Claudia Haferlach

TP53 Mutations in Acute Myeloid Leukemia

Mutations of the TP53 gene show a low frequency in overall acute myeloid leukemia (AML). However, they were found at frequencies of 60–80 % in complex karyotype AML, and are strongly associated with therapy-related AML. TP53 mutations are considered to represent a separate functional category independent from the typical class I and class II mutations. The mutations are heterogeneous and are distributed across the TP53 gene with clustering of the mutations in exons 5–8. TP53 mutations confer an adverse prognostic impact in patients with AML. High-throughput sequencing facilities are now available for rapid screening for TP53 mutations at diagnosis of AML aiming to identify patients who may have a benefit from early allogeneic hematopoietic stem cell transplantation or other alternative therapeutic approaches.