Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome.

ABSTRACT: Myeloid leukemia of Down syndrome (ML-DS) in young children is associated with distinct clinical and biological features and is typically initiated with oncogenic mutations in the X-linked megakaryocytic transcription factor GATA1. Here we present a 3-yr-old child with DS diagnosed with acute myeloid leukemia (AML), which lacks typical immunophenotypic and molecular characteristics of ML-DS, including GATA1 mutations. The leukemic blasts were found to have an MN1-ETV6 gene fusion, a high-risk oncofusion not previously described in DS patients. This report highlights the importance of immunophenotypic, cytogenetic, and molecular characterization of ML-DS for identification of rare cases with unique features that may benefit from treatment protocols that are more intensi

SUBMITTER: Rosenzweig J 

PROVIDER: S-EPMC9059786 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature