Solav Shrikant, Bhandari Ritu
Spect Lab, Nuclear Medicine Services, Kothrud, Pune, Maharashtra, India.
Indian J Nucl Med. 2012 Apr;27(2):119-21. doi: 10.4103/0972-3919.110711.
Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disorder caused by defective tumor suppression gene at 3p25-p26. The gene for VHL disease is found on chromosome 3, and is inherited in a dominant fashion. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop the uncontrolled growth and proliferation. It is characterized by abnormal growth of blood vessels. It strikes the eyes, central nervous system, kidneys, endocrine glands, etc. It predisposes the patient to retinal angiomas, central nervous system hemangioblastoma, renal cell carcinoma (RCC), pheochromocytomas, islet cell tumor of the pancreas, endolymphatic sac tumors, renal, pancreatic, epididymal cysts. We present a case of familial VHL syndrome whose Fluorine 18-fluorodeoxyglucose positron emission tomography-computed tomography scan was truly positive for adrenal pheochromocytoma but was falsely negative for RCC. Review of literature related to this entity is made.
冯·希佩尔-林道（VHL）综合征是一种常染色体显性遗传性疾病，由位于3p25 - p26的肿瘤抑制基因缺陷引起。VHL病的基因位于3号染色体上，以显性方式遗传。VHL基因是一种肿瘤抑制基因。这意味着它在正常细胞中的作用是阻止细胞不受控制地生长和增殖。其特征是血管异常生长。它会侵袭眼睛、中枢神经系统、肾脏、内分泌腺等。它使患者易患视网膜血管瘤、中枢神经系统血管母细胞瘤、肾细胞癌（RCC）、嗜铬细胞瘤、胰腺胰岛细胞瘤、内淋巴囊瘤、肾囊肿、胰腺囊肿、附睾囊肿。我们报告一例家族性VHL综合征病例，其氟-18-氟脱氧葡萄糖正电子发射断层扫描-计算机断层扫描对肾上腺嗜铬细胞瘤呈真阳性，但对肾细胞癌呈假阴性。并对与此实体相关的文献进行了综述。
