The Cancer Genetics and Genomics Laboratory (CGL) at BC Cancer is offering a droplet digital PCR-based assay for rapid detection of the majority of the common 4bp-insertion mutations within NPM1, facilitating the timely treatment with menin inhibitors.
NPM1 will now be included with the FLT3 ITD/TKD rapid mutation test for newly diagnosed patients with Acute Myeloid Leukemia (AML). This testing will automatically be performed for all patients undergoing FLT3 testing. There are no changes to myeloid panel testing.
Most 4bp insertions of NPM1 between positions c.863 and c.864 are detected (including NPM1 Types A, B and D). Other mutations in NPM1 are not targeted but can be detected by the more comprehensive myeloid panel. The myeloid panel is required to identify the specific type of NPM1 mutation. Further details of the methods and the genes and regions covered can be found here for the NPM1 Mutation Screen and found here for the Myeloid Panel.
Rapid AML Mutation panel for NPM1 mutations can be ordered using the CGL Myeloid Requisition found on our Requisitions page. Additional information on this testing can be found in our memo.