Transient Abnormal Myelopoiesis with a Novel GATA1 Mutation in a Child with Down Syndrome: A Case Report and Brief Review

Transient abnormal myelopoiesis (TAM) is a unique entity seen in children with Down syndrome (DS) with 10 to 20% risk of developing myeloid leukemia in the first 5 years of life. We report a 2 months old male infant with DS detected to have hyperleukocytosis on routine preoperative workup for cyanotic congenital heart disease. Peripheral blood and bone marrow aspiration showed blasts, and next-generation sequencing detected a novel GATA1 mutation, and a diagnosis of TAM was confirmed in this child. This mutation has not been reported in TAM in the literature earlier to the best of our knowledge.