Medullary Thyroid Carcinoma: A Brief Review of Pathogenesis, Diagnosis, and Treatment. Issue 5 (September 2015)

• Record Type: Journal Article
• Authors: Ghofrani, Mohiedean; Ocal, Idris Tolgay
• Is Part Of: Pathology case reviews. Volume 20:Issue 5(2015)
• Publication Date: 2015-09
• Subjects: calcitonin -- fine-needle aspiration -- medullary thyroid carcinoma -- RET mutations; Diagnosis, Laboratory -- Periodicals; Pathology -- Case studies -- Periodicals; Pathology, Clinical -- Case Reports; Pathology, Clinical -- Periodicals; Diagnosis, Laboratory; Pathology; Case studies; Periodicals; Case Reports; Periodicals; Electronic journals; 616.07
• DOI: 10.1097/PCR.0000000000000108
• Languages: English
• ISSNs: 1082-9784

Abstract

Abstract : Abstract: Medullary thyroid carcinoma (MTC) is a differentiated form of thyroid carcinoma that, in contrast to the more common follicular cell–derived carcinomas, arises from the calcitonin-secreting parafollicular C cells. The majority are sporadic, presenting as a solitary thyroid nodule in adulthood, whereas the less common hereditary forms present at an earlier age, typically as multifocal disease. In unsuspected patients, MTC is often at an advanced stage at the time of diagnosis. The diagnosis of MTC is almost always made by fine-needle aspiration (FNA) cytology in sporadic cases and often by serum calcitonin measurement in patients known to be at risk of hereditary disease. The variety of cytologic presentations of MTC introduces many possibilities in the differential diagnosis. The diagnostic accuracy of FNA can be enhanced by ancillary testing, specifically calcitonin and carcinoembryonic antigen immunohistochemistry or measurement of these tumor markers in serum or FNA washout fluid. Recognition of the role of mutations in the RET (REarranged during Transfection) proto-oncogene in the pathogenesis of MTC has led to the development of tests for screening, diagnosis, and prognostication. The mainstay of treatment is thyroidectomy with central neck lymph node dissection, which may be performed as a prophylactic procedure in patients with germline RET mutations. Given the suboptimal results of radiotherapy and chemotherapy, treatments that specifically target RET such as vandetanib and cabozantinib have shown promise in phase 3 clinical trials.