Investigation of RET proto-oncogene mutation in patients with medullary thyroid carcinoma / 中华内分泌代谢杂志

ABSTRACT

Objective To detect the mutations of RET proto-oncogene in patients with medullary thyroid carcinoma (MTC). Methods Twelve patients with MTC confirmed by pathology and two clinically suspected patients were recruited. Total genomic DNA was extracted from peripheral blood for PCR. PCR products of exon 10, exon 11 and exon 16 of the RET proto-oncogene were purified and direct gene sequencing was performed. Results The genomic mutations were detected in 8 patients, in which direct gene sequencing analysis detected a mutation of TGC to CGC at codon 618 in exon 10 in 1 patient, a mutation of TGC to TAC at codon 634 in exon 11 in 2 cases, a mutation of TGC to CGC at codon 634 in exon 11 in 3 patients and a mutation of ATG to ACG at codon 918 in exon 16 in the remaiming 2 cases. Conclusion MTC can be diagnosed at gene level by direct gene sequencing analysis. It is possible to diagnose MTC before operation by means of molecular genetic analysis.