title: Development of high-resolution melting analysis for the detection of the MYD88 L265P mutation.
abstract: 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.
  
  
  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.
authors.affiliation: Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, PR China.
authors.forename: Cui-Zhu
authors.initials: CZ
authors.lastname: Wang
authors.forename: Jiang
authors.initials: J
authors.lastname: Lin
authors.forename: Jun
authors.initials: J
authors.lastname: Qian
authors.forename: Rui
authors.initials: R
authors.lastname: Shao
authors.forename: Di
authors.initials: D
authors.lastname: Xue
authors.forename: Wei
authors.initials: W
authors.lastname: Qian
authors.forename: Gao-Fei
authors.initials: GF
authors.lastname: Xiao
authors.forename: Zhao-Qun
authors.initials: ZQ
authors.lastname: Deng
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Xing-Xing
authors.initials: XX
authors.lastname: Chen
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000175:diagnosis / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics*; D012680:Sensitivity and Specificity; D044366:Transition Temperature
chemical_list: C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88