Konstantinou Evangelos, Sapsakos Mariolis Theodoros, Fotis Theofanis, Mitsos Aristotelis, Restos Stylianos, Mamoura Konstantina, Soultati Aspasia, Elefsiniotis Ioannis, Kapellakis George
National and Kapodistrian University of Athens Faculty of Nursing, Surgical Nursing Section 18 Kivelis str. 15238 Athens Greece.
Pediatr Endocrinol Rev. 2010 Dec;8(2):108-13.
The currently available genetic tests for identification of the RET proto-oncogene mutation offer the possibility of prospective successful therapy before the hyperplasia of C-cells evolve to Medullary Thyroid Carcinoma. We present our experience regarding the preventive thyroidectomy of family members with history of Medullary Thyroid Carcinoma, who were found to be heterozygote for mutant RET proto-oncogene. We have retrospectively reviewed 19 members of 6 families with history of Medullary Thyroid Carcinoma, who were heterozygote for mutant RET protooncogene and underwent prophylactic thyroidectomy. All patients included in this series were below twenty years of age. The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them. All patients had undergone total thyroidectomy, while 1 with pheochromocytoma had undergone also left epinephridectomy. Fourteen patients (73.68%) had undergone lymph-nodes resection (in 10 of them the resection was central, in 3 unilateral and in 1 bilateral). Although none of our patients suffered from hyperparathyroidism, 7 parathyroid glands have been also resected from 3 patients, while auto-transfusion has been performed in one. In all patients, preoperative measurement of the calcitonin blood levels before and after stimulation with pentagastrin has been performed.
目前可用于鉴定RET原癌基因突变的基因检测为在C细胞增生发展为甲状腺髓样癌之前进行前瞻性成功治疗提供了可能性。我们介绍了对有甲状腺髓样癌病史且被发现为RET原癌基因突变杂合子的家庭成员进行预防性甲状腺切除术的经验。我们回顾性研究了6个有甲状腺髓样癌病史的家庭中的19名成员，他们是RET原癌基因突变的杂合子并接受了预防性甲状腺切除术。该系列纳入的所有患者年龄均在20岁以下。甲状腺髓样癌无症状，所有患者术前均记录到RET原癌基因突变。所有患者均接受了甲状腺全切除术，1例合并嗜铬细胞瘤的患者还接受了左肾上腺切除术。14例患者（73.68%）接受了淋巴结切除术（其中10例为中央区切除，3例为单侧切除，1例为双侧切除）。尽管我们的患者均未患甲状旁腺功能亢进，但3例患者的7个甲状旁腺也被切除，其中1例进行了自体移植。所有患者术前均测定了五肽胃泌素刺激前后的降钙素血水平。
