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TP53 mutations and relevance of expression of TP53 pathway genes in paediatric acute myeloid leukaemia
Author(s) -
Cucchi David G. J.,
Bachas Costa,
Klein Kim,
Huttenhuis Sander,
Zwaan Christian M.,
Ossenkoppele Gert J.,
Janssen Jeroen M. W. M.,
Kaspers Gertjan L.,
Cloos Jacqueline
Publication year - 2020
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16229
Subject(s) - myeloid leukaemia , gene , myeloid , cancer research , medicine , mutation , biology , genetics , immunology
Summary 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.