RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.

Abstract

Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related… (More)
DOI: 10.1002/hon.2287

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