SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

Author:

Malcovati Luca12,Karimi Mohsen3,Papaemmanuil Elli4,Ambaglio Ilaria25,Jädersten Martin3,Jansson Monika3,Elena Chiara12,Gallì Anna2,Walldin Gunilla3,Della Porta Matteo G.25,Raaschou-Jensen Klas6,Travaglino Erica2,Kallenbach Klaus7,Pietra Daniela2,Ljungström Viktor8,Conte Simona3,Boveri Emanuela9,Invernizzi Rosangela510,Rosenquist Richard8,Campbell Peter J.4,Cazzola Mario12,Hellström Lindberg Eva3

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 (IRCCS) Policlinico San Matteo, Pavia, Italy;

3. Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden;

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

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

6. Department of Hematology and

7. Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark;

8. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden;

9. Department of Pathology, and

10. Department of Internal Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy

Abstract

Key Points In MDS with ring sideroblasts, SF3B1 mutation defines a homogeneous subgroup with isolated erythroid dysplasia and favorable prognosis. MDS with ring sideroblasts and wild-type SF3B1 is mainly characterized by multilineage dysplasia and unfavorable prognosis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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