Iacobone Maurizio, Citton Marilisa, Viel Giovanni, Schiavone Donatella, Torresan Francesca
Minimally Invasive Endocrine Surgery Unit, Department of Surgery, Oncology and Gastroenterology, University of Padua, Via Giustiniani 2, 35128, Padua, Italy.
Updates Surg. 2017 Jun;69(2):181-191. doi: 10.1007/s13304-017-0451-y. Epub 2017 Apr 28.
Endocrine tumors of thyroid, adrenal and parathyroid glands may be due to germline and inheritable mutations in 5-30% of patients. Medullary Thyroid Carcinoma, Pheochromocytoma, Paraganglioma, and Familial Primary Hyperparathyroidism are the most frequent entity. Hereditary endocrine tumors usually have a suggestive familial history; they occur earlier than sporadic variants, are multifocal, and have increased recurrence rates. They may be present as isolated variant or associated to other neoplasms in a syndromic setting. Genetic diagnosis should be preferably available before surgery because specific and targeted operative management are needed to achieve the best chance of cure. This review was aimed to discuss the surgical approaches for some of the most frequent hereditary endocrine tumors of thyroid, adrenal and parathyroid glands, focusing on medullary thyroid carcinoma, Pheochromocytoma, Paraganglioma and hereditary primary hyperparathyroidism (pHPT). Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting. Total thyroidectomy and at least central neck nodal dissection is required. The availability of genetic screening allows prophylactic or early surgery in asymptomatic patients, with subsequent definitive cure. Hereditary Pheochromocytomas may be present in several syndromes (MEN 2, VHL, NF1, Paraganglioma/Pheochromocytoma syndrome); it may involve both adrenals; in these cases, a cortical sparing adrenalectomy should be performed to avoid permanent hypocorticosurrenalism. Hereditary Primary Hyperparathyroidism may frequently occur associated to MEN 1, MEN 2A, MEN 4, Hyperparathyroidism-Jaw Tumor Syndrome; it may involve all the parathyroid glands, requiring subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation. In some cases, a selective parathyroidectomy might be performed.
甲状腺、肾上腺和甲状旁腺的内分泌肿瘤在30%的患者中可能由种系和可遗传突变引起。甲状腺髓样癌、嗜铬细胞瘤、副神经节瘤和家族性原发性甲状旁腺功能亢进是最常见的类型。遗传性内分泌肿瘤通常有提示性的家族病史;它们比散发性肿瘤出现得早,多灶性,复发率增加。它们可能以孤立性病变出现,或在综合征背景下与其他肿瘤相关。手术前最好能进行基因诊断,因为需要采取特定的、有针对性的手术管理措施,以获得最佳的治愈机会。本综述旨在讨论甲状腺、肾上腺和甲状旁腺一些最常见的遗传性内分泌肿瘤的手术方法,重点是甲状腺髓样癌、嗜铬细胞瘤、副神经节瘤和遗传性原发性甲状旁腺功能亢进(pHPT)。遗传性甲状腺髓样癌由RET突变引起,在MEN 2情况下可能与嗜铬细胞瘤相关。需要进行全甲状腺切除术和至少中央区颈部淋巴结清扫术。基因筛查的应用使得无症状患者可以进行预防性或早期手术,随后实现根治。遗传性嗜铬细胞瘤可能存在于多种综合征(MEN 2、VHL、NF1、副神经节瘤/嗜铬细胞瘤综合征)中;它可能累及双侧肾上腺;在这些情况下,应进行保留皮质的肾上腺切除术,以避免永久性肾上腺皮质功能减退。遗传性原发性甲状旁腺功能亢进可能经常与MEN 1、MEN 2A、MEN 4、甲状旁腺功能亢进-颌骨肿瘤综合征相关;它可能累及所有甲状旁腺,需要进行次全甲状旁腺切除术或全甲状旁腺切除术加自体移植。在某些情况下,可进行选择性甲状旁腺切除术。