A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.
نویسندگان
چکیده
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS.
منابع مشابه
Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report.
Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...
متن کاملMeningeal Supratentorial Hemangioblastoma in a Patient with Von Hippel-Lindau Disease Mimicking Angioblastic Menigioma
Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratent...
متن کاملDiagnosis of von Hippel-Lindau disease in a patient with blindness resulting from bilateral optic nerve hemangioblastomas.
Hemangioblastomas are uncommon tumors that occur mostly in the cerebellum, medulla, and spinal cord. Supratentonal hemangioblastomas are rare [i ], and hemangioblastomas of the optic nerve have, to our knowledge, been reported in only eight previous cases, all of which were unilateral [2, 3]. We report a case of bilateral optic nerve hemangioblastomas, in which the resultant visual loss was the...
متن کاملUnusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...
متن کاملVon Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-year-old man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation....
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Cancer research and treatment : official journal of Korean Cancer Association
دوره 48 1 شماره
صفحات -
تاریخ انتشار 2016