SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells

Author:

Mortera-Blanco Teresa1,Dimitriou Marios1,Woll Petter S.12,Karimi Mohsen1,Elvarsdottir Edda1,Conte Simona1,Tobiasson Magnus1,Jansson Monika1,Douagi Iyadh1,Moarii Matahi3,Saft Leonie4,Papaemmanuil Elli3,Jacobsen Sten Eirik W.12,Hellström-Lindberg Eva1

Affiliation:

1. Center for Hematology and Regenerative Medicine, Karolinska Institutet, Department of Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden;

2. Haematopoietic Stem Cell Biology Laboratory, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;

3. Memorial Sloan Kettering Cancer Center, New York, NY; and

4. Division of Hematopathology, Department of Pathology, Karolinska University Hospital, Solna, Sweden

Abstract

Key Points SF3B1 mutations in MDS-RS have a multipotent lymphomyeloid origin. Transplantation of SF3B1 mutated MDS-RS HSCs into immune-deficient mice results in generation of characteristic ring sideroblasts.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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