Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinaemia (Accredited)

Programme objective To assess a laboratory’s ability to accurately detect MYD88 p.Leu265Pro variant status, using molecular methods.

Clinical/scientific background The MYD88 p.Leu265Pro (L265P) variant is found in >90% of lymphoplasmacytic lymphoma (LPL) patients, however, it is not specific to LPL, nor required for diagnosis. In a substantial subset of patients with LPL (~95%), the clinical features of disease include the presence of an IgM monoclonal gammopathy, indicative of Waldenstrӧm Macroglobulinaemia (WM).

MYD88 is a signalling protein, involved in the NF-Κß cascade. The presence of the MYD88 p.Leu265Pro (L265P) variant results in constitutive activation of the signalling cascade, promoting cellular survival and oncogenesis. Bruton Tyrosine Kinase (BTK) inhibitors, such as Ibrutinib, have been shown to be effective in the treatment of WM due to inhibition of the NF-Κß cascade downstream of MYD88. Patients without the MYD88 p.Leu265Pro variant have an adverse prognosis and lower response to Ibrutinib, thus testing for the variant is important from a prognostic and therapeutic standpoint (Treon et al., 2018).

Suitability Participation in this External Quality Assessment (EQA) programme is open to laboratories employing any DNA/RNA-based molecular genetic approach for the detection the MYD88 p.Leu265Pro variant.

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 twice per annum. The 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.

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 This programme has now achieved ISO 17043:2010 accreditation. Formal performance monitoring has now been introduced and the number of trial issues will increase from two to three.

To register for this programme, please click here.