Gene test of RET-proto-oncogene in a Chinese family of multiple endocrine neoplasia type 2

Abstract

Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2(MEN2)family for confirming the diagnosis and classification, guiding treatment and prevention, and improving the prognosis. Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree. PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls. Results The 2 patients and 1 asymptomatic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11. It was a heterozygous missense mutation C634R(TGC → CGC). The 3 normal controls showed no abnormalities. Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN2, which can guide the treatment and help identify one asymptomatic mutation carrier. Key words: Multiple endocrine neoplasia; Proto-oncogene; Gene test