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A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL

Leukemia volume 17, pages 1422–1424 (2003)Cite this article

TO THE EDITOR

Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyses the S-methylation of thiopurines (eg 6-mercaptopurine (6-MP), 6-thioguanine (6-TG) and azathioprine).1 6-MP is a component of essentially all modern treatment protocols for acute lymphoblastic leukaemia (ALL) in childhood (eg Berlin–Frankfurt–Münster ALL regimen, St Jude Children's Research Hospital ALL regimen), since successful therapy has been associated with a long period of maintenance treatment with standard doses of 6-MP (ie 50–75 mg/m2 per day) in combination with methotrexate.2 Moreover, thiopurines are also used in the treatment of autoimmune diseases, chronic inflammatory bowel diseases and as immunosuppressants following solid organ transplantation.

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Acknowledgements

The work was supported by the BMBF Grant 01GG 9894 and the Robert Bosch Foundation, Stuttgart, Germany.

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Authors and Affiliations

  1. Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany

    E Schaeffeler, M Eichelbaum, U M Zanger & M Schwab

  2. Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany

    M Stanulla & M Schrappe

  3. Department of Paediatric Haematology and Oncology, Children's Hospital, Eberhard-Karls-University, Tuebingen, Germany

    J Greil

  4. Division of Clinical Pharmacology, Eberhard-Karls-University, Tuebingen, Germany

    M Eichelbaum

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  1. E Schaeffeler
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  2. M Stanulla
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  6. U M Zanger
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  7. M Schwab
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Schaeffeler, E., Stanulla, M., Greil, J. et al. A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. Leukemia 17, 1422–1424 (2003). https://doi.org/10.1038/sj.leu.2402981

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