Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.

摘要: Composite tumor of pheochromocytoma and neuroblastoma, or ganglioneuroma, ganglioneuroblastoma (composite pheochromocytoma), also known as mixed neuroendocrine neural tumor, are sometimes combined with neurofibromatosis type 1 (NF1). To better understand the relationship between NF1 composite pheochromocytoma, an immunohistochemical study using anti-neuro-fibromin that is gene product DNA sequence Exon 31 were carried out in five cases various tumors from patients NF1. Neurofibromin was not expressed Schwann cells sustentacular pheochromocytomas very weakly negatively neurofibroma patients. However, it strongly ganglionic mucosal ganglioneuromas, a gangliocytic paraganglioma, Although there no mutation 31, could be ruled mutations other sites gene. insufficiency may induce abnormal proliferation well neurofibromatosis.