GENETIC AND BIOCHEMICAL SCREENING FOR ENDOCRINE DISEASE

The development of biochemical and genetic screening tests for inherit ed endocrine diseases has dramatically changed our approach to surgica l patients with endocrine tumors. Among more than 1800 patients with e ndocrine tumors and a possible inherited disease operated on between 1 986 and 1997, there were 6.1% to 7.3% who were found to have a familia l disease associated with familial medullary thyroid cancer, (MTC), mu ltiple endocrine neoplasia type IIa (MEN-IIa), MEN-IIb, or MEN-I. Gene tic testing for the RET proto-oncogene is therefore recommended for al l patients with MTC, and testing for the MEN-I gene is recommended in patients with suspected MEN-I and in specific clinical subgroups with an increased probability of endocrine tumor heredity. Early treatment based on early diagnosis by genetic testing appears to improve surviva l and to decrease morbidity in these patients.