TY - JOUR
T1 - TP53 mutations and relevance of expression of TP53 pathway genes in paediatric acute myeloid leukaemia
AU - Cucchi, David G. J.
AU - Bachas, Costa
AU - Klein, Kim
AU - Huttenhuis, Sander
AU - Zwaan, Christian M.
AU - Ossenkoppele, Gert J.
AU - Janssen, Jeroen M. W. M.
AU - Kaspers, Gertjan L.
AU - Cloos, Jacqueline
PY - 2020/3/1
Y1 - 2020/3/1
N2 - 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.
AB - 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.
KW - RRM2B
KW - TP53
KW - acute myeloid leukaemia
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85073975759&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31588562
U2 - https://doi.org/10.1111/bjh.16229
DO - https://doi.org/10.1111/bjh.16229
M3 - Article
C2 - 31588562
SN - 0007-1048
VL - 188
SP - 736
EP - 739
JO - British journal of haematology
JF - British journal of haematology
IS - 5
ER -