NPM1 Mutation Analysis – Small Insertion Analysis in Acute Myeloid Leukemia
Nucleophosmin (NPM) is reported as the most frequent mutation in AML, especially in presence of a normal karyotype (~30-50%). NPM is a nuclear-cytoplasm shuttling protein, known to be involved in gene rearrangements in leukemia and lymphoma. NPM in AML is mutated by inserts and deletions within the exon 12 region, encoding a nucleic acid binding domain and the C-terminal export signal of the protein. Normally, NPM is located in the nucleolus and the nuclear membrane. Mutated NPM protein shows an aberrant cytoplasmic localization and has insertion/duplication between tryptophan residues codon 288 and 290. A normal karyotype and a mutated NPM generally predict a good response to induction therapy.
AML with mutated NPM1 is a provision diagnostic category in the 2008 WHO classification for AML.
Loci Tested: NPM1 Insertions between codons 288 and 290
The exon 12 region of the NPM1 gene is amplified in a single PCR reaction using a labeled primer. The amplification yields a characteristic size in normal or wild-type genotype. Insertions which may occur in AML are detected by fragment analysis to detect an altered size in the fragment.
Twice per month
Within 1-3 weeks of receipt
- Peripheral Blood: 3-5 ml, collected in EDTA (purple top) tube, store at room temperature 24 hours
- Bone Marrow: 0.5-1 ml, collected in EDTA (purple top)tube, store at room temperature, 24 hours
- Unacceptable Specimens: Frozen blood or bone marrow specimens are unacceptable as are tissue samples that have undergone a freeze/thaw cycle(s).
Shipment Must Include
- Boissel, N. et al, (2005), Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype, Blood, vol 106(10), pp.3618-3620.