Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome

Author:

Chigrinova Ekaterina12,Rinaldi Andrea1,Kwee Ivo134,Rossi Davide5,Rancoita Paola M. V.13,Strefford Jonathan C.6,Oscier David7,Stamatopoulos Kostas89,Papadaki Theodora8,Berger Francoise10,Young Ken H.11,Murray Fiona12,Rosenquist Richard12,Greiner Timothy C.13,Chan Wing C.13,Orlandi Ester M.14,Lucioni Marco14,Marasca Roberto15,Inghirami Giorgio16,Ladetto Marco17,Forconi Francesco618,Cogliatti Sergio19,Votavova Hana20,Swerdlow Steven H.21,Stilgenbauer Stephan22,Piris Miguel A.23,Matolcsy Andras24,Spagnolo Dominic25,Nikitin Eugene26,Zamò Alberto27,Gattei Valter28,Bhagat Govind29,Ott German30,Zucca Emanuele2,Gaidano Gianluca5,Bertoni Francesco12

Affiliation:

1. Lymphoma and Genomics Research Program, IOR Institute of Oncology Research, Bellinzona, Switzerland;

2. Oncology Institute of Southern Switzerland (IOSI), Bellinzona, Switzerland;

3. Dalle Molle Institute for Artificial Intelligence (IDSIA), Manno, Switzerland;

4. Swiss Institute of Bioinformatics, Lausanne, Switzerland;

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

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

7. Haematology, Royal Bournemouth Hospital, Bournemouth, United Kingdom;

8. Hematology Department and HCT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece;

9. Institute of Applied Biosciences, CERTH, Thessaloniki, Greece;

10. Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Université Lyon 1, Lyon, France;

11. Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX;

12. Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden;

13. Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE;

14. Department of Hematology Oncology, Hematology Unit and Division of Pathology, University of Pavia, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;

15. Division of Hematology, University of Modena and Reggio Emilia, Modena, Italy;

16. Department of Pathology, Center for Experimental Research and Medical Studies (CeRMS), University of Turin, Turin, Italy;

17. Division of Hematology, University of Turin, A.O.U. San Giovanni Battista, Turin, Italy;

18. Division of Hematology, University of Siena, Siena, Italy;

19. Pathology, St. Gallen Hospital, St. Gallen, Switzerland;

20. Department of Molecular Genetics, Institute of Hematology and Blood Transfusion, Prague, Czech Republic;

21. Division of Hematopathology, Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA;

22. Department of Internal Medicine III, Ulm University, Ulm, Germany;

23. Hospital Universitario Marques de Valdecilla, Santander, Spain;

24. 1st Department of Pathology and Experimental Cancer Research, Faculty of Medicine, Semmelweis University, Budapest, Hungary;

25. Department of Pathology, PathWest Laboratory Medicine WA, Nedlands, Australia;

26. Hematology Research Center of Russia, Moscow, Russian Federation;

27. Department of Pathology, University of Verona, Verona, Italy;

28. Clinical and Experimental Onco-Hematology Unit, Centro di Riferimento Oncologico, Aviano, Italy;

29. Columbia University Medical Center and New York Presbyterian Hospital, New York, NY; and

30. Department of Clinical Pathology, Robert-Bosch-Krankenhaus, and Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany

Abstract

Key Points Richter syndrome has genomic complexity intermediate between chronic lymphocytic leukemia and diffuse large B-cell lymphoma. Inactivation of TP53 and of CDKN2A is a main mechanism in the transformation to Richter syndrome.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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