A novel RET proto-oncogene mutation in a pedigree of multiple endocrine neoplasia type 2A / 中华内分泌代谢杂志

ABSTRACT

Objective To observe the clinical manifestation and the mode of RET proto-oncogene mutation in a pedigree of mutiple endocrine neoplasia type 2A (MEN2A). Methods Genomic DNA was extracted from the peripheral blood lymphocytes in 18 family members including 3 patients, then PCR was performed to amplify seven exons of the RET proto-oncogene, i. e. exon 8,10,11,13-16. The PCR products were directly sequenced to identify the RET mutation and then sequenced after subcloning to identify their heterozygosity. Results The male proband suffered from pheochromocytoma and medullary thyroid carcinoma since the age of 30; while his sibling sister was ill with pheochromocytoma, and his brother with medullary thyroid carcinoma. A novel heterozygous mutation, 1893-1895delCGA, was detected in exon 11 of the RET proto-oncogene in the 3 patients and the other 2 family members. Conclusion A novel heterozygous mutation of RET proto-oncogene, 1893-1895delCGA, seems to be the disease-causing mutation in the studied MEN2A family.