Nucleophosmin (NPM1) Mutation Analysis
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Acute myelogenous leukemia (AML) is a heterogenous group of neoplasms. While cytogenetic aberrations detected at the time of diagnosis are the most commonly used prognostic feature, approximately 20% of AML cases show a normal karyotype, which is considered an intermediate-risk feature. Within this group, FLT3 mutations are considered indicators of poor prognosis. However, in the absence of a FLT3 mutation, the presence of a nucleophosmin (NPM1) mutation is associated with a more favorable prognosis. Thus, in patients with newly diagnosed AML, those with normal karyotype, no FLT3 mutation, and a NPM1 mutation are considered to have a better prognosis than patients in the same group with neoplasms lacking a NPM1 mutation.
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 mutation
The assay will be interpreted as positive, low positive, or negative for the NPM1 mutation. In patients with newly diagnosed acute myelogenous leukemia, a normal karyotype, and no FLT3 mutation, the presence of NPM1 mutation is an indicator of a more favorable prognosis.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This is a qualitative test and is designed to be used at the time of diagnosis when the mutation burden is high. The analytical sensitivity (approximately 5% mutated alleles) is not adequate for monitoring patients during therapy as a test of minimal residual disease.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Clinical References Provides recommendations for further in-depth reading of a clinical nature
1. Thiede C, Koch S, Creutzig E, et al: Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML). Blood 2006;107:4011-4020
2. Falini B, Mecucci C, Tiacci E, et al: Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 2005;352(3):254-266