AML mutational analysis profile
Acute myelogenous leukemia (AML)
Polymerase chain reaction (PCR), Gene amplification of NPM1 (exon 12) with fluorescently-labeled primers followed by detection with capillary electrophoresis
* Testing for NPM1 and FLT3 will be performed at Laboratory for Personalized Molecular Medicine (LabPMM.com) of San Diego, California pursuant to patents licensed from Takara Bio of Otsu, Japan.
5.0 mL (min. 3.0 mL) whole blood, 3.0 mL (min. 2.0 mL) bone marrow; Heparin EDTA or ACD.
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.) Do not freeze
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days; Specimen frozen
NPM1: Negative, Positive
Indications for Testing are: At initial diagnosis of AML; Stratifying high and low risk AML; Recurrence of leukemia after induction therapy on patients not initially screened for NPM1 mutations.
Nucleophosmin member 1 (NPM1) mutations in exon 12 are found in ~50% of cytogenetically normal AML patients. The mutations result in aberrant cellular localization of the protein. When present in cytogenetically normal AML patients and negative for FLT3 mutations, NPM1 mutations are associated with a favorable prognosis. NPM1 mutations do not impact the poor outcome of patients with FLT3-ITD.