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NPM1 Mutation Analysis*

Test Code

M NPM1*

Test Synonyms

AML mutational analysis profile

Associations

Acute myelogenous leukemia (AML)

Reflex testing
NPM1 is ordered as part of the AML mutational profile. A negative result for both FLT3 and NPM1 will automatically reflex to CEBPA mutation analysis [CEBPA]
Methodology

Polymerase chain reaction (PCR), Gene amplification of NPM1 (exon 12) with fluorescently-labeled primers followed by detection with capillary electrophoresis

* Testing for NPM1 and FLT3 will be performed at Laboratory for Personalized Molecular Medicine (LabPMM.com) of San Diego, California pursuant to patents licensed from Takara Bio of Otsu, Japan.

Turnaround Time

10-14 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood, 3.0 mL (min. 2.0 mL) bone marrow;  Heparin EDTA or ACD.

Specimen Stability
Stable at 4°C and 18-25°C for 1 week
Storage & Handling

Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.) Do not freeze

Causes for Rejection

Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days; Specimen frozen

Reference Range

NPM1: Negative, Positive

Description

Indications for Testing are: At initial diagnosis of AML; Stratifying high and low risk AML;  Recurrence of leukemia after induction therapy on patients not initially screened for NPM1 mutations.

Nucleophosmin member 1 (NPM1) mutations in exon 12 are found in ~50% of cytogenetically normal AML patients. The mutations result in aberrant cellular localization of the protein. When present in cytogenetically normal AML patients and negative for FLT3 mutations, NPM1 mutations are associated with a favorable prognosis. NPM1 mutations do not impact the poor outcome of patients with FLT3-ITD.

References
  1. Acute Myeloid Leukemia, Clinical Practice Guidelines in Oncology, (V.1.2010) National Comprehensive Cancer Network.
  2. Wertheim G, et al. (2008) Nucleophosmin (NPM1) mutations in acute myeloid leukemia: an ongoing (cytoplasmic) tale of dueling mutations and duality of molecular genetic testing methodologies. J Mol Diagn 10(3):198-202.
  3. Mrozek K et al. (2007). Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood. 109:431-448.
  4. Baldus C et al. (2007). Clinical outcome of de novo acute myeloid leukemia patient with normal cytogenetics is affected by molecular genetic alterations: a concise review. Br. J. Haematol. 137:387-400.