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NPM1 Acquired-Mutation Analysis
Also known as : [Nucleophosmin 1]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology


Specimen Collection

Note: All samples should be forwarded to LabPlus at room temperature within 24hours.


CPD4 mL CPD Blood (Preferred)
CPD4 mL CPD Bone Marrow (Preferred)
EDTA4 mL EDTA Blood
EDTA4 mL EDTA Bone Marrow
Turnaround Time: Within 2 weeks, 4 days
Diagnostic Use and Interpretation

This test detects insertion/deletion mutations in exon 12 of the NPM1 gene. 45% of AML patients have a normal karyotype and of these approximately 60% will have a mutation within the NPM1 gene. These patients may also have a FLT3 mutation and so testing for FLT3 and NPM1 in tandem is recommended. Those patients who DO NOT have a FLT3 mutation but DO have a NPM1 mutation are more likely to have a good response toward treatment.

References:
R G W Verhaak et al., Blood, 2005, 106 (12): 3747.

See also:

FLT3 Mutation Analysis


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital   (09) 307 4949
Lablink   ext 22000
Prof. Peter Browett (Haematologist)     ext 9090-86281
Nikhil Ghallayan (Section Leader)   ext 22006
Molecular Haematology Lab   ext 22005

For more inforamtion about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page




Information on NPM1gene Mutations:

Mutations within the Nucleophosmin (NPM1) gene have been described in patients with acute myeloid leukaemia (AML). Although chromosomal translocations are common in AML there is a significant group of patients (45%) who have a normal karyotype. Of these patients approximately 60% will have a mutation within the NPM1 gene. Patients may also have a FLT3 mutation and so testing for both FLT3 and NPM1 is recommended. Those patients who do not have a FLT3 mutation but do have a NPM1 mutation have a good response toward treatment and a significantly better overall and disease free survival.  

The NPM1 gene mutations described so far all lie with exon 12 and are either insertions of just four bases or insertion/deletions which all result in a frame-shift and elimination of one or both of the c-terminal tryptophan residues.  An exon 12 PCR product is produced for each patient and direct sequencing is used to identify the underlying defect.   

References: 
Falini B. et al. New Eng J Med. 2005;352:254-266. 
Thiede C. et al. Blood. 2006;107:4011-4020.
Grisendi S et al. Nat Reviews. 2006;6:493-505.


Last updated at 11:48:27 18/03/2021