Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791.

摘要: Summary Objectives  Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line mutations in the RET proto-oncogene. Our study addresses difference development of MTC between rare codons 790, 791 and 804. Design  We evaluated tumour stage, calcitonin levels, biochemical cure rates associated endocrinopathies 153 German/Austrian patients with 790 (n = 47), (n = 56) 804 (n = 50), divided into index- screening groups. Results  Age at diagnosis index-patients did not differ significantly among three codon groups (medians 57, 61 53 years). Tumour stage was less advanced (n = 22) than (n = 16) (P = 0·001). In patients, age 19, 24 32 years). also (n = 34) (n = 31) (P = 0·032). Preoperative basal levels were lower carriers compared to carriers, higher both index (75%vs. 31%; P = 0·03) (100%vs. 75%; P = 0·015). Additional observed only (four pheochromocytomas two hyperparathyroidism). Conclusion  There a significant extensive C-cell disease, rate more frequent additional mutations. This information should be considered when prophylactic thyroidectomy discussed.