Clinical and biological aspects of myeloid leukemia in Down syndrome.

Boucher, Austin CCaldwell, Kenneth JCrispino, John DFlerlage, Jamie E


Children with Down syndrome have a heightened risk of leukemia and specifically a form called myeloid leukemia (ML-DS). While much work has been done to understand the molecular and genetic causes for this risk, little is known when it comes to patients who face ML-DS relapse. This study works to expand that knowledge and help to shape better treatments.


Children with Down syndrome are at an elevated risk of leukemia, especially myeloid leukemia (ML-DS). This malignancy is frequently preceded by transient abnormal myelopoiesis (TAM), which is self-limited expansion of fetal liver-derived megakaryocyte progenitors. An array of international studies has led to consensus in treating ML-DS with reduced-intensity chemotherapy, leading to excellent outcomes. In addition, studies performed in the past 20 years have revealed many of the genetic and epigenetic features of the tumors, including GATA1 mutations that are arguably associated with all cases of both TAM and ML-DS. Despite these advances in understanding the clinical and biological aspects of ML-DS, little is known about the mechanisms of relapse. Upon relapse, patients face a poor outcome, and there is no consensus on treatment. Future studies need to be focused on this challenging aspect of leukemia in children with DS.


Cancer, Leukemia, Leukemia, Myeloid, Neoplasms, Relapse