Clin Pediatr Hematol Oncol. 2013 Apr;20(1):66-70. English. Case Report.
Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea. firstname.lastname@example.org
Department of Laboratory Medicine, Chungbuk National University College of Medicine, Cheongju, Korea.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, Korea.
We describe a very rare case of 6.9-year-old boy with Down syndrome (DS) and a prior history of transient myeloproliferative disorder. He was diagnosed with acute megakaryoblastic leukemia and found to have a novel GATA1 gene mutation, as well as a complex karyotype without recurrent acute myeloid leukemia (AML) aberrations. The patient achieved an early bone marrow response to chemotherapy. However, relapse occurred during treatment, 9 months after the initial diagnosis. Although GATA1 mutations are closely associated with DS-AML, we speculate that factors other than the presence of the GATA1 mutation can affect the overall outcome in older pediatric patients.