以阻塞性無精症為臨床表現之林道症候群案例討論

10.6666/ClinMed.202108_88(2).0087

曾義翔；江奕寬；黃志賢

林道症候群（von Hippel-Lindau disease） ； 阻塞性無精症（obstructive azoospermia） ； 副睪囊腺瘤（epididymal cystadenoma）

臨床醫學月刊

88卷2期（2021 / 08 / 27）

524 - 532

繁體中文

林道症候群（von Hippel-Lindau disease, VHL disease）是一罕見的基因疾病，根據分型的不同，會有不同多發性腫瘤的表現。儘管VHL disease的治療往往仰賴多專科合作（multidisciplinary approach），且患者預期壽命在統計上顯著低於正常人口，然而及早發現疾病並予以介入治療對於臨床預後仍有相當大的幫助。本文藉一VHL disease的案例回顧此疾病的病徵、診斷與治療。

1. VHLA Suggested Active surveillance Guidelines.
2. Alkhotani, A,Butt, B,Khalid, M(2019).Endolymphatic sac tumor at the cerebellopontine angle: A case report and review of literature.Int J Surg Case Rep,58,162-166.
3. Blansfield, JA,Choyke, L,Morita, SY(2007).Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs).Surgery,142,814-818.
4. Campbell, S,Uzzo, RG,Allaf, ME(2017).Renal mass and localized renal cancer: AUA guideline.J Urol,198,520-529.
5. Chauveau, D,Duvic, C,Chrétien, Y(1996).Renal involvement in von Hippel-Lindau disease.Kidney Int,50,944-951.
6. Chittiboina, P,Lonser, RR(2015).Von Hippel-Lindau disease.Handb Clin Neurol,132,139-156.
7. Choyke, PL,Glenn, GM,Wagner, JP(1997).Epididymal cystadenomas in von Hippel-Lindau disease.Urology,49,926-931.
8. Choyke, PL,Glenn, GM,Walther, MM(1992).The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients.AJR Am J Roentgenol,159,1229-1234.
9. Coppin, L,Plouvier, P,Crépin, M(2019).Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.J Mol Diagn,21,462-470.
10. Couvé, S,Ladroue, C,Laine, E(2014).Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Cancer Res,74,6554-6564.
11. Ivan, M,Kondo, K,Yang, H(2001).HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.Science,292,464-468.
12. Keith, B,Johnson, RS,Simon, MC(2011).HIF1α and HIF2α: sibling rivalry in hypoxic tumour growth and progression.Nat Rev Cancer,12,9-11.
13. Kim, HJ,Hagan, M,Butman, JA(2013).Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: Findings, results, and indications.Laryngoscope,123,477-483.
14. Kobayashi, T,Dynlacht, BD(2011).Regulating the transition from centriole to basal body.J Cell Biol,193,435-444.
15. Lai, Y,Song, M,Hakala, K(2011).Proteomic dissection of the von Hippel-Lindau (VHL) interactome.J Proteome Res,10,5175-5182.
16. Lonser, RR,Glenn, GM,Walther, M(2003).von Hippel-Lindau disease.Lancet,361,2059-2067.
17. Maher, ER,Kaelin, WG., Jr.(1997).von Hippel-Lindau disease.Medicine,76,381-391.
18. Maher, ER,Yates, JR,Harries, R(1990).Clinical features and natural history of von Hippel-Lindau disease.Q J Med,77,1151-1163.
19. Neumann, HP,Dinkel, E,Brambs, H(1991).Pancreatic lesions in the von Hippel-Lindau syndrome.Gastroenterology,101,465-471.
20. Nielsen, SM,Rubinstein, WS,Thull, DL(2011).Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.Am J Med Genet A,155(A),168.
21. Ohh, M,Yauch, RL,Lonergan, KM(1998).The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix.Mol Cell,1,959-968.
22. Pyke, CM,van Heerden, JA,Colby, TV(1992).The spectrum of serous cystadenoma of the pancreas. Clinical, pathologic, and surgical aspects.Ann Surg,215,132-139.
23. Roe, JS,Kim, HR,Hwang, IY(2011).von Hippel-Lindau protein promotes Skp2 destabilization on DNA damage.Oncogene,30,3127-3138.
24. Schofield, CJ,Ratcliffe, PJ(2004).Oxygen sensing by HIF hydroxylases.Nat Rev Mol Cell Biol,5,343-354.
25. Shen, T,Zhuang, Z,Gersell, DJ(2000).Allelic Deletion of VHL Gene Detected in Papillary Tumors of the Broad Ligament, Epididymis, and Retroperitoneum in von Hippel-Lindau Disease Patients.Int J Surg Pathol,8,207-212.
26. Singh, AD,Nouri, M,Shields, CL(2002).Treatment of retinal capillary hemangioma.Ophthalmology,109,1799-1806.
27. van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau Syndrome. 2000 May 17 (Updated 2018 Sep 6). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® (Internet]. Seattle (WA): University of Washington, Seattle 1993-2020.
28. Varshney, N,Kebede, AA,Owusu-Dapaah, H(2017).A Review of Von Hippel-Lindau Syndrome.J Kidney Cancer VHL,4,20-29.
29. Zbar, B,Kishida, T,Chen, F(1996).Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.Hum Mutat,8,348-357.