合并1型神经纤维瘤病和结节性硬化症的混合性错构瘤病患者视神经胶质瘤的快速发展
Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.
作者信息
Erbay Sami H, Oljeski Stephen A, Bhadelia Rafeeque
机构信息
Department of Radiology, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
出版信息
AJNR Am J Neuroradiol. 2004 Jan;25(1):36-8.
Abstract
Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.
摘要
神经纤维瘤病和结节性硬化症中肿瘤形成倾向增加是由于肿瘤抑制基因缺陷所致。尽管神经纤维瘤病和结节性硬化症可能涉及不同的肿瘤抑制基因，但在细胞水平上，这些基因共享相当常见的酶促途径。我们认为，在以下患有混合型 phakomatosis 的罕见病例中，这些基因功能异常导致了对视神经胶质瘤快速生长的累积或叠加效应。
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