Current diagnosis and management of medullary thyroid carcinoma

Background: Medullary thyroid carcinoma (MTC) originates in the thyroid C cells, accounting for 5% to 10% of all thyroid malignancies. Approximately 75% of cases are sporadic. Significant advances have been made in the molecular biology of MTC, but some aspects of diagnosis and management still remain controversial. Design: We reviewed relevant articles published in major English-language medical journals. We used the MEDLINE database, selected bibliographies, and articles available in our personal files. Results: Mutations of the RET proto-oncogene have been identified in the germline DNA of patients with familial MTC syndromes. Genetic testing can identify patients affected by multiple endocrine neoplasia types IIA and IIB and familial MTC, allowing early diagnosis and possible cure. Surgical treatment is total thyroidectomy. Plasma calcitonin measurements are excellent markers for postoperative follow-up, adjunctive therapy includes radiotherapy and chemotherapy. The overall prognosis is worse than papillary thyroid carcinoma. Conclusions: Recent advances in genetic testing allow early diagnosis and treatment of familial MTC syndromes. Despite some advances in treatment, optimal management remains controversial.