Russo D, Arturi F, Chiefari E, Meringolo D, Bianchi D, Bellanova B, Filetti S
Dipartimento di Medicina Sperimentale e Clinica, Facoltà di Farmacia, Università di Reggio Calabria, Catanzaro, Italy.
J Clin Endocrinol Metab. 1997 Oct;82(10):3378-82. doi: 10.1210/jcem.82.10.4278.
Medullary thyroid carcinoma (MTC) management requires determination of the sporadic or familial nature of the disease. RET proto-oncogene mutation analysis in the tumor tissue obtained at surgery and in the peripheral blood identifies somatic vs. germinal mutations. We now report a case of MTC in which a RET somatic mutation at codon 918 was detected in fine-needle aspiration specimens obtained from both the thyroid nodule and two enlarged neck lymph nodes but not in peripheral blood. Therefore, a diagnosis of sporadic MTC was made before surgery. Thus, this approach, by excluding preoperatively multiple endocrine neoplasia disease, permitted immediate thyroidectomy without search for pheochromocytoma. PCR-based genetic analysis in fine-needle aspiration biopsy specimens, therefore, preoperatively identifies genetic abnormalities at an early and easily manageable stage and may well contribute to the management strategy of MTC.
甲状腺髓样癌（MTC）的治疗需要确定该疾病是散发性还是家族性。对手术获取的肿瘤组织以及外周血进行RET原癌基因突变分析，可鉴别体细胞突变与胚系突变。我们现报告1例MTC病例，在从甲状腺结节和两个颈部肿大淋巴结获取的细针穿刺标本中检测到第918密码子处的RET体细胞突变，但在外周血中未检测到。因此，术前诊断为散发性MTC。这样，通过术前排除多发性内分泌腺瘤病，可直接进行甲状腺切除术，而无需寻找嗜铬细胞瘤。因此，基于聚合酶链反应（PCR）的细针穿刺活检标本基因分析可在早期且易于处理的阶段术前识别基因异常，很可能有助于MTC的治疗策略。
