Detection of BRAF V600E activating mutation in papillary thyroid carcinoma using PCR with allele-specific fluorescent probe melting curve analysis.

作者: L. R Rowe , B. G Bentz , J. S Bentz

DOI: 10.1136/JCP.2006.040105

关键词:

摘要: Aims: A single hotspot mutation at nucleotide 1799 of the BRAF gene has been identified as most common genetic event in papillary thyroid carcinoma (PTC), with a prevalence 29-83%. The objective this study was to use polymerase chain reaction (PCR) assay molecularly characterize activating point series PTC and benign cases correlate results histologic findings. Methods: Formalin fixed paraffin embedded (FFPE) sections were evaluated for V600E using LightCycler PCR allele-specific fluorescent probe melting curve analysis (LCPCR). Results: total 42 (37 = PTC; 5 benign) surgical tissue samples analyzed mutation. Using LCPCR direct DNA sequencing, 23/37 (62.2%) FFPE samples. sequencing demonstrated confirmation Conclusions: Detection BRAF-activating mutations suggests new approaches management treatment disease that may prove worthwhile. Identification routine pathology by rapid laboratory method such could have significant value.

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