Waldenstrom’s Macroglobulinemia

MYD88 L265P Variant

The MYD88 p.Leu265Pro variant has been reported in 91% of patients with Waldenstrom’s Macroglobulinemia (Treon 2012 NEJM 367: 826-833).  The MYD88 p.Leu265Pro variant has also been reported in splenic marginal zone lymphoma (15%) (Martinz-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 leukemia (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 Waldenstrom’s Macroglobulinemia. However, the use of this variant for diagnostic purposes MUST be interpreted in combination with clinical and morphologic features.

Uncertainty of measurement for the assay is available upon application to the laboratory

Laboratory contact: Dr Caroline Wickham 01392 408252 caroline.wickham@nhs.net

Clinical contact: Dr Paul Kerr 01392 402917 paul.kerr1@nhs.net