Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors.

作者: Karen Stephens

DOI: 10.1081/CNV-120025093

关键词: Variable ExpressionPeripheral Nerve SheathMutationPeripheral nervous systemPathologyBiologyNeurofibromatosisNeurofibromaGeneCarcinogenesis

摘要: Neurofibromatosis 1, an inherited disorder that affects 1/3500 individuals worldwide, predisposes to the development of benign and malignant peripheral nerve sheath tumors. The results from inactivation one NFI genes. second gene is typically inactivated in Schwann cells during tumor formation. This article reviews different types genetic alterations both constitutional tissues other genes may affect tumorigenesis. These studies have provided insight into basis variable expression

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