Skip Navigation LinksHome > May 2015 - Volume 37 - Issue 4 > Treatment-related Myelodysplastic Syndrome in a Child With A...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0000000000000211
Online Articles: Clinical and Laboratory Observations

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

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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.

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.


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