Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2007) 14 P165

Germinal mutations in protooncogene RET are associated with the inherited medullary thyroid carcinoma (MTC) which occurs as the sole manifestation of disease (FMTC) or, more frequently, as the part of multiple endocrine neoplasia (MEN2). The contribution of RET polymorphism to the occurrence of apparent sporadic MTCs is controversial. In our previous study we have found out that the frequency of RET 769 CTT>CTG polymorphism in patients with MTCs is not significantly higher when compared to control group.

In the present study we analyzed RET 769 polymorphism in 61 patients with apparent sporadic pheochromocytomas or paragangliomas, in whom known germline RET mutations and SDHB/D mutations were excluded.

DNA was isolated from peripheral blood leukocytes. Polymorphism 769 CTT>CTG was found in 39 patients (59%). Its frequency was 56% in patients with pheochromocytoma and 72.7% in the group of non functional paraganglioma. Simultaneously, its frequency was 23% in patients with true sporadic MTC and 27% in the control group of healthy patients (P<0.05).

Conclusions: The protooncogene RET exon 13 polymorphism is associated with the occurrence of apparent sporadic pheochromocytomas and paragangliomas

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