Pack S, Turner M L, Zhuang Z, Vortmeyer A O, Böni R, Skarulis M, Marx S J, Darling T N
Dermatology Branch and Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892-1908, USA.
J Invest Dermatol. 1998 Apr;110(4):438-40. doi: 10.1046/j.1523-1747.1998.00140.x.
Multiple endocrine neoplasia type 1 (MEN1), the heritable tendency to develop tumors of the parathyroid, pituitary, and entero-pancreatic endocrine tissues, is the consequence of a germline mutation in the MEN1 gene. Endocrine tumors in these patients result when the mutant MEN1 allele is accompanied by loss of the normal MEN1 allele. Recently it was reported that MEN1 patients also exhibit several cutaneous tumors, including multiple angiofibromas, collagenomas, and lipomas. The purpose of this study was to examine skin lesions from patients with MEN1 for allelic loss of the MEN1 gene. Skin lesions from five patients with MEN1 were examined using fluorescence in situ hybridization. Six angiofibromas, three collagenomas, and one lipoma showed allelic deletion of the MEN1 gene. Allelic deletion was not observed in a melanocytic nevus or acrochordon from patients with MEN1. It was also not observed in an angiofibroma from a patient with tuberous sclerosis. These results suggest that loss of function of the wild-type MEN1 gene product plays a role in the development of angiofibromas, collagenomas, and lipomas in patients with MEN1.
多发性内分泌腺瘤1型（MEN1）是一种遗传性疾病，易发生甲状旁腺、垂体及肠胰腺内分泌组织的肿瘤，是由MEN1基因的种系突变引起的。当突变的MEN1等位基因伴随正常MEN1等位基因缺失时，这些患者就会发生内分泌肿瘤。最近有报道称，MEN1患者还会出现几种皮肤肿瘤，包括多发性血管纤维瘤、胶原瘤和脂肪瘤。本研究的目的是检测MEN1患者皮肤病变中MEN1基因的等位基因缺失情况。使用荧光原位杂交技术检测了5例MEN1患者的皮肤病变。6个血管纤维瘤、3个胶原瘤和1个脂肪瘤显示MEN1基因的等位基因缺失。在MEN1患者的黑素细胞痣或皮赘中未观察到等位基因缺失。在结节性硬化症患者的血管纤维瘤中也未观察到。这些结果表明，野生型MEN1基因产物功能缺失在MEN1患者血管纤维瘤、胶原瘤和脂肪瘤的发生中起作用。
