Test Catalog

Test ID: MYD88    
MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia


Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The single point alteration in MYD88, L265P, is present in 67% to 100% of patients with lymphoplasmacytic lymphoma, and these patients typically have clinical manifestations of Waldenstrom macroglobulinemia (often designated LPL/WM).

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Variant present or absent based on expected alteration polymerase chain reaction product size. Concurrent amplification of wild type MYD88 fragment determined for sample amplification integrity. MYD88 gene (NCBI accession NM_002468.4).

Interpretation Provides information to assist in interpretation of the test results

Variant present or not detected; an interpretive report will be issued.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is a targeted assay and will not detect any alteration at the MYD88 codon 265 that does not result in the L>P (leucine to proline) amino acid change. It will also not detect additional MYD88 alterations, including insertion or deletion events. The analytical sensitivity of the assay (1% MYD88 L265P in a wild-type background) can be affected by a variety of factors, including biologic availability (ie, tumor burden), fixation of paraffin-embedded specimens, or nonspecific polymerase chain reaction interferences. Rare cases of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) have been reported lacking the MYD88 L265P abnormality, so a negative result would not completely exclude this diagnosis but would make the possibility of LPL/WM more unlikely.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Treon SP, Xu L, Yang G, et al: MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med. 2012;367:826-833

2. Varettoni M, Arcaini L, Zibellini S, et al: Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood. 2013;121:2522-2528

3. Xu L, Hunter ZR, Yang G, et al: MYD88 L265P in Waldenstrom macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction. Blood. 2013:121;2051-2058

4. Poulain S, Roumier C, Decambron A, et al: MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood. 2013:121;4504-4511

5. Gachard N, Parrens M, Soubeyran I, et al: IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenstrom macroglobulinemia/lymphoplasmacytic lymphomas. Leukemia. 2013;27:183-189

6. Ondrejka SL, Lin JJ, Warden DW, Durkin L, Cook JR, His ED: MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders. Am J Clin Pathol. 2013;140:387-394

Special Instructions Library of PDFs including pertinent information and forms related to the test