Mercaptopurine (MP) is the mainstay of curative therapy for acute lymphoblastic leukemia (ALL). We performed a genome-wide association study (GWAS) to comprehensively identify the genetic basis of MP intolerance in children with ALL in AALL03N1. MP dose intensity was defined as prescribed dose divided by the planned protocol dose during maintenance therapy.  Germline variants in <a href="https://www.ncbi.nlm.nih.gov/gene/55270">NUDT15</a> and <a href="https://www.ncbi.nlm.nih.gov/gene/7172">TPMT</a> were found to be strongly associated with MP intolerance in childhood ALL, which may have implications for treatment individualization in this disease.

Pharmacogenomics of Mercaptopurine Intolerance in Children with Acute Lymphoblastic Leukemia (AALL03N1)

Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia.

Systemic Exposure to Thiopurines and Risk of Relapse in Children With Acute Lymphoblastic Leukemia: A Children's Oncology Group Study.

Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia