Azar Faris K, Lee Stephanie L, Rosen Jennifer E
Department of Surgery, Johns Hopkins University, Baltimore, Maryland, USA.
Am Surg. 2015 Jan;81(1):1-8.
Medullary thyroid carcinoma is uncommon but accounts for approximately 4 to 5 per cent of all thyroid cancers. Although most cases are sporadic, close to one-fourth of cases result from germline mutations in the RET proto-oncogene. These mutations are clinically important because they predict the earliest age of medullary thyroid cancer diagnosis and clinical aggressiveness, which guide individualized management. This review covers the presentation, diagnosis, workup, current management, and future directions of the management of medullary thyroid carcinoma. Today's chance for cure depends on early and appropriate surgical resection. Further investigation of the cellular signaling pathways shown to be essential for the growth and spread of medullary thyroid carcinoma remains an active field with hope for providing targeted systemic therapy for patients with progressive disease.
甲状腺髓样癌并不常见，但约占所有甲状腺癌的4%至5%。虽然大多数病例是散发性的，但近四分之一的病例是由RET原癌基因的种系突变引起的。这些突变在临床上很重要，因为它们可以预测甲状腺髓样癌的最早诊断年龄和临床侵袭性，从而指导个体化治疗。本综述涵盖了甲状腺髓样癌的临床表现、诊断、检查、当前治疗方法以及未来治疗方向。如今治愈的机会取决于早期和适当的手术切除。对甲状腺髓样癌生长和扩散所必需的细胞信号通路的进一步研究仍然是一个活跃的领域，有望为进展期疾病患者提供靶向全身治疗。
