MYD88 p.(Leu265Pro) Variant

The MYD88 p.(Leu265Pro) variant has been reported in 91% of patients with Waldenström’s Macroglobulinaemia (Treon 2012 NEJM 367: 826-833). The MYD88 p.(Leu265Pro) variant has also been reported in splenic marginal zone lymphoma (15%) (Martinez-Lopez 2015 Am J Surg Pathol 39(5) 644-51), activated B-cell-type diffuse large B-cell lymphoma (14%-29%), primary central nervous system lymphoma (33%), mucosa-associated lymphoid tissue lymphoma (9%), chronic lymphocytic leukaemia (2.9%) (Yang 2013 Blood 122 (7): 1222-1232), primary cutaneous large B-cell lymphoma, leg type (61%) (Pham-Ledard 2014 Modern Pathology 27: 402-411) and vitreoretinal diffuse B-cell lymphoma (Bonzheim 2015 126 (1) 76-79).

MYD88 p.(Leu265Pro) variant analysis can therefore be used as a tool in the differential diagnosis of Waldenström’s Macroglobulinaemia. However, MYD88 p.(Leu265Pro) variant data MUST be interpreted in combination with clinical and morphologic features.

MYD88 p.(Leu265Pro) variants are detected, quantified and may be monitored using droplet digital PCR (ddPCR) which has a sensitivity of 0.3%.

Laboratory contact: Dr. Caroline Wickham 01392 408248 caroline.wickham@nhs.net
Clinical contact: Dr. Paul Kerr 01392 402917 paul.kerr1@nhs.net

The laboratory participates in the NEQAS MYD88 p.(Leu265Pro) EQA scheme. Uncertainty of measurement for the MYD88 p.(Leu265Pro) ddPCR assay is available upon application to the laboratory.