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de Castro CPM, Cadefau M, Cuartero S

The Mutational Landscape of Myeloid Leukaemia in Down Syndrome.

Cancers (Basel) 18 Ago 2021, 13 (16) . Epub 18 Ago 2021
Children with Down syndrome (DS) are particularly prone to haematopoietic disorders. Paediatric myeloid malignancies in DS occur at an unusually high frequency and generally follow a well-defined stepwise clinical evolution. First, the acquisition of mutations in the GATA1 transcription factor gives rise to a transient myeloproliferative disorder (TMD) in DS newborns. While this condition spontaneously resolves in most cases, some clones can acquire additional mutations, which trigger myeloid leukaemia of Down syndrome (ML-DS). These secondary mutations are predominantly found in chromatin and epigenetic regulators-such as cohesin,
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