Searchable abstracts of presentations at key conferences in endocrinology

ea0011p870 | Thyroid | ECE2006

Identification of a novel germ-line point mutation of the ret gene (Met848Thr) in a patient affected by medullary thyroid carcinoma and castleman’s syndrome

Cosci B , Altea M , Castagna M , Romei C , Piampiani P , Vivaldi A , Ciampi R , Faviana P , Basolo F , Pinchera A , Elisei R

Mutations in the RET proto-oncogene are responsible for multiple endocrine neoplasia type II. Somatic RET mutations were described in 50% of medullary thyroid carcinoma (MTC). We describe here a novel germline mutation of the RET gene detected in an apparentely sporadic MTC.The index case was a 67 years old patient who arrived at our observation for a bilateral laterocervical linfoadenopathy. The patient was clinically evaluated for thyroid function and ...