Myeloid proliferations associated with Down syndrome: clinicopathologic characteristics of forty cases from five large academic institutions

Research Article

Open Access Gateway van den Akker T.A. · Liu Y.-C. · Liu H. · Chapman J. · Levine J. · Weinberg O. · Geyer J.T.
Abstract

Objectives: The incidence of myelodysplastic syndrome and acute myeloid leukemia is significantly increased in children with Down syndrome (DS). Within the revised 2016 WHO edition, these entities are jointly classified as myeloid leukemia associated with DS (ML-DS). Additionally, infants with DS may develop transient abnormal myelopoiesis (TAM) which is histomorphologically identical to ML-DS. While TAM is self-limiting, it is associated with an increased risk of subsequently developing ML-DS. Differentiating TAM and ML-DS is challenging but clinically critical. Methods: We performed a retrospective review of ML-DS and TAM cases collected from five large academic institutions in the United States. We assessed clinical, pathologic, immunophenotypic, and molecular features to identify differentiating criteria. Results: Forty cases were identified; 28 ML-DS and 12 TAM. Several features were diagnostically distinct, including younger age in TAM (p

The Author(s). Published by S. Karger AG, Basel

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PATHOBIOLOGY

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