GATA1-positive Acute Megakaryoblastic Leukemia in a 6.9-year-old Patient with Down Syndrome: What is the Prognosis?
- Author:
Joohyun PARK
1
;
Youn Kyung LEE
;
Meerim PARK
;
Bo Ra SON
;
Ja Young SEO
;
Hee Jin KIM
;
Ho Joon IM
;
Yeon Jung LIM
Author Information
1. Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea. ming2a@daum.net
- Publication Type:Case Report
- Keywords:
Down syndrome;
Acute megakaryoblastic leukemia;
Older;
GATA1
- MeSH:
Bone Marrow;
Down Syndrome;
Humans;
Karyotype;
Leukemia, Megakaryoblastic, Acute;
Leukemia, Myeloid, Acute;
Myeloproliferative Disorders;
Recurrence
- From:Clinical Pediatric Hematology-Oncology
2013;20(1):66-70
- CountryRepublic of Korea
- Language:English
-
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.
