BRAF p.Val600Glu (V600E) Mutation Status for Hairy Cell Leukaemia (Accredited)

Programme objective To assess a laboratory’s ability to accurately detect the NM_004333.6(BRAF):c.1799T>A p.(Val600Glu) variant.

Clinical/scientific background Publications have shown that all cases of Hairy Cell Leukaemia (HCL) harbour the BRAF p.(Val600Glu) variant. The analysis of BRAF p.(Val600Glu) is therefore a useful tool in the differential diagnosis of mature B-cell neoplasms. HCL consensus guidelines¹ recommend the use of highly sensitive assays as leukaemic cells are often present in peripheral blood samples at levels as low as 2-10%^2-4.

Suitability Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection of the BRAF c.1799T>A p.(Val600Glu) variant in HCL. However, please note that our samples are not suitable for performing cellular enrichment - please contact us if your standard assay incorporates an enrichment step (admin@ukneqasli.co.uk).

All EQA programme communications, data entry, and reports will be conducted exclusively in the English language. Participants must ensure proficiency in English to fully engage in the programme.

The programme welcomes participation from diverse sectors including:

Clinical Healthcare Laboratories
Academic and Research Institutions
In Vitro Diagnostics (IVD) Manufacturers
Pharmaceutical companies

Minimum participation level 30, maximum participation level 400.

Sample type/distribution Two lyophilised cell line-based samples are issued three times per annum. Samples will reflect the range of variant allele burdens observed in clinical samples at diagnosis of HCL. Participants are asked to submit qualitative results together with details of the methodology used. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration Trials for this programme are live/open for a minimum of four weeks. Please note, trials issued/closing in August or December are extended by one week. An automated email is sent two 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 Periodically we give laboratories the option of returning quantitative results. Whilst this allows participants to compare their results with the trial statistics, it is not currently a compulsory part of the programme, nor is it subject to performance monitoring.

References

Grever, M. R. et al. Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia. Blood 129: 553–560 (2017).
Cornfield, D. B. et al. The diagnosis of hairy cell leukemia can be established by flow cytometric analysis of peripheral blood, even in patients with low levels of circulating malignant cells. Am J Hematol 67: 223–226 (2001).
Arcaini, L. et al. The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms. Blood 119(1): 188-91 (2012).
Tiacci, E. et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood 119(1): 192-5 (2012).

To register for this programme, please click here.