Research Study of Acute Myeloid Leukemia sample shows pre-existing TP53 mutation via Ion Torrent Proton, Ion AmpliSeq AML Research Panel v1, and QuantStudio 3D Digital PCR

In a recently published letter in the Annals of Hematology, Heinz Sill and collaborators at the Medical University of Graz, Austria report research on frequent mutations in the TP53 gene in archived neoplasm samples from treated subjects. The possibility they set out to explore is the presence of pre-existing mutations contributing to later leukemic transformation of hematopoietic stem cells in some individual samples.

They identified a heterozygous 64 base-pair duplication, and then by using the Ion Proton™ System and the Ion PI™ Chip with an early version of the Ion AmpliSeq™ AML Research Panel (which we’ve highlighted recently) they examined other AML-related genes for any cooperating mutations.

To demonstrate the expansion of the TP53 mutated clone compared to wild-type BRAF gene copies, they applied digital PCR using the QuantStudio 3D^® Digital PCR System.

Reference:

Schulz, E. and Sill, H. et al. Ann Hematol 2014 “Preexisting TP53 mutation in therapy-related acute myeloid leukemia”. DOI: 10.1007/s00277-014-2191-0