Haferlach C et al. – A high incidence of TP53 mutations is confirmed in acute myeloid leukemia (AML) with a complex aberrant karyotype (29/42, 69% ); these mutations are very rare in AML without a complex aberrant karyotype (4/193, 2.1%) Methods
Analysis of the incidence of TP53 mutations and deletions in 107 AML cases with complex aberrant karyotype
Subsquent analysis of TP53 mutations in a cohort of AML comprising different cytogenetic subgroups
Results
In 50 of 57 cases with loss of 1 TP53 allele, the remaining allele had TP53 mutation
In 33 of 50 cases with 2 TP53 copies, a TP53 mutation was found
Frequency of TP53 mutations in AML with complex aberrant karyotype was 78%
In second analysis, 33 of 235 cases (14%) had TP53 mutations; coincidences with other molecular mutations were rare
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