Clin Pediatr Hematol Oncol.
2013 Apr;20(1):66-70.
GATA1-positive Acute Megakaryoblastic Leukemia in a 6.9-year-old Patient with Down Syndrome: What is the Prognosis?
- Affiliations
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- 1Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea. ming2a@daum.net
- 2Department of Laboratory Medicine, Chungbuk National University College of Medicine, Cheongju, Korea.
- 3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 4Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
- 5Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, Korea.
Abstract
- 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.
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