Iihara M, Yamashita T, Okamoto T, Kanbe M, Yamazaki K, Egawa S, Yamaguchi K, Obara T
Department of Endocrine Surgery, Tokyo Women's Medical College, Japan.
Jpn J Clin Oncol. 1997 Jun;27(3):128-34. doi: 10.1093/jjco/27.3.128.
MEN (multiple endocrine neoplasia) type 2 syndrome is an inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and/or developmental anomalies. Germ-line mutations of the RET proto-oncogene have recently been identified as the underlying cause of the syndrome. Accordingly, several investigators have advocated prophylactic total thyroidectomy for medullary thyroid carcinoma at an early age in MEN 2 gene carriers identified by DNA analysis. Before applying this strategy in Japan, the biological behavior of each category of tumor in MEN 2 syndrome, and medullary thyroid carcinoma in particular, should be well understood. We conducted a nationwide questionnaire survey to clarify the clinicopathological features of MEN 2 in Japan, obtaining data for 230 patients diagnosed as having MEN 2. They included 84 males and 146 females, with a median age of 37.5 years (range 5-83). Patients were categorized as 179 with MEN 2A, 17 with MEN 2B, 12 with familial medullary thyroid carcinoma and 22 'other'. Medullary thyroid carcinoma, pheochromocytoma and parathyroid lesions occurred in 224 (97%), 132 (57%) and 25 (11%) patients respectively. Twelve patients (5.2%) died of medullary thyroid carcinoma and 11 patients died of other or unknown causes. Of 163 patients for whom follow-up data were obtained, 82 (50%) experienced recurrences of medullary thyroid carcinoma, including symptomatic recurrent tumors in 24 patients and elevated calcitonin levels alone in 54. In the era of RET mutational analysis for screening relatives of patients with MEN 2, these data provide useful information about surgical management for patients with MEN 2 in Japan.
2型多发性内分泌腺瘤（MEN）综合征是一种遗传性疾病，其特征为甲状腺髓样癌、嗜铬细胞瘤、甲状旁腺功能亢进和/或发育异常。RET原癌基因的种系突变最近已被确定为该综合征的根本原因。因此，一些研究人员主张对通过DNA分析确定的MEN 2基因携带者在幼年时进行预防性甲状腺全切除术。在日本应用这一策略之前，应充分了解MEN 2综合征中各类肿瘤的生物学行为，尤其是甲状腺髓样癌。我们进行了一项全国性问卷调查，以阐明日本MEN 2的临床病理特征，获得了230例诊断为MEN 2患者的数据。其中包括84名男性和146名女性，中位年龄为37.5岁（范围5 - 83岁）。患者分为MEN 2A 179例、MEN 2B 17例、家族性甲状腺髓样癌12例和“其他”22例。甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺病变分别发生在224例（97%）、132例（57%）和25例（11%）患者中。12例患者（5.2%）死于甲状腺髓样癌，11例患者死于其他或不明原因。在获得随访数据的163例患者中，82例（50%）出现甲状腺髓样癌复发，其中24例为有症状的复发肿瘤，54例仅降钙素水平升高。在对MEN 2患者亲属进行RET突变分析以进行筛查的时代，这些数据为日本MEN 2患者的手术治疗提供了有用信息。
