FLT3 Mutation Status (Accredited)

Programme objective To assess a laboratory’s ability to accurately detect FLT3 Internal Tandem Duplications (ITD) mutation (variant) status, using molecular methods.

Clinical/scientific background FLT3 is a member of the platelet-derived growth factor receptor subfamily, with 2 types of variants having prognostic significance in AML. FLT3 ITD result in an in-frame duplication of a region of the juxtamembrane domain, allowing ligand-independent dimerisation of the receptor to occur, leading to activation of the kinase and the downstream signalling pathways. The second type of variants observed in FLT3 are in the tyrosine kinase domain (TKD), with the most common variants affecting p.Asp835/p.Ile836 resulting in amino acid substitution/deletion. Variants affecting these amino acids again lead to ligand-independent dimerisation of the receptor and therefore activation of the kinase and the downstream signalling pathways.

Suitability Any DNA/RNA based molecular genetic approach for the detection of FLT3 ITD variants.

Sample type/distribution Two lyophilised cell line-based samples are issued three times per annum plus additional samples e.g. low level ITD or FLT3 TKD (p.Asp835/p.Ile836) 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 trial distribution, formulated from whole genome amplified, patient DNA for FLT3 TKD (p.Asp835/p.Ile836) analysis.

To register for this programme, please click here.