Current Understanding and Management of Medullary Thyroid Cancer

• Published in: The oncologist (Dayton, Ohio) Vol. 18; no. 10; pp. 1093 - 1100
• Main Authors: Roy, Madhuchhanda, Chen, Herbert, Sippel, Rebecca S.
• Format: Journal Article
• Language: English
• Published: Durham, NC, USA AlphaMed Press 01.10.2013
• Subjects: Calcitonin - blood; Carcinoma, Medullary - blood; Carcinoma, Medullary - congenital; Carcinoma, Medullary - genetics; Carcinoma, Medullary - pathology; Carcinoma, Medullary - surgery; Carcinoma, Neuroendocrine; Endocrinology; Familial Medullary Thyroid Cancer (FMTC); Germ-Line Mutation; Humans; Lymph Node Excision; Medullary Thyroid Cancer (MTC); Multiple Endocrine Neoplasia Syndrome; Multiple Endocrine Neoplasia Type 2a - blood; Multiple Endocrine Neoplasia Type 2a - genetics; Multiple Endocrine Neoplasia Type 2a - pathology; Multiple Endocrine Neoplasia Type 2a - surgery; Prophylactic surgery in MTC; Proto-Oncogene Proteins c-ret - genetics; RET proto‐oncogene; Serum calcitonin; Thyroid Neoplasms - blood; Thyroid Neoplasms - genetics; Thyroid Neoplasms - pathology; Thyroid Neoplasms - surgery; Thyroidectomy; Prophylactic surgery in MTC; Familial Medullary Thyroid Cancer (FMTC); Medullary Thyroid Cancer (MTC); RET proto-oncogene; Multiple Endocrine Neoplasia Syndrome; Serum calcitonin
• ISSN: 1083-7159; 1549-490X
• DOI: 10.1634/theoncologist.2013-0053

Learning Objectives Identify and evaluate a patient with a diagnosis of medullary thyroid cancer. Utilize genetic testing for the RET proto‐oncogene and explain how the location of the mutation affects the risks for the patient. Select among the surgical treatment options for patients with medullary thyroid cancer, including prophylactic surgery in genetic carriers. 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. 摘要 甲状腺髓样癌 (MTC) 在所有甲状腺癌中通常占 3%–4%。虽然大多数 MTC 呈散发性，但有 20% 的病例是遗传性病例。根据 RET 原癌基因上的一个特定胚系突变，遗传性 MTC 可归类于 2A 或 2B 型多发性内分泌肿瘤综合征或者家族性 MTC 的组成部分。本文讨论了 MTC 疑似患者及其家人的最新诊断、评估和治疗方案。该疾病的主要治疗手段是手术治疗，通常需要进行甲状腺全切术和淋巴结清扫术。本文对最新指南中的手术切除范围和时机进行了总结。针对 MTC 的有效全身治疗方案，目前还不是很多，但新近发现的若干治疗靶标为 MTC 患者带来了希望。The Oncologist 2013; 18:1093–1100 This article discusses the current approaches available for the diagnosis, evaluation, and management of patients and their family members with suspected medullary thyroid cancer. 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.