What does this research mean for the field?

Spontaneous hematologic remission can occur in congenital acute megakaryoblastic leukemia in neonates with Down syndrome. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To report a rare case of spontaneous remission in congenital acute megakaryoblastic leukemia in a neonate with Down syndrome.

March 2, 2026Open Access

Spontaneous remission of congenital acute megakaryoblastic leukemia in a neonate with down syndrome

Key Points

To report a rare case of spontaneous remission in congenital acute megakaryoblastic leukemia in a neonate with Down syndrome.
Case presentation of a neonate with respiratory distress and hepatomegaly.
Laboratory evaluation indicating hyperleukocytosis and confirmation of AMKL via bone marrow studies.
Observation of clinical outcomes without chemotherapy.
Neonate presented with hyperleukocytosis at diagnosis (253.45 × 10^9/L).
Spontaneous hematologic remission occurred within 2 months of initial evaluation.
Case emphasizes unusual clinical course of DS-associated AMKL.

Abstract

Abstract Objectives Congenital acute megakaryoblastic leukemia (AMKL) is an extremely rare and aggressive malignancy with poor prognosis. Case presentation We report a female neonate with Down syndrome (DS) who presented with respiratory distress and hepatomegaly at birth. Laboratory evaluation revealed hyperleukocytosis (253.45 × 10 9 /L) and bone marrow studies confirmed AMKL with trisomy 21. Remarkably, spontaneous hematologic remission occurred within 2 months without chemotherapy. Conclusions This case highlights the unique clinical course of DS-associated AMKL and underscores the potential for spontaneous regression in congenital leukemia.

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Cite This Study

Yang et al. (Thu,) studied this question.

synapsesocial.com/papers/69a52e45f1e85e5c73bf1c4a https://doi.org/https://doi.org/10.1515/med-2025-1367

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