Signature® NPM1 Mutations
Acute myeloid leukemia (AML) is clinically, cytogenetically, and molecularly heterogeneous1. The gene rearrangements or mutations associated with AML and their relative frequency of occurrence are represented in Figure 12.
Among these, nucleophosmin (NPM1) gene mutations represent the single most common genetic alteration in adult de novo AML. These gene mutations occur in exon 12 in up to 60% of AML with normal karyotype (AML-NK). Therefore, a reliable molecular method is necessary for accurate identification of the NPM1 mutations.
Asuragen introduces Signature® NPM1 Mutations (RUO)†, a sensitive molecular assay for the simultaneous detection of the most common NPM1 mutations in exon 12 (A, B, and D; see Table 1), utilizing multiplex RT-PCR followed by multiplex detection on the Luminex® 100 IS™ or 200™ System. NPM1 wild type is utilized as an internal endogenous control.
Table 1: Signature® NPM1 Mutations (RUO)† detects approximately 85-95% of known NPM1 exon 12 mutations3,4.
Preliminary research data is represented in Table 2 below. In this study, mutation A, B, or D in vitro transcripts, ranging from 2,000 to 2 million copies, are spiked into 400 ng HL-60 cell line RNA. These mutation-positive samples, along with a no template control (NTC) and HL-60 RNA which mimics mutation-negative samples, were then run on the Signature® NPM1 Mutations (RUO) assay. NPM1 Wild Type (WT) is co-amplified and detected along the mutations A (mA), B (mB) and D (mD), and is utilized as an internal endogenous control.
Qualitative results are measured by mean fluorescent intensity (MFI). A sample is considered positive for a specific target (mA, mB and/or mD) with MFI greater than or equal to 400. A sample is considered not detected with MFI less than 400 for mA, mB, and/or mD and a WT MFI greater than or equal to 1,000.
Signature NPM1 Mutations (RUO)† (P/N 46072) 24 Reactions
Related Products
- Signature RT Reagents (P/N 46049) 96 Reactions
- Signature DNA Amp Reagents (P/N 46050) 96 Reactions
- Signature Hyb Reagents (P/N 46051) 96 Reactions
References:
1Graham, Kelly J. “Understanding AML: The genetics and mechanics behind acute myeloid leukemias are better understood, but challenges in treatment remain.” Advance. 17.7 (July 2008): 68-76.
2Falini et al. “Acute Myeloid Leukemia Carrying Cytoplasmic/Mutated Nucleophosmin (NPMC+ AML): biologic and Clinical Features.” Review in Translational Hematology. (2007) 109(3):874-895.
3Reneville et al. “Cooperating gene mutations in acute myeloid leukemia: a review of the literature.” Leukemia (2008) 22:915-931.
4Thiede et al. “Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML).” Blood (2006) 107:4011-4020.
†For Research Use Only. Not for Use in Diagnostic Procedures
*Preliminary research data, the performance characteristics of this assay are not yet established.
