NCI Definition: Myeloid neoplasms occurring in individuals with Down syndrome. There is an increased risk of acute leukemias in both children and adults with Down syndrome. In particular, the incidence of acute myeloid leukemia in Down syndrome children of less than five years of age is particularly high, it is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. This group of disorders also includes the entity transient abnormal myelopoiesis which occurs in neonates and is associated with GATA1 gene mutation. [1]

Disease Details

Myeloid Proliferations Related to Down Syndrome
Myeloid Neoplasm
Myeloid Leukemia Associated with Down Syndrome and Transient Abnormal Myelopoiesis Associated with Down Syndrome
OncoTree Name
Myeloid Proliferations Related to 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.