NPM1 Mutation Status (Accredited)

Programme objective To assess a laboratory’s ability to accurately detect exon 11 NPM1 variant (mutation) status, using molecular methods.

Clinical/scientific background Nucleophosmin (NPM1) 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, variants in exon 11 (historically exon 12) of NPM1 are detected, with over 55 insertion/duplication variants described to date. The most common variant, Type A, a tandem duplication of TCTG is the most prevalent, accounting for 80% of mutated NPM1 cases. Pathophysiologically, exon 11 insertion/duplication variants result in the aberrant localisation of nucleophosmin in the cytoplasm. NPM1 variant status is a prognostic marker in AML, especially useful in cytogenetically normal cases.

Suitability Any DNA/RNA based molecular genetic approach for the detection of exon 11 NPM1 type A duplications.

Sample type/distribution Two lyophilised cell line-based samples are issued three times per annum plus additional samples e.g. low level samples. Trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration Standardly trials for this programme are live/open for a minimum of 4 weeks. Please note, trials issued/closing in August or December are extended by 1 week. An automated email is sent 2 days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas Pre-issue and post-closure testing of samples for this programme are subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.

Updates to the programme for current or upcoming year We continue to issue one educational sample per annum, formulated from whole genome amplified, patient DNA for non-type A NPM1 insertion/duplication analysis.

To register for this programme, please click here.