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The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034 December 12, 2013 ©2013 by American Society of Hematology

The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

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Page 1: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

The genetic basis of myelodysplasia and its clinical relevance

by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati

BloodVolume 122(25):4021-4034

December 12, 2013

©2013 by American Society of Hematology

Page 2: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

Representative examples of morphologic abnormalities of myelodysplasia.

Mario Cazzola et al. Blood 2013;122:4021-4034

©2013 by American Society of Hematology

Page 3: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

Schematic representation of our current understanding of the pathophysiology of myelodysplasia.

Mario Cazzola et al. Blood 2013;122:4021-4034

©2013 by American Society of Hematology

Page 4: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

Schematic representation of our current knowledge of genotype/phenotype relationships in MDS, MDS/MPN, and a related MPN like CNL. The SF3B1 mutation is strictly associated with RARS,

whereas the combination of the SF3B1 mutation with subclonal driver mutat...

Mario Cazzola et al. Blood 2013;122:4021-4034

©2013 by American Society of Hematology

Page 5: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

Current approach to diagnosis and prognostication of MDS and MDS/MPN and a hypothetical future approach based on massive parallel sequencing.

Mario Cazzola et al. Blood 2013;122:4021-4034

©2013 by American Society of Hematology

Page 6: The genetic basis of myelodysplasia and its clinical relevance by Mario Cazzola, Matteo G. Della Porta, and Luca Malcovati Blood Volume 122(25):4021-4034

Kaplan-Meier analysis of overall survival and leukemia-free survival of 1110 patients diagnosed with MDS at the Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo,

Pavia, Italy, between 1990 and 2012.

Mario Cazzola et al. Blood 2013;122:4021-4034

©2013 by American Society of Hematology