MYD88 L265P Mutation Detection by PCR, Quantitative

Last Literature Review: July 2026 Last Update:
  • Useful in distinguishing LPL from other low-grade B-cell lymphoproliferative disorders that may be in the differential diagnosis
  • Use when monitoring patients with LPL and previously identified MYD88 L265P mutation
  • Performed on whole blood and bone marrow
  • Quantitation of MYD88 L265P mutant alleles
  • Useful in distinguishing LPL from other low-grade B-cell lymphoproliferative disorders that may be in the differential diagnosis
  • Use when monitoring patients with LPL and previously identified MYD88 L265P mutation
  • Performed on fresh tissue or formalin-fixed, paraffin-embedded (FFPE) tissue
  • Quantitation of MYD88 L265P mutant alleles

The MYD88 L265P mutation has been identified in the majority of patients with Waldenström macroglobulinemia and lymphoplasmacytic lymphoma (LPL) and is useful in differentiating LPL from other low-grade B-cell lymphoproliferative disorders that may be considered in the differential diagnosis. MYD88 L265P mutation detection assists in determining treatment options and monitoring disease progression in individuals with LPL and a previously identified MYD88 L265P mutation. , , 

Disease Overview

Prevalence

3-4/million; mostly affects older individuals , 

Diagnostic/Treatment Issues

MYD88 L265P mutations are present in the majority of LPL cases:

  • Includes Waldenström macroglobulinemia
  • Mutation also detected in a low percentage of individuals with chronic lymphocytic leukemia (CLL) and in as many as 30% of patients with diffuse large B-cell lymphoma (DLBCL) 

Genetics

Gene

MYD88

Test Interpretation

Analytic Sensitivity

0.5% mutant allele

Results

  • Detected: MYD88 L265P mutation detected
    • Quantitated as a percentage of MYD88 L265P mutant allele
    • Strongly supports a diagnosis of LPL in the presence of appropriate clinical and histological setting
  • Not detected: No mutation detected

Limitations

  • Does not detect mutations in other regions of the MYD88 gene
  • Does not detect MYD88 codon 265 mutations other than L265P
    • Does not detect MYD88 L265P mutations below the limit of detection of this assay
  • Results of this test must be interpreted in the context of morphological and other relevant data
  • Test should not be used alone to diagnose malignancy

References