Key result
Novel GATA1 mutation linked to transient abnormal myelopoiesis in an infant with Down syndrome.
Why the study?
Transient abnormal myelopoiesis occurs in children with Down syndrome and carries a 10 to 20% risk of myeloid leukemia, with novel mutations still being identified.
Case Report (n=1)
Reports a novel GATA1 mutation associated with transient abnormal myelopoiesis in an infant with Down syndrome and cyanotic congenital heart disease.
Should not yet change TAM management in Down syndrome; extends known GATA1 variants but remains hypothesis-generating.
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.
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Ramachandran et al. (2021) conducted a case report in Transient abnormal myelopoiesis in Down syndrome (n=1). GATA1 mutation was evaluated on Diagnosis of transient abnormal myelopoiesis with a novel GATA1 mutation. A novel GATA1 mutation was identified by next-generation sequencing in a 2-month-old male infant with Down syndrome and transient abnormal myelopoiesis.
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