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Journal Articles

Investigating Neutropenia in FNIP1 Deficiency: A CRISPR/Cas9 Model in HL-60 Cells

Francesco Saettini, Fabiola Guerra, Benedetta Elena Di Majo, Mario Mauri, Federica Malighetti, Angela Maria Savino, Stefano Rebellato, Arnalda Lanfranchi, Cristina Bugarin, Cecilia Poli, Elma Nievas, Tim Niehues, Peter McNaughton, Selami Ulaş, Sven Kracker, Rocco Piazza, Grazia Fazio, Andrea Biondi
Journal: Blood
Blood (2024) 144 (Supplement 1): 2526.
https://doi.org/10.1182/blood-2024-209621
Published: 2024
Journal Articles

Frequency and Early Prognostic Significance of Gene-Class Fusions Identified By RNA-Seq in Children and Adolescent with T-Cell Acute Lymphoblastic Leukemia Enrolled on AIEOP-BFM ALL 2017 Study

Giacomo Gotti, Claudia Saitta, Daniela Silvestri, Arianna Colombo, Federica Colnaghi, Stefano Rebellato, Matilde Marzorati, Nicolò Peccatori, Nicoletta Bertorello, Luca Lo Nigro, Franco Locatelli, Rosanna Parasole, Maria Caterina Putti, Valentino Conter, Antonella Colombini, Barbara Buldini, Andrea Biondi, Maria Grazia Valsecchi, Giovanni Cazzaniga, Grazia Fazio, Carmelo Rizzari
Journal: Blood
Blood (2024) 144 (Supplement 1): 4217.
https://doi.org/10.1182/blood-2024-207345
Published: 2024
Journal Articles

Decoding Transcriptomic Landscape and Molecular Pathways in DNAJC21 Deficiency

Francesco Saettini, Shreya Kanade, Fabiola Guerra, Benedetta Elena Di Majo, Francesca Vendemini, Federica Mottadelli, Grazia Fazio, Deborah D'Aliberti, Silvia Spinelli, Vincenzo L'Imperio, Albert Catala, Elena Laura Gonzalez-Forster, Maria Solsona, Josune Zubicaray, Julián Sevilla, Eva Galvez Villa, Andrea Biondi, Yigal Dror, Rocco Piazza
Journal: Blood
Blood (2024) 144 (Supplement 1): 5702.
https://doi.org/10.1182/blood-2024-209506
Published: 2024
Journal Articles

Optimizing Molecular Diagnosis of Systemic Mastocytosis in the Era of KIT Tyrosine Kinase Inhibitors: Results of a Survey and of a Nationwide Proficiency Control Round of KIT D816V Mutation Testing Promoted By the RIMA (Rete Italiana MAstocitosi) Association

Simona Soverini, Cecilia Monaldi, Sara De Santis, Manuela Mancini, Francesco Albano, Luisa Anelli, Loredana Bruno, Ignazio Brusca, Grazia Fazio, Lilia Maria Corral Abascal, Francesca Guerrini, Clara Bono, Giovanni Iaquinta, Paola Grammatico, Elisabetta Novella, Omar Perbellini, Orietta Spinelli, Silvia Salmoiraghi, Stefano Baldoni, Alessia Persico, Giuseppa De Luca, Calogero Lauricella, Giovanna Piras, Angelo D. Palmas, Samantha Bruno, Cristina Mosca, Chiara Sartor, Cristina Papayannidis, Paola Guglielmelli, Alessandro M. Vannucchi, Patrizia Bonadonna, Francesco Mannelli, Nicholas C. P. Cross, Michele Cavo, Roberta Zanotti, Chiara Elena
Journal: Blood
Blood (2024) 144 (Supplement 1): 7640.
https://doi.org/10.1182/blood-2024-202485
Published: 2024
Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

Somatic and Germline Cohesin Genes Alterations in Pediatric Acute Lymphoblastic Leukemia

Stefano Rebellato, Claudia Saitta, Laura Rachele Bettini, Daniela Silvestri, Orietta Spinelli, Agata Pastorczak, Danielle Brandes, Ute Fischer, Arndt Borkhardt, Sabine Strehl, Luca Lo Nigro, Barbara Buldini, Julia Hauer, Franziska Auer, Lennart Kester, Roland P. Kuiper, Luciana Vinti, Franco Locatelli, Andrea Biondi, Grazia Fazio, Giovanni Cazzaniga
Journal: Blood
Blood (2023) 142 (Supplement 1): 1600.
https://doi.org/10.1182/blood-2023-189244
Published: 2023
Journal Articles

Crebbp Mutations Are Associated with Slow Minimal Residual Response to Upfront Induction Chemotherapy in Pediatric High-Hyperdiploid B-Cell Precursor Acute Lymphoblastic Leukemia Treated in the AIEOP-BFM ALL 2009 Protocol

Giacomo Gotti, Daniela Silvestri, Grazia Fazio, Chiara Palmi, Valentino Conter, Maria Grazia Valsecchi, Carmelo Rizzari, Barbara Buldini, Franco Locatelli, Andrea Biondi, Giovanni Cazzaniga
Journal: Blood
Blood (2023) 142 (Supplement 1): 4344.
https://doi.org/10.1182/blood-2023-187833
Published: 2023
Journal Articles

Targeting Hyperactivated Lck in PAX5 Rearranged Pediatric B-Cell Precursors Acute Lymphoblastic Leukemia

Grazia Fazio, Manuel Quadri, Silvia Bresolin, Chiara Palmi, Michela Bardini, Athanasios Oikonomou, Jia-Wey Tu, Katerina Scharov, Alberto Peloso, Titus Watrin, Sanil Bhatia, Arndt Borkhardt, Andrea Biondi, Giovanni Cazzaniga
Journal: Blood
Blood (2022) 140 (Supplement 1): 3107–3108.
https://doi.org/10.1182/blood-2022-169023
Published: 2022
Journal Articles

Novel Drugs to Target JAK2 Rearrangements in Pediatric Acute Lymphoblastic Leukemia

Manuel Quadri, Claudia Saitta, Sonia Palamini, Chiara Palmi, Jia-Wey Tu, Sanil Bhatia, Arndt Borkhardt, Andrea Biondi, Giovanni Cazzaniga, Grazia Fazio
Journal: Blood
Blood (2022) 140 (Supplement 1): 364–365.
https://doi.org/10.1182/blood-2022-169437
Published: 2022
Journal Articles

Ph-like and IKZF1plus Features in Children with Down Syndrome and B Cell Precursor Acute Lymphoblastic Leukemia

Chiara Palmi, Silvia Bresolin, Stefanie V. Junk, Grazia Fazio, Daniela Silvestri, Marketa Zaliova, Athanasios Oikonomou, Katerina Scharov, Martin Stanulla, Anja Moericke, Martin Zimmermann, Martin Schrappe, Barbara Buldini, Claudia Saitta, Marta Galbiati, Michela Bardini, Sanil Bhatia, Arndt Borkhardt, Luca Lo Nigro, Valentino Conter, Maria Grazia Valsecchi, Andrea Biondi, Geertruij Te Kronnie, Gunnar Cario, Giovanni Cazzaniga
Journal: Blood
Blood (2022) 140 (Supplement 1): 6367–6368.
https://doi.org/10.1182/blood-2022-169131
Published: 2022
Journal Articles

First Description of a Frameshift PAX5 Germline Variant in Two Siblings with B-Cell Precursor Acute Lymphoblastic Leukemia

Laura Rachele Bettini, Grazia Fazio, Claudia Saitta, Sonia Palamini, Chiara Buracchi, Stefano Rebellato, Nicola Santoro, Cristiano Simone, Andrea Biondi, Giovanni Cazzaniga
Journal: Blood
Blood (2022) 140 (Supplement 1): 3489–3490.
https://doi.org/10.1182/blood-2022-169311
Published: 2022
Journal Articles

The RNA Binding Protein Musashi-2 (MSI2) Sustains the Growth and the Leukemogenic Potential of MLL-Rearranged Acute Lymphoblastic Leukemia, and It Is Involved in Glucocorticoid Resistance

Luigia Valsecchi, Simone Naso, Simona Procopio, Mario Mauri, Rocco Piazza, Titus Watrin, Sanil Bhatia, Valentina Pasquale, Elena Sacco, Chiara Palmi, Grazia Fazio, Luca Trentin, Silvia Bresolin, Andrea Biondi, Giovanni Cazzaniga, Michela Bardini
Journal: Blood
Blood (2022) 140 (Supplement 1): 8827–8828.
https://doi.org/10.1182/blood-2022-166313
Published: 2022
Journal Articles

Targeted Next Generation Sequencing Reveals a Third Breakpoint Cluster Region and New Partner Genes in the KMT2A Recombinome

Claus Meyer, Patrizia Larghero, Bruno Lopes, Aurélie Caye-Eude, Hélène Cavé, Marius Külp, Matthew James Smith, Rosemary Sutton, Nicola Venn, Karin Nebral, Susanne Kubetzko, Beat Schaefer, Grazia Fazio, Giovanni Cazzaniga, Mariana Emerenciano, Rolf Marschalek
Journal: Blood
Blood (2021) 138 (Supplement 1): 3327.
https://doi.org/10.1182/blood-2021-146172
Published: 2021
Journal Articles

Recurrent Germline Variant in the Cohesin Complex Gene RAD21 Predisposes Children to Lymphoblastic Leukemia and Lymphoma

Anne Schedel, Ulrike Anne Friedrich, Rabea Wagener, Juha Mehtonen, Claudia Saitta, Triantafyllia Brozou, Pia Michler, Carolin Walter, Peter Horak, Nagarajan Paramasivam, Grazia Fazio, Stefan Fröhling, Martin Dugas, Daniela Richter, Hanno Glimm, Merja Heinäniemi, Rolf Jessberger, Giovanni Cazzaniga, Arndt Borkhardt, Julia Hauer, Franziska Auer
Journal: Blood
Blood (2021) 138 (Supplement 1): 3358.
https://doi.org/10.1182/blood-2021-150284
Published: 2021
Journal Articles

Targeting JAK2 Gene Rearrangements with a Novel Kinase Inhibitor in a Preclinical Model of Pediatric Acute Lymphoblastic Leukemia

Manuel Quadri, Claudia Saitta, Sonia Palamini, Chiara Palmi, Andrea Biondi, Giovanni Cazzaniga, Grazia Fazio
Journal: Blood
Blood (2021) 138 (Supplement 1): 1180.
https://doi.org/10.1182/blood-2021-152270
Published: 2021
Journal Articles

Potential Role of STAG1 Mutations in Genetic Predisposition to Childhood Hemato-Oncological Diseases

Claudia Saitta, Stefano Rebellato, Laura Rachele Bettini, Giovanni Giudici, Nicolò Panini, Eugenio Erba, Simona Songia, Valentina Massa, Andrea Biondi, Grazia Fazio, Giovanni Cazzaniga
Journal: Blood
Blood (2021) 138 (Supplement 1): 1155.
https://doi.org/10.1182/blood-2021-152586
Published: 2021
Journal Articles

Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants

Grazia Fazio, Michela Bardini, Paola De Lorenzo, Andrea Grioni, Manuel Quadri, Lucia Pedace, Lilia Corral Abascal, Sonia Palamini, Chiara Palmi, Barbara Buldini, Luciana Vinti, Rosanna Parasole, Elena Barisone, Marco Zecca, Claudio Favre, Franco Locatelli, Valentino Conter, Carmelo Rizzari, Maria Grazia Valsecchi, Andrea Biondi, Giovanni Cazzaniga
Journal: Blood
Blood (2021) 137 (14): 1980–1984.
https://doi.org/10.1182/blood.2020009032
Published: 2021
Includes: Supplemental data
Journal Articles

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Brief Report
Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C. Orellana, Grazia Fazio, Fred H. Rodriguez, III, Loreani P. Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G. M. Kroes, Daniele Moratto, Monique M. van Oostaijen-ten Dam, Frank Baas, Silvère van der Maarel, Rocco Piazza, Zeynep H. Coban-Akdemir, James R. Lupski, Bo Yuan, Ivan K. Chinn, Lucia Daxinger, Andrea Biondi
Journal: Blood
Blood (2021) 137 (4): 493–499.
https://doi.org/10.1182/blood.2020006441
Published: 2021
Includes: Supplemental data
Journal Articles

Incidence and Therapeutic Implications of Germline TP53 Mutations in Hypodiploid Childhood Acute Lymphoblastic Leukemia: A Retrospective Analysis of the Italian Cohort

Laura Rachele Bettini, Claudia Saitta, Barbara Buldini, Geertruij Te Kronnie, Stefano Rebellato, Daniela Silvestri, Elena Barisone, Andrea Pession, Marco Rabusin, Concetta Micalizzi, Franco Locatelli, MD PhD, Carmelo Rizzari, Maria Grazia Valsecchi, PhD, Andrea Biondi, MD, Grazia Fazio, Giovanni Cazzaniga, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 43–44.
https://doi.org/10.1182/blood-2020-142729
Published: 2020
Journal Articles

Poor Prognosis in Children with ABL -Class Fusion Positive B-Cell Acute Lymphoblastic Leukemia Treated According to AIEOP-BFM Protocols

Gunnar Cario, MD PhD, Veronica Leoni, Valentino Conter, MD, Andishe Attarbaschi, MD, Marketa Zaliova, MD PhD, Lucie Sramkova, Giovanni Cazzaniga, PhD, Grazia Fazio, Rosemary Sutton, BSc MSc PhD, Sarah Elitzur, MD, Shai Izraeli, MD, Melchior Lauten, Franco Locatelli, MD PhD, Giuseppe Basso, MD PhD, Barbara Buldini, MD PhD, Anke K Bergmann, Jana Lentes, Doris Steinemann, Gudrun Gohring, Brigitte Schlegelberger, MD, Oskar A Haas, Denis Martin Schewe, Swantje Buchmann, Anja Moericke, Deborah L. White, PhD FFSc (RCPA), Tamas Revesz, Martin Stanulla, Georg Mann, MD, Nicole Bodmer, Nira Arad-Cohen, Jan Zuna, Maria Grazia Valsecchi, PhD, Martin Zimmermann, PhD, Martin Schrappe, MD PhD, Andrea Biondi, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 1351.
https://doi.org/10.1182/blood-2019-126523
Published: 2019