ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure

Author:

Marum Justine E.12,Yeung David T.1345,Purins Leanne6,Reynolds John7,Parker Wendy T.8,Stangl Doris1,Wang Paul P. S.8,Price David J.9,Tuke Jonathan9,Schreiber Andreas W.8,Scott Hamish S.1581011,Hughes Timothy P.3410,Branford Susan151011

Affiliation:

1. Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia;

2. Division of Health Sciences, University of South Australia, Adelaide, Australia;

3. Department of Haematology, SA Pathology, Adelaide, Australia;

4. Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, Australia;

5. School of Medicine, University of Adelaide, Adelaide, Australia;

6. Department of Haematology Cellular Therapies, SA Pathology, Adelaide, Australia;

7. Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia;

8. Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia;

9. School of Mathematical Sciences, University of Adelaide, Adelaide, Australia;

10. School of Pharmacy and Medical Science, University of South Australia, Adelaide, Australia; and

11. School of Biological Sciences, University of Adelaide, Adelaide, Australia

Abstract

Key Points Germ line variants in ASXL1 and BIM are strong biomarkers of response to imatinib in chronic phase CML. A combined Sokal risk and ASXL1 and BIM variant model identified a subgroup of patients with the greatest risk of treatment failure.

Publisher

American Society of Hematology

Subject

Hematology

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