Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Horm Metab Res. 2020 Aug;52(8):588-597. doi: 10.1055/a-1145-8479. Epub 2020 Apr 16.
Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine cancer that accounts for 1-2% of thyroid cancers in the United States (U.S.). While most cases are sporadic, 25% of MTC cases are hereditary. These hereditary cases occur in the setting of Multiple Endocrine Neoplasia Type 2A (MEN2A) or 2B (MEN2B) driven by mutations in the proto-oncogene. This article discusses hereditary MTC in the setting of MEN2 and the treatment options available for it. The first line treatment for this disease is typically a total thyroidectomy and tyrosine kinase inhibitors. Two tyrosine kinase inhibitors, vandetanib and cabozantinib, have been approved for treatment of advanced MTC, but options beyond those are limited. However, several promising treatments are being studied, which are discussed in this review.
甲状腺髓样癌（MTC）是一种罕见的神经内分泌癌，占美国（U.S.）甲状腺癌的 1-2%。虽然大多数病例是散发性的，但 25%的 MTC 病例是遗传性的。这些遗传性病例发生在多发性内分泌肿瘤 2A 型（MEN2A）或 2B 型（MEN2B）中，由原癌基因的突变驱动。本文讨论了 MEN2 背景下的遗传性 MTC 及其可用的治疗选择。这种疾病的一线治疗通常是全甲状腺切除术和酪氨酸激酶抑制剂。两种酪氨酸激酶抑制剂，凡德他尼和卡博替尼，已被批准用于治疗晚期 MTC，但除此之外的选择有限。然而，目前正在研究几种有前途的治疗方法，本文对此进行了讨论。
