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Treatment-related Myelodysplastic Syndrome in a Child With Acute Myeloid Leukemia and TPMT Heterozygosity

Stensman, Lars M. MD; Kjeldsen, Eigil MD; Nersting, Jacob PhD; Schmiegelow, Kjeld MD, DMsc; Hasle, Henrik MD, PhD

Journal of Pediatric Hematology/Oncology: May 2015 - Volume 37 - Issue 4 - p e242–e244
doi: 10.1097/MPH.0000000000000211
Online Articles: Clinical and Laboratory Observations

Introduction: We describe a patient diagnosed with acute myeloid leukemia (AML) and low activity of thiopurine methyltransferase (TPMT) who developed secondary myelodysplastic syndrome after treatment.

Observation: A 10-year-old boy presented with AML-M2 with t(8;21)(q22;q22) and genotyping revealing 3*B TPMT heterozygosity. The patient was treated according to the NOPHO-AML 2004 protocol. Two years after the treatment, the patient presented with neutropenia and thrombocytopenia. Bone marrow, including fluorescent in situ hybridization and retrospective aCGH analysis, verified therapy-related myelodysplastic syndrome with ring chromosome 6.

Discussion: The clinical course of this patient raises the possibility that low-activity TPMT genotypes may influence 6TG toxicity in patients with AML and lead to an increased risk of developing secondary malignant neoplasms.

*Department of Pediatrics, Aarhus University Hospital Skejby

Cancer Cytogenetics Laboratory, Department of Hematology, Aarhus University Hospital, Aarhus

Department of Pediatrics and Adolescent Medicine, University Hospital, Rigshospitalet

§Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

The authors declare no conflict of interest.

Reprints: Lars M. Stensman, MD, Department of Pediatrics A4, Aarhus University Hospital Skejby, Brendstrupgaardsvej 100, Aarhus DK-8200, Denmark (e-mail:

Received May 1, 2014

Accepted May 30, 2014

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