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Signature NPM1 Mutations
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Signature® NPM1 Mutations (RUO)*
Acute myeloid leukemia (AML) is clinically, cytogenetically, and molecularly heterogeneous
1. The gene rearrangements or mutations associated with AML and their relative frequency of occurrence are represented in Figure 1
2.
Figure 1: Gene rearrangements and mutations associated with AML2
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, D, and J; 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 RNAs prepared by
in vitro transcription, ranging from 2,000 to 2 million copies, were 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 analyzed with the Signature® NPM1 Mutations (RUO) assay. NPM1 Wild Type (WT) was co-amplified and detected along the mutations A (mA), B (mB) and D (mD) as an internal endogenous control.
Table 2: Evaluation of Signature® NPM1 Mutations’ Analytical Sensitivity*.
Qualitative results are measured by mean fluorescent intensity (MFI). A sample is considered positive for a specific target (mA, mB. mD, and/or mJ) with MFI greater than or equal to 400. A sample is considered not detected with MFI less than 400 for mA, mB, mD, and/or mJ and a WT MFI greater than or equal to 1,000. The kit includes positive and negative controls and reagents for 24 reactions.
Signature NPM1 Mutations (RUO)† (P/N 46072) 24 Reactions
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References:
1Schlenk et al. “Mutations and Treatment Outcome in Cytogenetically Normal Acute Myeloid Leukemia.” The New England Journal of Medicine (2008) 358(18):1909-1918
2Falini et al. “Acute Myeloid Leukemia Carrying Cytoplasmic/Mutated Nucleophosmin (NPMC+ AML): biologic and Clinical Features.” Review in Translational Hematology. (2007) 109(3):874-885.
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.
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