https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Detection of complex genomic signatures associated with risk in plasma cell disorders https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31116 Wed 24 Nov 2021 15:52:49 AEDT ]]> Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20712 Sat 24 Mar 2018 08:06:21 AEDT ]]> Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46592 n = 33). SNP-microarray analysis identified additional aberrations in 97% of patients (32/33) compared to conventional techniques. This changed the genomic risk category of 24% (8/33) of patients. Additionally, 27% (9/33) of patients exhibited a ‘hyperdiploid’ genome, which is generally associated with a good genomic risk and favourable outcomes. An enrichment of IKZF1 deletions was observed with one third of the cohort affected. Our findings suggest the current classification system could be improved and highlights the need to use more sensitive techniques such as SNP-microarray for cytogenomic risk stratification in B-ALL.]]> Fri 25 Nov 2022 15:04:02 AEDT ]]>