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

Autor:	Rosenzweig J; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA., Pillai PM; Department of Pediatrics, Division of Pediatric Hematology-Oncology, Mount Sinai Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Prockop S; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA., Benayed R; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA., Eidenschink Brodersen L; Hematologics, Inc., Seattle, Washington 98121, USA., Najfeld V; Department of Medicine and Pathology, Tumor Cytogenomics, Icahn School of Medicine at Mount Sinai Hospital, New York, New York 10029, USA., Loken MR; Hematologics, Inc., Seattle, Washington 98121, USA., Zhang Y; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA., Shukla N; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Apr 28; Vol. 8 (3). Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
DOI:	10.1101/mcs.a006167
Abstrakt:	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. (© 2022 Rosenzweig et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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