Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease

Author:

Branford Susan1234,Wang Paul15,Yeung David T.13678,Thomson Daniel1,Purins Adrian1,Wadham Carol1ORCID,Shahrin Nur Hezrin1,Marum Justine E.1,Nataren Nathalie1,Parker Wendy T.25,Geoghegan Joel5,Feng Jinghua5,Shanmuganathan Naranie1,Mueller Martin C.9,Dietz Christian9,Stangl Doris1,Donaldson Zoe1,Altamura Haley1,Georgievski Jasmina1,Braley Jodi1,Brown Anna1,Hahn Christopher1,Walker Ieuan10,Kim Soo-Hyun1112,Choi Soo-Young12,Park Sa-Hee12,Kim Dong-Wook111213,White Deborah L.347814,Yong Agnes S. M.3678,Ross David M.367815,Scott Hamish S.1234,Schreiber Andreas W.245,Hughes Timothy P.3678

Affiliation:

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

2. School of Pharmacy and Medical Science, Division of Health Sciences, University of South Australia, Adelaide, Australia;

3. School of Medicine, Faculty of Health and Medical Sciences, and

4. School of Biological Sciences, Faculty of Sciences, University of Adelaide, Adelaide, Australia;

5. Australian Cancer Research Foundation Genomics Facility and

6. Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia;

7. South Australian Health and Medical Research Institute, Adelaide, Australia;

8. Australasian Leukaemia and Lymphoma Group, Melbourne, Australia;

9. Institute for Hematology and Oncology, Mannheim, Germany;

10. Department of Haematological Medicine, King’s College London, London, United Kingdom;

11. Korea Leukemia Bank,

12. Catholic Leukemia Research Institute, and

13. Department of Hematology, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Korea;

14. Division of Health Sciences, University of South Australia, Adelaide, Australia; and

15. Department of Haematology, Flinders University and Medical Centre, Bedford Park, Australia

Abstract

Key Points Next-generation sequencing revealed variants in cancer-associated genes at diagnosis of CML more frequently in patients with poor outcomes. All patients at BC had mutated cancer genes, including fusions, that predated BCR-ABL1 kinase domain mutations in a majority.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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