OBJECTIVE: Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MYD88) has been identified in a proportion of diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia. The present study aimed to establish a rapid, sensitive, and reliable method using high-resolution melting analysis (HRMA) to detect MYD88 L265P mutation in DLBCL. DESIGNS AND METHODS: The sensitivity of HRMA in the detection of MYD88 L265P mutation was evaluated. MYD88 L265P mutation was further screened in 120 patients with DLBCL. The results of HRMA were validated by direct DNA sequencing. RESULTS: For the detection of MYD88 L265P mutation, the reproducible maximal sensitivity of HRMA was 5% higher than that obtained by direct DNA sequencing (25%). Heterozygous MYD88 L265P mutations were identified in 11 (9.2%) DLBCL cases, all of which were diagnosed as non-germinal-center B cell (non-GCB) DLBCL. CONCLUSIONS: The HRMA assay is a rapid, sensitive, reliable, and high-throughput method to screen MYD88 L265P mutation and could be used in clinical diagnostic laboratories.
OBJECTIVE: Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MYD88) has been identified in a proportion of diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia. The present study aimed to establish a rapid, sensitive, and reliable method using high-resolution melting analysis (HRMA) to detect MYD88L265P mutation in DLBCL. DESIGNS AND METHODS: The sensitivity of HRMA in the detection of MYD88L265P mutation was evaluated. MYD88L265P mutation was further screened in 120 patients with DLBCL. The results of HRMA were validated by direct DNA sequencing. RESULTS: For the detection of MYD88L265P mutation, the reproducible maximal sensitivity of HRMA was 5% higher than that obtained by direct DNA sequencing (25%). Heterozygous MYD88L265P mutations were identified in 11 (9.2%) DLBCL cases, all of which were diagnosed as non-germinal-center B cell (non-GCB) DLBCL. CONCLUSIONS: The HRMA assay is a rapid, sensitive, reliable, and high-throughput method to screen MYD88L265P mutation and could be used in clinical diagnostic laboratories.
Authors: Niklas Gebauer; Veronica Bernard; Claudia Röhner; Manuela Krokowski; Hartmut Merz; Alfred C Feller; Christoph Thorns Journal: Ann Lab Med Date: 2014-02-13 Impact factor: 3.464