Pankreatik nöroendokrin tümör ve böbreğin şeffaf hücreli karsinomu: Von Hippel-Lindau Hastalığı

Yıl 2010, Cilt: 9 Sayı: 3, 85 - 88, 01.12.2010

Süleyman Karaköse Murat Akyıldız Melia Zengin Funda Yılmaz Oktay Tekeşin

Öz

Von Hippel-Lindau disease is an autosomal dominant multisystemic cancer syndrome due to a mutation of the Von Hippel-Lindau disease tumor suppressor gene on chromosome 3. The major lesions in Von Hippel-Lindau disease disease include hemangioblastomas in the central nervous system and retina, clear cell renal cell carcinomas, pheochromocytomas, pancreatic tumors, epididymal cystadenomas, endolymphatic sac tumors, carcinoid tumors, and multiple cysts of the kidney, pancreas and epididymis. Most patients have pancreatic involvement in Von Hippel-Lindau disease disease. Pancreatic disease of Von Hippel-Lindau disease includes benign cysts, microcystic adenomas, pancreatic neuroendocrine tumors , and pancreatic metastases of renal cell carcinoma. Pancreatic neuroendocrine tumors should be differentiated from other hypervascular tumors and especially with clear cell morphology, such as renal cell carcinoma and microcystic adenomas. Herein, we report a patient with the diagnosis of Von Hippel-Lindau disease who had malignant neuroendocrine tumorof the pancreas and renal adenocarcinoma.

Anahtar Kelimeler

Von Hippel-Lindau disease, pancreatic involvement, renal cell carcinoma

Pankreatik nöroendokrin tümör ve böbreğin şeffaf hücreli karsinomu: Von Hippel-Lindau Hastalığı

Öz

Von Hippel Lindau hastalığı 3. kromozomdaki Von Hippel Lindau tümör supresör genindeki bir mutasyona bağlı olarak otozomal dominant (kalıtım geçiş gösteren) multisistemik bir kanser sendromudur. Von Hippel Lindau hastalığında major lezyonlar santral sinir sisteminde ve retinadaki hemanjioblastomlar, böbreğin şeffaf hücreli (clear cell) karsinomu, feokromasitoma, pankreas tümörleri, epididimal kist adenomlar, endolenfatik kese tümörleri, karsinoid tümörler ve böbreğin, pankreasın, epididimisin kist adenomlarıdir. Von Hippel Lindau hastalarının bir çoğunda basit kistler, mikrokistik adenomlar, pankreatik nöroedokrin tümörler ve böbrek karsinomunun pankreas metastazları olmak üzere değişik pankreatik lezyonlar görülebilmektedir. Pankreatik nöroedokrin tümörlerin hipervasküler tümörler ve özellikle de böbreğin şeffaf hücreli karsinomu ve mikrokistik adenomlar gibi şeffaf hücreli tümörlerden ayırıcı tanısı yapılmalıdır. Burada pankreas nöroendokrin tümörü ile böbreğin şeffaf hücreli karsinomu olan bir Von Hippel Lindau hastalığı olgusu sunulmaktadır.

Anahtar Kelimeler

Von Hippel Lindau Hastalığı, pankreas, böbreğin şeffaf hücreli karsinomu

Kaynakça

• Joerger M, Koeberle D, Neumann HP, Gillessen S. Von Hippel-Lindau disease--a rare disease important to recognize. Onkologie 2005; 28: 159-63.
• Sano T, Horiguchi H. Von Hippel-Lindau disease. Microsc Res Tech 2003; 60: 159-64.
• Hammel PR, Vilgrain V, Terris B, et al. Pancreatic involvement in Von Hippel-Lindau disease. Gastroenterology 2000; 119: 1087-95.
• Marcos HB, Libutti SK, Alexander HR, et al. Neuroendocrine tumors of the pancreas in Von Hippel-Lindau disease: spectrum of appearances at CT and MR imaging with histopathologic comparison. Radiology 2002; 225: 751-8.
• Friedrich CA. Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer 1999; 86: 2478-82.
• Hough DM, Stephens DH, Johnson CD, Binkovitz LA. Pancreatic lesions in Von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. Am J Roentgenol 1994; 162: 1091-4.
• Mukhopadhyay B, Sahdev A, Monson JP, et al. Pancreatic lesions in Von Hippel-Lindau disease. Clin Endocrinol 2002; 57: 603-8.
• Osawa A, Sumiyama Y, Watanabe M, et al. Single case of renal cell carcinoma and endocrine pancreatic head cancer occurring with Von Hippel-Lindau disease. J Hepatobiliary Pancreat Surg 2006; 13: 174-80.
• Seizinger BR, Rouleau GA, Ozelius LJ, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988; 332: 268-9.
• Neumann HP, Dinkel E, Brambs H, et al. Pancreatic lesions in the Von Hippel-Lindau syndrome. Gastroenterology 1991;101: 465-71.
• Lubensky IA, Pack S, Ault D, et al. Multiple neuroendocrine tumors of the pancreas in Von Hippel-Lindau disease patients: histopathological and molecular genetic analysis. Am J Pathol 1998; 153:223-31.
• Fill WL, Lamiell JM, Polk NO. The radiographic manifestations of Von Hippel-Lindau disease. Radiology 1979; 133: 289-95.
• Neumann HP, Bender BU, Berger DP, et al. Prevalence, morphology and biology of renal cell carcinoma in Von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 1998; 160:1248-54.
• Hoang MP, Hruban RH, Albores-Saavedra J. Clear cell endocrine pancreatic tumor mimicking renal cell carcinoma: a distinctive neoplasm of Von Hippel-Lindau disease. Am J Surg Pathol 2001; 25:602-9.
• Musso C, Paraf F, Petit B, Archambeaud-Mouveroux F, Valleix D, Labrousse F. Pancreatic neuroendocrine tumors and Von HippelLindau disease. Ann Pathol 2000; 20: 130-3.