NCI Definition: Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. [1]

Disease Details

Acute Myeloid Leukemia with GATA1 Mutations, Acute Myeloid Leukemia Occurring in Children with Down syndrome, AML Occurring in Children with Down Syndrome
Myeloid Proliferations Associated with Down Syndrome
OncoTree Name
Myeloid Leukemia Associated with Down Syndrome
OncoTree Code


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.