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KMID : 0387820130200010066
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Clinical Pediatric Hematology-Oncology
2013 Volume.20 No. 1 p.66 ~ p.70
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GATA1-positive Acute Megakaryoblastic Leukemia in a 6.9-year-old Patient with Down Syndrome: What is the Prognosis?
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Park Joo-Hyun
Lee Youn-Kyung
Park Mee-Rim
Son Bo-Ra
Seo Ja-Young
Kim Hee-Jin
Im Ho-Joon
Lim Yeon-Jung
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Abstract
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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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KEYWORD
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Down syndrome, Acute megakaryoblastic leukemia, Older, GATA1
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