What is MYD88 Mutation?

The MYD88 mutation, specifically L265P (c.794T>C), is a point mutation in the myeloid differentiation primary response 88 gene. It plays a crucial role in various B-cell lymphoproliferative disorders, particularly Waldenström Macroglobulinemia (WM) and Non-Hodgkin Lymphoma (NHL). The presence of this mutation is a valuable biomarker, offering diagnostic, prognostic, and therapeutic insights. Its detection is vital in clinical workflows involving molecular diagnostics.

Role of MYD88 Mutation in Disease

The MYD88 L265P mutation is detected in over 90% of WM cases and is also present in subtypes of Diffuse Large B-Cell Lymphoma (DLBCL), Chronic Lymphocytic Leukemia (CLL), and primary vitreoretinal lymphomas. This mutation activates downstream signaling pathways such as NF-κB, promoting cell survival and proliferation. As a result, MYD88 mutation status can influence both prognosis and treatment response. Notably, targeted therapies like BTK inhibitors (e.g., ibrutinib) show higher efficacy in MYD88-mutant cases.

About the TRUPCR® MYD88 Mutation Detection Kit

The TRUPCR® MYD88 Mutation Detection Kit is a CE-IVD marked, in vitro diagnostic assay intended for the qualitative detection of the L265P mutation in the MYD88 gene from a range of sample types including fresh, frozen, and formalin-fixed paraffin-embedded (FFPE) tissue, as well as bone marrow and peripheral blood. The kit is designed for use in molecular diagnostic laboratories and supports clinicians in patient stratification for WM, LPL, and NHL.

Principle and Workflow

The assay is based on Amplification-Refractory Mutation System (ARMS) PCR, which ensures high specificity by exploiting the DNA polymerase’s ability to discriminate between matched and mismatched bases at the 3’-end of primers. The kit performs a multiplex PCR in a single tube, using fluorescent probes labeled with FAM (to detect the L265P mutation) and VIC/HEX (for internal reference).

The TRUPCR® kit includes all PCR components such as mastermix and a positive control for assay validation. With a sensitivity as low as 0.5% mutant allele frequency, it ensures accurate detection even in heterogeneous tumor samples.

Clinical Application

Detection of the MYD88 L265P mutation helps confirm the diagnosis of WM and differentiate it from other B-cell lymphomas. In addition to diagnosis, mutation status assists in therapeutic decision-making, particularly with the use of targeted agents like ibrutinib. The test is suitable for routine use in clinical laboratories and contributes significantly to personalized oncology care.

The TRUPCR® MYD88 Mutation Detection Kit supports efficient laboratory workflows by combining accuracy with ease of use and fast turnaround times, making it a valuable tool in hematology-oncology diagnostics.