Genetic lesions associated with chronic lymphocytic leukemia chemo-refractoriness

Author:

Messina Monica1,Del Giudice Ilaria1,Khiabanian Hossein2,Rossi Davide3,Chiaretti Sabina1,Rasi Silvia3,Spina Valeria3,Holmes Antony B.4,Marinelli Marilisa1,Fabbri Giulia4,Piciocchi Alfonso5,Mauro Francesca R.1,Guarini Anna1,Gaidano Gianluca3,Dalla-Favera Riccardo467,Pasqualucci Laura48,Rabadan Raul2,Foà Robin1

Affiliation:

1. Hematology, Department of Cellular Biotechnologies and Hematology, Sapienza University, Rome, Italy;

2. Department of Systems Biology, Biomedical Informatics and Center for Computational Biology and Bioinformatics, Columbia University, New York, NY;

3. Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy;

4. Institute for Cancer Genetics and the Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY;

5. GIMEMA Data Center, Rome, Italy;

6. Department of Pathology and Cell Biology, and

7. Departments of Genetics and Development and of Microbiology and Immunology, Columbia University, New York, NY; and

8. Institute of Hematology, Department of Hematology and Clinical Immunology, University of Perugia, Perugia, Italy

Abstract

Key Points The coding genome of fludarabine-refractory CLL patients is characterized by 16 mutations/case and 4 copy number aberrations per case on average. Fludarabine-refractory CLL cases are enriched in FAT1 mutations occurring in 10% of patients, suggesting a role in the refractoriness event.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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