Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome.
Cold Spring Harb Mol Case Stud
; 8(3)2022 04.
Article
em En
| MEDLINE
| ID: mdl-35483876
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 intensive than those developed for patients with typical GATA1 mutant ML-DS.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
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Leucemia Mieloide Aguda
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Síndrome de Down
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Proteínas Proto-Oncogênicas c-ets
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article