Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinaemia (Pilot - Not Accredited)

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).

For this programme, participants are provided with lyophilised cell line based EQA material for MYD88 p.Leu265Pro variant analysis. Participants are required to test the lyophilised material and to submit qualitative results, together with details of methodology. Instructions for storage, reconstitution and use of the lyophilised samples are provided with trial distributions. Two trials are issued per annum, with each trial consisting of two samples. The programme is qualitative; however, optional quantitative information (variant allele frequency) may also be submitted for educational purposes.

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

To register for this programme, please click here.