Current understanding and management of medullary thyroid cancer

Abstract

Medullary thyroid cancer (MTC) typically accounts for 3%-4% of all thyroid cancers. Although the majority of MTCs are sporadic, 20% of cases are hereditary. Hereditary MTC can be found in multiple endocrine neoplasia 2A or 2B or as part of familial MTC based on a specific germline mutation in the RET proto-oncogene. This article discusses the current approaches available for the diagnosis, evaluation, and management of patients and their family members with suspected MTC. The disease is predominantly managed surgically and typically requires a total thyroidectomy and lymph node dissection. A review of recent guidelines on the extent and timing of surgical excision is discussed. There are not very many effective systemic treatment options for MTC, but several emerging therapeutic targets have promise.

Keywords: Familial Medullary Thyroid Cancer (FMTC); Medullary Thyroid Cancer (MTC); Multiple Endocrine Neoplasia Syndrome; Prophylactic surgery in MTC; RET proto-oncogene; Serum calcitonin.

Figure 1.

Gross view and histology of medullary thyroid cancer. (A): Operative specimen of left thyroid and associated lymph nodes. (B, C): Histology of medullary thyroid cancer shown by hematoxylin and eosin (B) and Congo red stain (C) emphasizing the characteristic stromal amyloid. From [41] with permission from AlphaMed Press.