Gutmann D H, Cole J L, Stone W J, Ponder B A, Collins F S
Department of Neurology, University of Michigan Medical School, Ann Arbor.
Genes Chromosomes Cancer. 1994 May;10(1):55-8. doi: 10.1002/gcc.2870100109.
The neurofibromatosis type I gene encodes a protein, neurofibromin, which may function as a tumor suppressor gene product. Recent studies have demonstrated loss of neurofibromin in tumors from NF1 and non-NF1 patients, including neurofibrosarcomas, neuroblastomas and malignant melanomas. Since neurofibromin is expressed in the adrenal gland, six pheochromocytomas and one adrenal cortical tumor were examined for neurofibromin expression. In all seven tumors, no neurofibromin could be detected. Furthermore, loss of heterozygosity (LOH) analysis demonstrated that in one of the pheochromocytomas, reduction to homozygosity was observed for both 17p and 17q markers while the adrenal cortical tumor demonstrated LOH for only 17q markers. The frequent LOH surrounding the NF1 locus and lack of neurofibromin expression in these tumors suggest that NF1 gene mutations may contribute to the development of adrenal gland neoplasms in patients with NF1.
I型神经纤维瘤病基因编码一种名为神经纤维瘤蛋白的蛋白质，它可能作为一种肿瘤抑制基因产物发挥作用。最近的研究表明，在来自NF1患者和非NF1患者的肿瘤中，包括神经纤维肉瘤、神经母细胞瘤和恶性黑色素瘤，神经纤维瘤蛋白缺失。由于神经纤维瘤蛋白在肾上腺中表达，因此对6例嗜铬细胞瘤和1例肾上腺皮质肿瘤进行了神经纤维瘤蛋白表达检测。在所有7个肿瘤中，均未检测到神经纤维瘤蛋白。此外，杂合性缺失（LOH）分析表明，在其中1例嗜铬细胞瘤中，17p和17q标记均观察到纯合性降低，而肾上腺皮质肿瘤仅17q标记显示杂合性缺失。这些肿瘤中NF1基因座周围频繁的杂合性缺失以及神经纤维瘤蛋白表达缺失表明，NF1基因突变可能在NF1患者肾上腺肿瘤的发生中起作用。
