Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry

Author:

Moriyama Takaya1,Yang Yung-Li2,Nishii Rina13,Ariffin Hany4,Liu Chengcheng1,Lin Ting-Nien1,Yang Wenjian1,Lin Dong-Tsamn2,Yu Chih-Hsiang5,Kham Shirley6,Pui Ching-Hon7,Evans William E.1,Jeha Sima7,Relling Mary V.1,Yeoh Allen Eng-Juh89,Yang Jun J.1

Affiliation:

1. Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN;

2. Department of Laboratory Medicine and Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan;

3. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University Graduate School of Medicine, Tokyo, Japan;

4. Paediatric Haematology-Oncology Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia;

5. Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan;

6. National University Cancer Institute, National University Health System, Singapore;

7. Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN; and

8. Centre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, and

9. Cancer Science Institute of Singapore, National University of Singapore, Singapore

Abstract

Key Points We identified 3 novel loss-of-function variants in NUDT15 linked to thiopurine intolerance. Our findings extended the importance of NUDT15 variation in thiopurine pharmacogenetics in diverse populations.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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