[Congenital transient leukemia: a case report].

Area of Science:

• Hematology
• Pediatric Oncology
• Genetics

Background:

• Neonates with Down syndrome exhibit an elevated risk for congenital leukemia, specifically acute megakaryoblastic leukemia (FAB M7).
• Transient leukemia, a subtype of congenital leukemia, is frequently observed in infants with Down syndrome and often resolves spontaneously.

Observation:

• A case of transient leukemia with an isolated pericardial effusion in a phenotypically normal neonate is presented.
• Trisomy 21 was identified in the blast cells of the affected neonate.
• The neonate achieved complete remission and remained in remission for 32 months.

Findings:

• Congenital leukemia associated with trisomy 21 in blast cells demonstrates a favorable prognosis.
• The spontaneous resolution of transient leukemia in neonates with Down syndrome is a key characteristic.

Implications:

• The favorable prognosis of congenital leukemia with trisomy 21 supports a watch-and-wait approach before initiating chemotherapy.
• This case highlights the importance of recognizing transient leukemia in neonates, even those without constitutional Down syndrome.
• Early identification and monitoring can guide treatment decisions, potentially avoiding unnecessary interventions.