Calender A, Giraud S, Schuffenecker I, Lenoir G M, Gaudray P, Courseaux A, Porchet N, Aubert J P, Zhang C X
Molecular Genetics Unit, Hôpital Edouard Herriot, Lyon, France.
Horm Res. 1997;47(4-6):199-210. doi: 10.1159/000185465.
Multiple endocrine neoplasias (MEN) are familial diseases characterized by endocrine neoplasms and transmitted in an autosomal dominant manner. In MEN type 1, the major lesions affect parathyroid glands, pancreatic islet cells and anterior pituitary. The MEN-1 gene has been mapped to chromosome 11q13 and a set of DNA-polymorphic markers localized close to this region provides a useful tool for presymptomatic diagnosis in MEN-1 families. MEN type 2 refers to the inherited forms of medullary thyroid carcinoma (MTC) associated or not with pheochromocytoma and hyperparathyroidism. In MEN-2, germinal mutations of the C-RET proto-oncogene which is localized on chromosome 10q11 have been found in the three clinical and allelic forms of the syndrome respectively, MEN-2 type A, B and familial isolated MTC. Mutations of C-RET are found in more than 90% of MEN-2 patients and genetic screening leads to accurate risk evaluation in families and consequently a preventive treatment of MTC and adrenal neoplasms. Recent discoveries on MEN syndromes and related familial endocrine disorders have a major clinical impact and allow a better understanding of the physiological pathways involved in familial as well as in sporadic endocrine tumor pathogenesis.
多发性内分泌腺瘤病（MEN）是一类以内分泌肿瘤为特征的家族性疾病，呈常染色体显性遗传。在MEN 1型中，主要病变累及甲状旁腺、胰岛细胞和垂体前叶。MEN - 1基因已被定位到11号染色体长臂1区3带，一组定位于该区域附近的DNA多态性标记为MEN - 1家族的症状前诊断提供了有用的工具。MEN 2型是指与嗜铬细胞瘤和甲状旁腺功能亢进相关或不相关的遗传性甲状腺髓样癌（MTC）。在MEN - 2中，分别在该综合征的三种临床和等位基因形式，即MEN - 2 A型、B型和家族性孤立性MTC中，发现了位于10号染色体长臂1区1带的C - RET原癌基因的胚系突变。超过90%的MEN - 2患者存在C - RET突变，基因筛查可对家族中的风险进行准确评估，从而对MTC和肾上腺肿瘤进行预防性治疗。最近关于MEN综合征及相关家族性内分泌疾病的发现具有重大临床意义，有助于更好地理解家族性和散发性内分泌肿瘤发病机制中涉及的生理途径。
