HemaMut Human NPM1-A/B/D Mutation Quantitative Detection Kit

Background

NPM1-mutated acute myeloid leukemia (AML) accounts for 28%–35% in adults, 2%–8% in children, and 48%–53% in AML with normal karyotype (NK-AML). Among these, about 40% of NPM1-mutated patients also experienced FLT3-ITD mutations. According to the NCCN and ELN guidelines, NK-AML with NPM1+/FLT3-ITD- or FLT3-ITDlow is classified as favorable prognosis; AML with NPM1+/FLT3-ITD+high is as intermediate prognosis; AML with NPM1-/FLT3-ITDhigh is as adverse prognosis. NPM1, a nucleophosmin gene located on chromosome 5q35.1, is mainly localized in nucleoli but able to shuttle between nucleus and cytoplasm. In terms of molecular structure, NPM1 can be divided into three regions. (Figure 1)
Currently, there are at least 50 different types of NPM1 mutations, with the majority being the insertion of 4 nucleotides at position 863 in Exon12. The primary mutation types include A (c.863_864insTCTG), B (c.863_ins864insCATG), and D (c.863_864insCCTG), accounting for approximately 90%. The remaining 10% consist of rare mutation types.

Figure 1

Detection Process

In this method, RNA is isolated and purified from leukocytes in peripheral blood or bone marrow samples. cDNA is then obtained by reverse transcription to detect three main mutation types (A, B and D) of the NPM1 gene by real-time Q-PCR (Figure 2).

Figure 2

Quantitative Kit Detection Results

Specimen Requirements

Peripheral blood or bone marrow (3–5 mL) is collected in the EDTA tube and stored at 2–8 °C for not more than 5 days. RNA extraction is performed within 5 days.

References

[1] The Journal of Molecular Diagnostics, 2017:S152515781730020X.
[2] LEUKEMIA, 2006, 20(6):1103-1108.
[3] NCCN Guidelines Version 3.2019 Acute Myeloid Leukemia

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