3rd Department of Surgery, AHEPA University Hospital, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece;
Rom J Morphol Embryol. 2020 Jul-Sep;61(3):681-686. doi: 10.47162/RJME.61.3.06.
Medullary thyroid cancer (MTC) is an infrequent neuroendocrine tumor, which amounts to 3-5% of all thyroid malignancies. Approximately 75-80% of MTCs are sporadic neoplasms. The rest of 20-25% are familial cases that belong to multiple endocrine neoplasia (MEN) syndromes, specifically MEN2 and MEN3. These cases of familial MTC are attributed to an activating germline mutation of a tyrosine kinase receptor gene, the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.21. These mutations are also found in some cases of sporadic MTC. This review sets forth in summary the accepted guidelines and approaches regarding diagnosis, management, and treatment of MTC. Surgical resection is the standard care, and an early, prophylactic intervention is performed in genetic cases. Further investigation and understanding of the molecular pathways involved in the growth and advancement of MTC is required in order to provide efficient therapy in cases of progressive disease.
甲状腺髓样癌（MTC）是一种罕见的神经内分泌肿瘤，约占所有甲状腺恶性肿瘤的 3-5%。大约 75-80%的 MTC 是散发性肿瘤。其余的 20-25%是家族性病例，属于多发性内分泌肿瘤（MEN）综合征，特别是 MEN2 和 MEN3。这些家族性 MTC 病例归因于位于 10q11.21 染色体上的酪氨酸激酶受体基因、重排期间易位（RET）原癌基因的激活种系突变。这些突变也存在于一些散发性 MTC 病例中。这篇综述总结了关于 MTC 的诊断、管理和治疗的公认指南和方法。手术切除是标准的治疗方法，在遗传性病例中进行早期预防性干预。为了在进行性疾病的情况下提供有效的治疗，需要进一步研究和了解涉及 MTC 生长和进展的分子途径。
