The MYD88 p.Leu265Pro (p.L265P) variant dound is found in >90% of Lymphoplasmacytic Lymphoma (LPL) patients; however it is not specific to LPL nor required for diagnosis. Patients without the variant have an adverse prognosis and lower response to ibrutinib thus testing for the variant is important from a prognosis and treatment standpoint. Minimal Residula Disease (MRD) testing has also been shown to be highly predictive of relapse in WM (García-Sanz, 2011).
One sample will be issued per round (1 round per year) and participants will be expected to test using their in house strategy for MYD88 L265P detection and report the MYD88 p.Leu265Pro mutation status (mutation detected/no mutation detected). Participants may also return quantitative data.
The programme may be expanded to feature other pathogenic intragenic and/or regulatory element changes such as point mutations, small insertion, deletion and duplications events in other genes as they become clinically relevant. However, participants will not be requested to report larger changes affecting genom architecture or copy number changes (>50kb).