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Mario Cazzola
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Journal Articles

Molecular taxonomy of myelodysplastic syndromes and its clinical implications

Clinical Trials & Observations
Elsa Bernard, Robert P. Hasserjian, Peter L. Greenberg, Juan E. Arango Ossa, Maria Creignou, Heinz Tuechler, Jesus Gutierrez-Abril, Dylan Domenico, Juan S. Medina-Martinez, Max Levine, Konstantinos Liosis, Noushin Farnoud, Maria Sirenko, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Yasuhito Nannya, Olivier Kosmider, Matilde Y. Follo, Felicitas Thol, Lurdes Zamora, Ronald F. Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H. Jansen, José Cervera, Norbert Gattermann, Benjamin L. Ebert, Rafael Bejar, Luca Malcovati, Seishi Ogawa, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil
Journal: Blood
Blood (2024) 144 (15): 1617–1632.
https://doi.org/10.1182/blood.2023023727
Published: 2024
Includes: Supplemental data
Journal Articles

Molecular and clinical presentation of UBA1 -mutated myelodysplastic syndromes

Brief Report
Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil
Journal: Blood
Blood (2024) 144 (11): 1221–1229.
https://doi.org/10.1182/blood.2023023723
Published: 2024
Includes: Supplemental data
Journal Articles

Introduction to a review series on myelodysplastic syndromes in the age of genomic medicine

Mario Cazzola
Journal: Blood
Blood (2023) 142 (26): 2223.
https://doi.org/10.1182/blood.2023022912
Published: 2023
Journal Articles

The Significance of Variant Allele Frequency in SF3B1 Mutated Myelodysplastic Neoplasms/Syndromes

Curtis A. Lachowiez, Georgios Asimomitis, Elsa Bernard, Ivory Tang, Maria Creignou, Ulrich Germing, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellstrom Lindberg, Elli Papaemmanuil, Sanam Loghavi
Journal: Blood
Blood (2023) 142 (Supplement 1): 1870.
https://doi.org/10.1182/blood-2023-179899
Published: 2023
Journal Articles

Molecular Taxonomy of Myelodysplastic Syndromes and Its Clinical Implications

Elsa Bernard, Robert Hasserjian, Peter L. Greenberg, Juan E Arango Ossa, Maria Creignou, Yasuhito Nannya, Heinz Tuechler, Juan S Medina-Martínez, Max F Levine, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Olivier Kosmider, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K Elias, Detlef Haase, Maria Sirenko, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Norbert Gattermann, Benjamin L. Ebert, Rafael Bejar, Luca Malcovati, Mario Cazzola, Seishi Ogawa, Eva Hellstrom Lindberg, Elli Papaemmanuil
Journal: Blood
Blood (2023) 142 (Supplement 1): 997.
https://doi.org/10.1182/blood-2023-186863
Published: 2023
Journal Articles

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Andrea Pellagatti, Harold K Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B Beck, Eva Hellstrom Lindberg, Elli Papaemmanuil
Journal: Blood
Blood (2023) 142 (Supplement 1): 1862.
https://doi.org/10.1182/blood-2023-182949
Published: 2023
Journal Articles

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity

CME Clinical Trials & Observations
Elisabetta Molteni, Elisa Bono, Anna Gallì, Chiara Elena, Jacqueline Ferrari, Nicolas Fiorelli, Sara Pozzi, Virginia Valeria Ferretti, Martina Sarchi, Ettore Rizzo, Virginia Camilotto, Emanuela Boveri, Mario Cazzola, Luca Malcovati
Journal: Blood
Blood (2023) 142 (7): 643–657.
https://doi.org/10.1182/blood.2022019304
Published: 2023
Includes: Supplemental data
Journal Articles

Introduction to a review series on classic myeloproliferative neoplasms

Mario Cazzola
Journal: Blood
Blood (2023) 141 (16): 1897–1899.
https://doi.org/10.1182/blood.2023019876
Published: 2023
Journal Articles

Introduction to a review series on germ line predisposition to hematologic malignancies: time to consider germ line testing

Mario Cazzola
Journal: Blood
Blood (2023) 141 (13): 1509–1512.
https://doi.org/10.1182/blood.2023019846
Published: 2023
Journal Articles

Secreted mutant calreticulins as rogue cytokines in myeloproliferative neoplasms

Christian Pecquet, Nicolas Papadopoulos, Thomas Balligand, Ilyas Chachoua, Amandine Tisserand, Gaëlle Vertenoeil, Audrey Nédélec, Didier Vertommen, Anita Roy, Caroline Marty, Harini Nivarthi, Jean-Philippe Defour, Mira El-Khoury, Eva Hug, Andrea Majoros, Erica Xu, Oleh Zagrijtschuk, Tudor E. Fertig, Daciana S. Marta, Heinz Gisslinger, Bettina Gisslinger, Martin Schalling, Ilaria Casetti, Elisa Rumi, Daniela Pietra, Chiara Cavalloni, Luca Arcaini, Mario Cazzola, Norio Komatsu, Yoshihiko Kihara, Yoshitaka Sunami, Yoko Edahiro, Marito Araki, Roman Lesyk, Veronika Buxhofer-Ausch, Sonja Heibl, Florence Pasquier, Violaine Havelange, Isabelle Plo, William Vainchenker, Robert Kralovics, Stefan N. Constantinescu
Journal: Blood
Blood (2023) 141 (8): 917–929.
https://doi.org/10.1182/blood.2022016846
Published: 2023
Includes: Supplemental data
Journal Articles

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms

Hideki Makishima, Ryunosuke Saiki, Yasuhito Nannya, Sophia Korotev, Carmelo Gurnari, June Takeda, Yukihide Momozawa, Steve Best, Pramila Krishnamurthy, Tetsuichi Yoshizato, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Yasunobu Nagata, Nobuyuki Kakiuchi, Makoto Onizuka, Kenichi Chiba, Hiroko Tanaka, Ayana Kon, Yotaro Ochi, Masahiro M. Nakagawa, Rurika Okuda, Takuto Mori, Akinori Yoda, Hidehiro Itonaga, Yasushi Miyazaki, Masashi Sanada, Takayuki Ishikawa, Shigeru Chiba, Hisashi Tsurumi, Senji Kasahara, Carsten Müller-Tidow, Akifumi Takaori-Kondo, Kazuma Ohyashiki, Toru Kiguchi, Fumihiko Matsuda, Joop H. Jansen, Chantana Polprasert, Piers Blombery, Yoichiro Kamatani, Satoru Miyano, Luca Malcovati, Torsten Haferlach, Michiaki Kubo, Mario Cazzola, Austin G. Kulasekararaj, Lucy A. Godley, Jaroslaw P. Maciejewski, Seishi Ogawa
Journal: Blood
Blood (2023) 141 (5): 534–549.
https://doi.org/10.1182/blood.2022018221
Published: 2023
Includes: Supplemental data
Journal Articles

Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

Clinical Trials & Observations
Eric J. Duncavage, Adam Bagg, Robert P. Hasserjian, Courtney D. DiNardo, Lucy A. Godley, Ilaria Iacobucci, Siddhartha Jaiswal, Luca Malcovati, Alessandro M. Vannucchi, Keyur P. Patel, Daniel A. Arber, Maria E. Arcila, Rafael Bejar, Nancy Berliner, Michael J. Borowitz, Susan Branford, Anna L. Brown, Catherine A. Cargo, Hartmut Döhner, Brunangelo Falini, Guillermo Garcia-Manero, Torsten Haferlach, Eva Hellström-Lindberg, Annette S. Kim, Jeffery M. Klco, Rami Komrokji, Mignon Lee-Cheun Loh, Sanam Loghavi, Charles G. Mullighan, Seishi Ogawa, Attilio Orazi, Elli Papaemmanuil, Andreas Reiter, David M. Ross, Michael Savona, Akiko Shimamura, Radek C. Skoda, Francesc Solé, Richard M. Stone, Ayalew Tefferi, Matthew J. Walter, David Wu, Benjamin L. Ebert, Mario Cazzola
Journal: Blood
Blood (2022) 140 (21): 2228–2247.
https://doi.org/10.1182/blood.2022015853
Published: 2022
Includes: Supplemental data
Journal Articles

Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies

Hideki Makishima, Ryunosuke Saiki, Yasuhito Nannya, Sophia C. Korotev, Carmelo Gurnari, June Takeda, Yukihide Momozawa, Steve Best, Pramila Krishnamurthy, Tetsuichi Yoshizato, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Yasunobu Nagata, Nobuyuki Kakiuchi, Makoto Onizuka, Kenichi Chiba, Hiroko Tanaka, Ayana Kon, Yotaro Ochi, Masahiro Marshall Nakagawa, Rurika Okuda, Takuto Mori, Akinori Yoda, Hidehiro Itonaga, Yasushi Miyazaki, Masashi Sanada, Takayuki Ishikawa, Shigeru Chiba, Hisashi Tsurumi, Senji Kasahara, Carsten Müller-Tidow, Akifumi Takaori-Kondo, Kazuma Ohyashiki, Toru Kiguchi, Fumihiko Matsuda, Joop H. Jansen, Chantana Polprasert, Piers Blombery, Yoichiro Kamatani, Satoru Miyano, Luca Malcovati, Torsten Haferlach, Michiaki Kubo, Mario Cazzola, Austin Kulasekararaj, Lucy A. Godley, Jaroslaw P. Maciejewski, Seishi Ogawa
Journal: Blood
Blood (2022) 140 (Supplement 1): 208–210.
https://doi.org/10.1182/blood-2022-158851
Published: 2022
Journal Articles

Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1 , GATA2 and DDX41

Anna L. Brown, Claire Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew Pozsgai, Kelsey McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah King-Smith, Jesse JC Cheah, Mark Armstrong, Csaba Bödör, Paul Wang, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Young Rienhoff, Jr., Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul P. Liu, Lucy A. Godley
Journal: Blood
Blood (2022) 140 (Supplement 1): 4030–4033.
https://doi.org/10.1182/blood-2022-167600
Published: 2022
Journal Articles

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Maria Sirenko, Elsa Bernard, David B. Beck, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango, Olivier Kosmider, Robert P. Hasserjian, Martin Jadersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Matilde Y Follo, Felicitas R. Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo G. Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio Pires de Souza Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil
Journal: Blood
Blood (2022) 140 (Supplement 1): 9785–9788.
https://doi.org/10.1182/blood-2022-162397
Published: 2022
Journal Articles

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

Daniel A. Arber, Attilio Orazi, Robert P. Hasserjian, Michael J. Borowitz, Katherine R. Calvo, Hans-Michael Kvasnicka, Sa A. Wang, Adam Bagg, Tiziano Barbui, Susan Branford, Carlos E. Bueso-Ramos, Jorge E. Cortes, Paola Dal Cin, Courtney D. DiNardo, Hervé Dombret, Eric J. Duncavage, Benjamin L. Ebert, Elihu H. Estey, Fabio Facchetti, Kathryn Foucar, Naseema Gangat, Umberto Gianelli, Lucy A. Godley, Nicola Gökbuget, Jason Gotlib, Eva Hellström-Lindberg, Gabriela S. Hobbs, Ronald Hoffman, Elias J. Jabbour, Jean-Jacques Kiladjian, Richard A. Larson, Michelle M. Le Beau, Mignon L.-C. Loh, Bob Löwenberg, Elizabeth Macintyre, Luca Malcovati, Charles G. Mullighan, Charlotte Niemeyer, Olatoyosi M. Odenike, Seishi Ogawa, Alberto Orfao, Elli Papaemmanuil, Francesco Passamonti, Kimmo Porkka, Ching-Hon Pui, Jerald P. Radich, Andreas Reiter, Maria Rozman, Martina Rudelius, Michael R. Savona, Charles A. Schiffer, Annette Schmitt-Graeff, Akiko Shimamura, Jorge Sierra, Wendy A. Stock, Richard M. Stone, Martin S. Tallman, Jürgen Thiele, Hwei-Fang Tien, Alexandar Tzankov, Alessandro M. Vannucchi, Paresh Vyas, Andrew H. Wei, Olga K. Weinberg, Agnieszka Wierzbowska, Mario Cazzola, Hartmut Döhner, Ayalew Tefferi
Journal: Blood
Blood (2022) 140 (11): 1200–1228.
https://doi.org/10.1182/blood.2022015850
Published: 2022
Includes: Supplemental data
Journal Articles

Developing a classification of hematologic neoplasms in the era of precision medicine

Mario Cazzola, Laurie H. Sehn
Journal: Blood
Blood (2022) 140 (11): 1193–1199.
https://doi.org/10.1182/blood.2022015849
Published: 2022
Journal Articles

Ineffective erythropoiesis and its treatment

Mario Cazzola
Journal: Blood
Blood (2022) 139 (16): 2460–2470.
https://doi.org/10.1182/blood.2021011045
Published: 2022
Journal Articles

Introduction to a review series on normal and pathologic erythropoiesis

Mario Cazzola
Journal: Blood
Blood (2022) 139 (16): 2413–2414.
https://doi.org/10.1182/blood.2022015497
Published: 2022
Journal Articles

RNA missplicing and ring sideroblasts in MDS

Mario Cazzola
Journal: Blood
Blood (2022) 139 (13): 1933–1935.
https://doi.org/10.1182/blood.2021014923
Published: 2022