Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

Author:

Ljungström Viktor1,Cortese Diego1,Young Emma1,Pandzic Tatjana1,Mansouri Larry1,Plevova Karla2,Ntoufa Stavroula3,Baliakas Panagiotis1,Clifford Ruth4,Sutton Lesley-Ann1,Blakemore Stuart J.5,Stavroyianni Niki6,Agathangelidis Andreas78,Rossi Davide9,Höglund Martin10,Kotaskova Jana2,Juliusson Gunnar11,Belessi Chrysoula12,Chiorazzi Nicholas13,Panagiotidis Panagiotis14,Langerak Anton W.15,Smedby Karin E.16,Oscier David17,Gaidano Gianluca9,Schuh Anna4,Davi Frederic18,Pott Christiane19,Strefford Jonathan C.5,Trentin Livio20,Pospisilova Sarka2,Ghia Paolo78,Stamatopoulos Kostas136,Sjöblom Tobias1,Rosenquist Richard1

Affiliation:

1. Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden;

2. Central European Institute of Technology, Masaryk University and University Hospital Brno, Brno, Czech Republic;

3. Institute of Applied Biosciences, Center for Research and Technology Hellas, Thessaloniki, Greece;

4. Oxford National Institutes of Health Research Biomedical Research Centre, University of Oxford, Oxford, United Kingdom;

5. Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom;

6. Hematology Department and Hematopoietic Cell Transplantation Unit, G. Papanicolaou Hospital, Thessaloniki, Greece;

7. Università Vita-Salute San Raffaele and

8. Division of Experimental Oncology and Department of Onco-Hematology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;

9. Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy;

10. Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden;

11. Department of Laboratory Medicine, Stem Cell Center, Lund University, Lund, Sweden;

12. Hematology Department, General Hospital of Nikea, Piraeus, Greece;

13. Karches Center for Chronic Lymphocytic Leukemia Research, The Feinstein Institute for Medical Research, Manhasset, New York;

14. First Department of Propaedeutic Medicine, School of Medicine, University of Athens, Athens, Greece;

15. Department of Immunology, Laboratory for Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands;

16. Department of Medicine Solna, Clinical Epidemiology Unit, Karolinska Institutet, Stockholm, Sweden;

17. Department of Haematology, Royal Bournemouth Hospital, Bournemouth, United Kingdom;

18. Laboratory of Hematology and Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France;

19. Second Medical Department, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany; and

20. Department of Medicine, Hematology and Clinical Immunology Branch, Padua University School of Medicine, Padua, Italy

Abstract

Key Points Whole-exome sequencing of CLL patients who relapsed after FCR treatment revealed frequent mutations in RPS15. RPS15 mutations are likely to be early clonal events and confer poor prognosis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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