivariate analysis older age and smoking habit were independent factors significantly associated with PJP (p =.021 and 0.017 respectively). Conclusion: We conclude that PJP infection is not uncommon among patients with AML. If intensive chemotherapy is planned, physicians should be aware of this risk and prophylaxis should be considered, particularly in older patients. [ABSTRACT FROM AUTHOR]

Published
2022
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22. Can Polycythemia Vera Evolve from Acute Myeloid Leukemia? Report of a Case Showing a Simultaneous Minor JAK2 V617F Mutated Clone.

Author

Borsellino, Beatrice, Savi, Arianna, Pascale, Maria Rosaria, Meddi, Elisa, Del Principe, Maria Ilaria, Cristiano, Antonio, Ottone, Tiziana, Rapanotti, Maria Cristina, Divona, Mariadomenica, Travaglini, Serena, Attardi, Enrico, Palmieri, Raffaele, Buzzatti, Elisa, Buccisano, Francesco, and Voso, Maria Teresa

Subjects
*POLYCYTHEMIA vera, *ACUTE myeloid leukemia, *MOLECULAR cloning, *MYELOPROLIFERATIVE neoplasms, *BONE marrow
Abstract

The evolution of myeloproliferative neoplasms (MPN) to acute myeloid leukemia (AML) occurs in 2-10% of patients, depending on the MPN subtype, treatment, and follow-up length. The reverse-path from AML to MPN has been rarely reported. We herein present a 75 years old woman with AML, in whom a JAK2-V617F positive polycythemia vera (PV) emerged during follow-up, 19 months from the end of consolidation treatment. JAK2-V617F mutation screening retrospectively performed by Next Generation Sequencing (NGS) and JAK2 MutaScreen was negative on the bone marrow sample collected at AML diagnosis. However, using digital droplet PCR (ddPCR), we detected a minor JAK2 V617F mutated clone at AML onset. In addition, a TET2 R550 mutated clone persisted at stable levels throughout the disease course. This case shows that a very small MPN clone masked at AML diagnosis may expand after treatment end and be erroneously interpreted as MPN evolving from AML. Very sensitive techniques such as ddPCR may help to unravel the true disease history in these cases. [ABSTRACT FROM AUTHOR]

Published
2022
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25. Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.

Author

Gurnari, Carmelo, Galossi, Elisa, Lumia, Eleonora, Piciocchi, Alfonso, Divona, Mariadomenica, Casciani, Elisa, Romano, Francesca, Diral, Elisa, Tomelleri, Alessandro, Caroni, Federico, Vitale, Antonio, Bergonzi, Gregorio Maria, Condorelli, Annalisa, Battipaglia, Giorgia, Morsia, Erika, Crisà, Elena, Triggianese, Paola, Savi, Arianna, Cardamone, Chiara, and Dragani, Matteo

Subjects
*SOMATIC mutation, *POLYMERASE chain reaction, *SYMPTOMS, *MOLECULAR diagnosis, *AUTOIMMUNE diseases
Abstract

Summary Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) is a haemato‐inflammatory syndrome genetically defined by somatic mutations in the X‐linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato‐rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy. Here, we validated a method to quantify UBA1 clonal burden and explored its applicability in patients with VEXAS. Given the different treatment interactions, droplet digital polymerase chain reaction (ddPCR) may allow for informed therapeutic decisions and implementation of personalized strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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26. An Polycythemia Vera Evolve from Acute Myeloid Leukemia? Report of a Case Showing a Simultaneous Minor JAK2 V617F Mutated Clone.

Author

Borsellino B, Savi A, Pascale MR, Meddi E, Del Principe MI, Cristiano A, Ottone T, Rapanotti MC, Divona M, Travaglini S, Attardi E, Palmieri R, Buzzatti E, Buccisano F, and Voso MT

Abstract

The evolution of myeloproliferative neoplasms (MPN) to acute myeloid leukemia (AML) occurs in 2-10% of patients, depending on the MPN subtype, treatment, and follow-up length. The reverse-path from AML to MPN has been rarely reported. We herein present a 75 years old woman with AML, in whom a JAK2 -V617F positive polycythemia vera (PV) emerged during follow-up, 19 months from the end of consolidation treatment. JAK2- V617F mutation screening retrospectively performed by Next Generation Sequencing (NGS) and JAK2 MutaScreen was negative on the bone marrow sample collected at AML diagnosis. However, using digital droplet PCR (ddPCR), we detected a minor JAK2 V617F mutated clone at AML onset. In addition, a TET2 R550 mutated clone persisted at stable levels throughout the disease course. This case shows that a very small MPN clone masked at AML diagnosis may expand after treatment end and be erroneously interpreted as MPN evolving from AML. Very sensitive techniques such as ddPCR may help to unravel the true disease history in these cases., Competing Interests: Competing interests: The authors declare no conflict of Interest.

Published
2022
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