NPM1 Mutation Status (Accredited)


Nucleophosmin is a chaperone protein that shuttles rapidly between the nucleus and the cytoplasm but predominately resides in the nucleolus. In approximately 35% of adult AML cases, mutations in exon 11 (historically exon 12) of NPM1 are detected, with over 55 mutations described to date. Mutation A, a tandem duplication of TCTG is the most prevalent accounting for 80% of mutated NPM1 cases. Pathophysiologically, exon 11 frameshift mutations result in the aberrant localisation of nucleophosmin in the cytoplasm. NPM1 mutation status is a prognostic marker in AML, especially useful in cytogenetically normal cases.


In this programme, participants are provided with lyophilised cell-lines or patient derived material for NPM1 exon 11 mutation status analysis. Participants are asked to submit a qualitative result, together with details of the methodology. Instructions for storage, reconstitution, and use of the lyophilised samples are included with the samples. Three send-outs are issued per annum, with each send-out consisting of two samples. NPM1 mutations, if present, should be expected at 'diagnostic' levels, although periodically low level 'MRD' samples may be dispatched as additional educational samples. 


No activities in relation to this EQA programme are subcontracted.


To register for this programme, please click here.

Example NPM1 Mutation Status Report
NPM1 222303 v1.0.0 Report Example.pdf
Adobe Acrobat document [361.4 KB]
NPM1 Mutation Status Performance Monitoring System
Performance Monitoring System for NPM1 M[...]
Adobe Acrobat document [77.6 KB]
NPM1 232403 Cover Letter
Cover letter NPM1 232403.pdf
Adobe Acrobat document [99.4 KB]
Print | Sitemap

Follow Us Online
Facebook Twitter LinkedIn Youtube


Last updated 25/03/2024 © UK NEQAS for Leucocyte Immunophenotyping not to be reproduced in all or part without permission.

This website uses cookies. For more information please click here.

Please click here for our privacy policy.

The UK NEQAS Organisation is a Company Limited by Guarantee (No.3012351) and a Registered UK Charity (No.1044013).