Targeted Sequencing identifies patients with pre-clinical MDS at high risk of disease progression

ABSTRACT: The diagnosis of myelodysplastic syndromes (MDS) remains problematic due to the subjective nature of morphological assessment. The reported high frequency of somatic mutations and increased structural variants by array-based cytogenetics have provided potential objective markers of disease however this has been complicated by reports of similar abnormalities in the healthy population. We aimed to identify distinguishing features between those with early MDS and reported healthy individuals by characterising 69 patients who, following a non-diagnostic marrow, developed progressive dysplasia or acute myeloid leukaemia (AML). Targeted sequencing and array based cytogenetics identified a driver mutation and/or structural variant in 91% (63/69) of pre-diagnostic samples with the mutational s

ORGANISM(S): Homo sapiens

SUBMITTER: Catherine Cargo 

PROVIDER: E-GEOD-73074 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress