- 學位論文
逢希伯-林道症候群的分子遺傳學及檢測方法回顧
Molecular Genetics and Diagnosis in Von Hippel-Lindau Syndrome
摘要
Von Hippel-Lindau(VHL)是一種罕見的常染色體顯性遺傳疾病，可導致多種癌症及腫瘤的發生，其中包括中樞神經系統中的血管母細胞瘤、視網膜血管母細胞瘤、嗜鉻細胞瘤、腎細胞癌、腎囊腫、胰腺囊腺瘤和胰腺神經內分泌腫瘤。有研究發現此疾病與缺氧誘導因子(HIF)有密切關係：在pVHL功能下降前提下，HIF相關靶基因通路會被激活，細胞因子VEGF 、EGF、PDGF和TGF-α等會出現過度表達情況，從而促進癌症及腫瘤的發生。在現今檢測科技日益成熟下，研究學者及臨床醫師都發展出一系列檢測及治療手段來幫助患者，本論文探討有關VHL疾病的分子發病機理，分類和治療原則的觀點。並整理不同VHL患者的基因突變類型、臨床病徵和分子生物學檢測方法。希望有助日後其他研究學者了解此遺傳疾病的發病機制，從而對患者及醫護帶來指導幫助。
並列摘要
Von Hippel-Lindau (VHL) is a rare autosomal dominant genetic disease that can cause a variety of cancers and tumors, including hemangioblastoma, retinal hemangioblastoma, pheochromocytoma, renal cell carcinoma. Although a lot of researchers are trying to discover the principal of the disease. The mechanism of the disease and the mutation hotspots are still unclear. Studies have found that the disease is closely related to hypoxia-inducible factor (HIF). Under the premise of pVHL function decline, HIF-related target gene pathways will be activated, and cytokines VEGF, EGF, PDGF, and TGF-α will be overexpressed. Promote the occurrence of cancer and tumors. With the increasingly mature detection technology, researchers have developed a series of detection and treatment methods to help patients. In this thesis, we summarize the molecular pathogenesis and classification. And sort out the gene mutation types, clinical symptoms and molecular biology detection methods of different VHL patients, which will help other researchers in the future to understand the pathogenesis of this genetic disease, so as to bring guidance and help to patients and medical care.