Detection of MYD88L265P Mutation by Allele-Specific Polymerase Chain Reaction in Atypical Lymphoplasmacytic Lymphoma

Herein, we report a case of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia that presented with atypical bone marrow morphology and rapid clinical deterioration. Despite inconclusive flow cytometry findings and negative results for MYD88 L265P mutation via both next-generation and Sanger sequencing, allele-specific polymerase chain reaction ultimately detected the mutation and confirmed the diagnosis. This case emphasizes the role of highly sensitive molecular techniques when evaluating low-tumor-burden or morphologically atypical lymphoid neoplasms.