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Nucleophosmin (NPM1) Gene Mutation Studies
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General
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Clinical Use:
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NPM1 mutations are identified in ~35% of AML cases where they are associated with
normal/intermediate risk karyotype. AML with NPM1 mutation is a distinct entity according to WHO
2022 and ICC 2022 and is classified as either favourable risk (absence of co-occurring FLT3 ITD) or
intermediate risk (with co-occurring FLT3 ITD) according to ELN 2022 genetic risk stratification
guidelines. NPM1 is an appropriate marker for measurable residual disease (MRD) monitoring.
There are two types of NPM1 testing available. All specimens for NPM1 testing should be referred to
the molecular haematology laboratory at FSH for triage:
Local PathWest NPM1 mutation studies: Performed at diagnosis and relapse.
NPM1 MRD: Referred to Alfred Pathology (following sample processing in the molecular laboratory). Samples must be received within 48 hours of collection. |
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Availability:
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Local NPM1 studies batched to twice per week.
NPM1 MRD samples referred to Alfred Pathology once per week following processing in the molecular haematology laboratory. |
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Aliases/Synonyms:
| NPM, NPM1, NPMI MRD, |
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Code:
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HNPM1 |
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Handling Instructions (to laboratory):
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Send sample ambient.
Sample must reach laboratory within 48 hours of collection. |
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Hyperlink:
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Reference Interval:
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Results for NPM1 mutation studies are reported as detected, not detected or a minor population of cells carrying the mutation was detected. A final report summary provides comment on the combined prognostic impact of the mutations detected.
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Collection Requirements
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Container:
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EDTA (LAV9), |
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Sample Type:
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Blood; Bone Marrow. For other specimen types, please contact the laboratory on (08) 6152 8118 to discuss. |
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Minimum Collection Volume:
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Collection Instructions:
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Regional Services: Collect sample Monday-Thursday only. Do not collect prior to public holidays. |
Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature. |
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Minimum Assay Volume:
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4mL Blood; 1mL Bone Marrow |
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Stability:
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48 hours ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient.
Please contact the testing laboratory to inform them prior to collecting or sending the sample on a Friday. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular |
Haematology |
Fiona Stanley Hospital |
6152 8118 |
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Last Updated : 15-04-2025 09:50 |