Minimally differentiated acute myeloid leukemia with ring/marker derived from chromosome 7 in a child with Down syndrome

Abstract

Children with Down syndrome (DS) present a higher risk for developing leukemia, with infants being especially prone to acute megakaryoblastic leukemia (AMKL).1 DS neonates are also predisposed to a reversible form of transient myeloproliferative disorder (TMD). Characteristically, AMKL and TMD are associated with mutations in the GATA1 gene, a transcription factor essential for erythroid and megakaryocyte differentiation. It is postulated that an increased RUNX1 gene expression due to constitutional trisomy 21 and somatic mutations in the GATA1 gene are the main mechanism processes responsible for the development of AMKL and TMD disorders.2 Hasle et al.3 showed that older children (>4 years old) with acute myeloid leukemia (AML) and DS have no mutation in the GATA1 gene, although they present diverse morphologic