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TP53 mutations and relevance of expression of TP53 pathway genes in paediatric acute myeloid leukaemia

British Journal of Haematology Oct 11, 2019

Cucchi DGJ, Bachas C, Klein K, et al. - Given the availability of insufficient data regarding the incidence and influence of TP53 changes and TP53 pathway deregulation in paediatric acute myeloid leukaemia (AML), researchers performed this study on 229 patients with de novo paediatric AML, focusing on TP53 mutations and significance of expression of TP53 pathway genes in these cases. In bone marrow samples from these patients, they analyzed TP53 changes and detected heterozygous missense exon mutations and 17p deletions of the TP53 gene in two patients (1%) and in four patients (2%), respectively. They more often found the presence of complex karyotype or adverse cytogenetic abnormalities, including complex karyotype, in these patients vs TP53 wild-type. Poor survival was reported in relation to differential expression of TP53 pathway genes, this suggests a role for TP53 regulators and effector genes.
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