Transient leukemia (TL), defined by circulating nonlymphoid blast in the peripheral blood, occurs in approximately 10% of infants with constitutional trisomy 21 (Down syndrome). The TL phenotype may also occur in newborns who do not have clinical signs of Down syndrome but nonconstitutional trisomy 21 due to mosaicism. We report the cases of 3 infants to highlight the specific parental concerns, diagnostic and counseling requirements for this group of infants and their families and suggest a practical approach to diagnosis, follow-up, anticipatory guidance, and discussion of prognosis for families with newborns diagnosed with TL and nonconstitutional trisomy 21.
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Article Synopsis
- Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) presents similarly to acute megakaryoblastic leukemia but usually resolves on its own within months postpartum.
- Some cases of TAM can lead to severe health issues, impacting the patient's prognosis negatively.
- An autopsy of a stillborn female with TAM and DS revealed GATA1s protein expression in unusual immature megakaryocytes, indicating that placental tissue can be useful for diagnosing TAM histologically.
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