Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome Journal Article
| Authors: | Rosenzweig, J.; Pillai, P. M.; Prockop, S.; Benayed, R.; Eidenschink Brodersen, L.; Najfeld, V.; Loken, M. R.; Zhang, Y.; Shukla, N. |
| Article Title: | 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 intensive than those developed for patients with typical GATA1 mutant ML-DS. © 2022 Rosenzweig et al.; Published by Cold Spring Harbor Laboratory Press. |
| Keywords: | child; preschool child; child, preschool; leukemia; genetics; mutation; leukemia, myeloid, acute; transactivator protein; tumor suppressor proteins; gene fusion; trans-activators; tumor suppressor protein; complication; down syndrome; acute myeloid leukemia; humans; human; mn1 protein, human |
| Journal Title: | Cold Spring Harbor Molecular Case Studies |
| Volume: | 8 |
| Issue: | 3 |
| ISSN: | 2373-2873 |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Date Published: | 2022-04-01 |
| Start Page: | a006167 |
| Language: | English |
| DOI: | 10.1101/mcs.a006167 |
| PUBMED: | 35483876 |
| PROVIDER: | scopus |
| PMCID: | PMC9059786 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 June 2022 -- Source: Scopus |
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