Herfarth K K, Bartsch D, Doherty G M, Wells S A, Lairmore T C
Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.
Surgery. 1996 Dec;120(6):966-73; discussion 973-4. doi: 10.1016/s0039-6060(96)80042-0.
The surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A (MEN 2A) is controversial. We report the long-term follow-up, mutational analysis, and surgical outcome in a large group of patients with MEN 2A and hyperparathyroidism.
Clinical and genetic data for MEN 2A patients with biochemically and pathologically confirmed hyperparathyroidism and a minimum of 5 years of follow-up were analyzed retrospectively, and outcomes after surgical management were compared.
Thirty-five (29%) of 119 patients from 14 MEN 2A kindreds had biochemical and pathologic evidence of hyperparathyroidism, with a mean follow-up of 14.7 years. The phenotypic expression of hyperparathyroidism was associated with germline mutations of the RET protooncogene at codons 634 and 618. At initial operation, 21 (62%) patients had a selective resection, eight (24%) had a subtotal resection, five (14%) had total parathyroidectomy with autotransplantation, and one had an inadvertent total parathyroidectomy. Twenty-seven (77%) patients were cured by the first operation. Persistent hyperparathyroidism occurred in three (8.6%) patients, and recurrent hyperparathyroidism occurred in five (14.3%) patients; both occurred only in patients treated with selective or subtotal resection. Permanent postoperative hypoparathyroidism occurred in six (21%) of 29 patients after selective or subtotal resection, in the one patient with inadvertent total parathyroidectomy, and in one (20%) of 5 patients treated with total parathyroidectomy and autotransplantation.
Recurrent or persistent hyperparathyroidism occurs after selective or subtotal parathyroidectomy, as a result of either missed glands or interval development of neoplasia in previously normal parathyroid glands left in situ. Therefore we advocate total parathyroidectomy and heterotopic autotransplantation for patients with hyperparathyroidism and MEN 2A.
2A 型多发性内分泌腺瘤病（MEN 2A）患者甲状旁腺功能亢进的手术治疗存在争议。我们报告了一大组 MEN 2A 合并甲状旁腺功能亢进患者的长期随访、突变分析及手术结果。
回顾性分析 14 个 MEN 2A 家系中 119 例经生化及病理证实为甲状旁腺功能亢进且随访至少 5 年的患者的临床和基因数据，并比较手术治疗后的结果。
来自 14 个 MEN 2A 家系的 119 例患者中，35 例（29%）有甲状旁腺功能亢进的生化及病理证据，平均随访 14.7 年。甲状旁腺功能亢进的表型表达与 RET 原癌基因密码子 634 和 618 的胚系突变相关。初次手术时，21 例（62%）患者行选择性切除术，8 例（24%）行次全切除术，5 例（14%）行甲状旁腺全切除术并自体移植，1 例意外行甲状旁腺全切除术。27 例（77%）患者首次手术治愈。3 例（8.6%）患者出现持续性甲状旁腺功能亢进，5 例（14.3%）患者出现复发性甲状旁腺功能亢进；两者均仅发生在接受选择性或次全切除术的患者中。29 例接受选择性或次全切除术的患者中有 6 例（21%）、1 例意外行甲状旁腺全切除术的患者以及 5 例接受甲状旁腺全切除术并自体移植的患者中有 1 例（20%）术后发生永久性甲状旁腺功能减退。
选择性或次全甲状旁腺切除术后会出现复发性或持续性甲状旁腺功能亢进，原因是遗漏腺体或原位保留的先前正常甲状旁腺腺体出现肿瘤的间隔性发展。因此，我们主张对 MEN 2A 合并甲状旁腺功能亢进的患者行甲状旁腺全切除术及异位自体移植术。
