TEST NAME
– NPM1 Mutation
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ABOUT TEST
– Nucleophosmin (NPM1) is associated with nucleolar ribonucleoprotein structures and binds single-stranded nucleic acids. It is involved in the biogenesis of ribosomes and may assist small basic proteins in their transport to the nucleolus. Chromosomal aberrations involving NPM1 were found in patients with non-Hodgkin lymphoma, acute promyelocytic leukemia, myelodysplastic syndrome, and acute myelogenous leukemia. It has been found in the cytoplasm in patients with primary acute myelogenous leukemia.
NPM mutation consists of small insertions that alter the reading frame of translation at the C-terminus of NPM1. As a result, a nucleolar localization motif is lost and a nuclear export signal is gained in the new reading frame of translation, causing delocalization of the NPM1 protein into the cytoplasm. NPM1 mutations are thought to be an early event in leukemiagenesis, and once present, appear stable.
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GENES TESTED
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SAMPLE REQUIREMENTS
– EDTA
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TAT
– 17
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Related Tests
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