Heshmati H M, Gharib H, van Heerden J A, Sizemore G W
Division of Endocrinology/Metabolism and Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Am J Med. 1997 Jul;103(1):60-9. doi: 10.1016/s0002-9343(97)00024-7.
Recent advances in the diagnosis and treatment of medullary thyroid carcinoma (MTC) have been significant, but some issues remain controversial. MTC may occur either as a hereditary or a nonhereditary entity. Hereditary MTC can occur either alone--familial MTC (FMTC)--or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN 2) syndromes (MEN 2A and MEN 2B). These hereditary disorders are due to germline mutations in the RET proto-oncogene. Early diagnosis and treatment considerably improve the prognosis in patients with MTC. Genetic testing can identify almost all affected individuals with hereditary disease and permits early thyroidectomy in gene carriers. Plasma CT is an excellent marker for postoperative follow-up. Imaging studies help delineate recurrent or metastatic lesions. Treatment of recurrent or metastatic disease is primarily surgical, including either palliative or microdissective surgery. Radiation therapy is reserved for skeletal metastasis or nonresectable metastatic MTC. Efficacy of current chemotherapy programs is not well established. Overall, the 10-year survival rates are approximately 65%.
甲状腺髓样癌(MTC)的诊断和治疗近年来取得了显著进展,但仍有一些问题存在争议。MTC可表现为遗传性或非遗传性疾病。遗传性MTC可单独发生——家族性MTC(FMTC),或作为2型多发性内分泌腺瘤综合征(MEN 2)(MEN 2A和MEN 2B)的甲状腺表现。这些遗传性疾病是由RET原癌基因的种系突变引起的。早期诊断和治疗可显著改善MTC患者的预后。基因检测几乎可以识别所有患有遗传性疾病的个体,并允许对基因携带者进行早期甲状腺切除术。血浆降钙素是术后随访的良好标志物。影像学检查有助于明确复发或转移病灶。复发或转移性疾病的治疗主要是手术,包括姑息性手术或显微解剖手术。放射治疗适用于骨转移或不可切除的转移性MTC。目前化疗方案的疗效尚未明确。总体而言,10年生存率约为65%。