Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia

Author:

Malcovati Luca12,Papaemmanuil Elli3,Ambaglio Ilaria2,Elena Chiara2,Gallì Anna2,Della Porta Matteo G.24,Travaglino Erica2,Pietra Daniela2,Pascutto Cristiana2,Ubezio Marta12,Bono Elisa12,Da Vià Matteo C.12,Brisci Angela5,Bruno Francesca5,Cremonesi Laura5,Ferrari Maurizio5,Boveri Emanuela6,Invernizzi Rosangela4,Campbell Peter J.3,Cazzola Mario12

Affiliation:

1. Department of Molecular Medicine, University of Pavia, Pavia, Italy;

2. Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;

3. Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom;

4. Department of Internal Medicine, University of Pavia, Pavia, Italy;

5. Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy; and

6. Department of Human Pathology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy

Abstract

Key Points Different driver mutations have distinct effects on phenotype of myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). Accounting for driver mutations may allow a classification of these disorders that is considerably relevant for clinical decision-making.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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