Basaran M N, Tuna M M, Karakılıç E, Doğan B A, İmga N N, Berker D, Güler S
Endocrinology and Metabolism Department, Ankara Numune Training and Research Hospital, Ankara, Turkey.
Endocrinology and Metabolism Department, Dicle University Medical Faculty, Sur, Diyarbakır, Turkey.
J Endocrinol Invest. 2015 May;38(5):541-6. doi: 10.1007/s40618-014-0224-0. Epub 2014 Dec 12.
Analysis of the RET proto-oncogen is very important for diagnosis and prognosis of medullary thyroid cancer (MTC). Genotype-phenotype correlation is also well known. Here we report features of the largest known family in Turkey with the V804M-mutated RET proto-oncogene.
Thirty members from three generations were evaluated. A RET proto-oncogen mutation, calcitonin (Ct) measurement and thyroid ultrasound were performed on all individuals. Seventeen members had V804M mutation. Fourteen of these patients underwent total thyroidectomy and additional central lymph node dissection for five subjects.
The mean age of patients with MTC was 46.5 (30-61) years. The mean calcitonin level of RET positive members was 13.27 pg/mL (1-49.8 pg/mL). Three had a basal Ct level above normal limits. Seven of the 14 patients were diagnosed with MTC, and two were diagnosed with papillary thyroid cancer without MTC. One patient had central neck metastasis. Hyperparathyroidism or pheochromocytoma was not detected in any case. Patients who were RET negative, had normal Ct levels and no suspected nodule on ultrasound examination.
Our study revealed a relatively good prognosis in patients with V804M mutation. Despite the surgery was performed in older age no advance disease was observed.
RET原癌基因分析对甲状腺髓样癌（MTC）的诊断和预后非常重要。基因型与表型的相关性也广为人知。在此，我们报告土耳其已知的携带V804M突变的RET原癌基因的最大家族的特征。
对三代中的30名成员进行了评估。对所有个体进行了RET原癌基因突变检测、降钙素（Ct）测量和甲状腺超声检查。17名成员存在V804M突变。其中14名患者接受了全甲状腺切除术，5名患者还进行了中央区淋巴结清扫。
MTC患者的平均年龄为46.5（30 - 61）岁。RET阳性成员的平均降钙素水平为13.27 pg/mL（1 - 49.8 pg/mL）。3人的基础Ct水平高于正常范围。14名患者中有7人被诊断为MTC，2人被诊断为无MTC的甲状腺乳头状癌。1例患者有颈部中央区转移。未发现任何一例甲状旁腺功能亢进或嗜铬细胞瘤。RET阴性的患者Ct水平正常，超声检查未发现可疑结节。
我们的研究显示V804M突变患者的预后相对较好。尽管手术在年龄较大时进行，但未观察到进展期疾病。
