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

David G. J. Cucchi, Costa Bachas, Kim Klein, Sander Huttenhuis, Christian M. Zwaan, Gert J. Ossenkoppele, Jeroen M. W. M. Janssen, Gertjan L. Kaspers, Jacqueline Cloos

Research output: Contribution to journalArticleAcademicpeer-review


Limited data are available on the incidence and impact of TP53 alterations and TP53 pathway deregulation in paediatric acute myeloid leukaemia (AML). We analysed TP53 alterations in bone marrow samples of 229 patients with de novo paediatric AML, and detected heterozygous missense exon mutations in two patients (1%) and 17p deletions of the TP53 gene in four patients (2%). These patients more frequently had complex karyotype (50% vs. 4%, P = 0·002) or adverse cytogenetic abnormalities, including complex karyotype (67% vs. 17%, P = 0·013), compared to TP53 wild-type. Differential expression of TP53 pathway genes was associated with poor survival, indicating a role for TP53 regulators and effector genes.
Original languageEnglish
Pages (from-to)736-739
Number of pages4
JournalBritish Journal of Haematology
Issue number5
Early online date6 Oct 2019
Publication statusPublished - 1 Mar 2020

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