Guillausseau P J, Calmettes C, Feingold N, Franc B, Guillausseau-Scholer C, Modigliani E, Sobol H
Service de Médecine Interne, Hôpital Lariboisière, Paris.
Presse Med. 1991;20(44):2256-62.
Multiple endocrine neoplasia type 2 (MEN 2) is transmitted as an autosomal dominant trait, with 3 different forms. MEN 2a consists of medullary thyroid carcinoma, phaeochromocytoma(s) and hyperparathyroidism. In MEN 2b, parathyroid hyperplasia is absent, but a Marfan-like syndrome and neuromas of the mucosae are present. In some families, the only manifestation of MEN 2 is a medullary thyroid carcinoma. These 3 forms seem to related to one or several gene(s) located in the pericentromeric region of chromosome 10. The histological lesions of MEN 2a are multifocal, bilateral and associated with hyperplasia (which affects C-cells in the thyroid gland). Screening for familial medullary thyroid carcinoma is based upon plasma calcitonin levels measured before and after a pentagastrin stimulation test. The demonstration of DNA markers near the gene(s) of the disease in chromosome 10 pericentromeric region makes it possible to identify, with good probability, the subjects at risk for the disease. It is only by determining the responsible gene(s) that subjects carrying the hereditary anomaly will be identified directly, without marker assays.
2型多发性内分泌腺瘤病（MEN 2）以常染色体显性性状遗传，有3种不同形式。MEN 2a包括甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进。在MEN 2b中，不存在甲状旁腺增生，但存在类马方综合征和黏膜神经瘤。在一些家族中，MEN 2的唯一表现是甲状腺髓样癌。这3种形式似乎与位于10号染色体着丝粒周围区域的一个或几个基因有关。MEN 2a的组织学病变是多灶性、双侧性的，并伴有增生（影响甲状腺中的C细胞）。家族性甲状腺髓样癌的筛查基于五肽胃泌素刺激试验前后测量的血浆降钙素水平。在10号染色体着丝粒周围区域疾病基因附近的DNA标记物的证明使得很有可能识别出有患病风险的个体。只有通过确定致病基因，才能直接识别携带遗传异常的个体，而无需进行标记物检测。
