Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen the mutations of RET proto-oncogene in sporadic patients with pheochromocytoma.</p><p><b>METHODS</b>Forty-two cases of sporadic pheochromocytoma were tested for mutations of RET gene. Of these 42 DNA samples, 12 were extracted from peripheral blood cells and 30 from paraffin-embedded pheochromocytoma specimens. The PCR product of exon 10 and exon 11 was used to molecular analysis of the RET proto-oncogene.</p><p><b>RESULTS</b>Among 42 patients, 2 were found to have RET gene mutations. One of mutations located at codon 634 (TGC>TAC) in exon 11 of RET proto-oncogene. Another one located at codon 632 (GAG>AAG).</p><p><b>CONCLUSION</b>Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.</p>