Clinical Analysis Of Renal Tumor In Patients With Von Hippel-Lindau Disease

ObjectiveTo investigate clinical features of renal tumor in patients of von Hippel-Lindau disease.MethodsClinical data, including onset, family history, involvement of relevant systems or organs, tumor size, status of metastasis, management, and events in the followup, were analyzed and reviewed. The renal tumor presentation and disease course are compared with data from cases of the same period of sporadic renal cell cancer as controlled.ResultsFrom May,1991 to Nov. 2005, 9 cases of renal tumor with von-Hippel-Lindau disease were diagnosed. 5 of the 9(belonging to 3 different families) had positive evidence of heredity. All together 16 kidneys were found with renal cell cancer. Renal tumor presentation has vey significant difference between VHL disease group and sporadic renal cell cancer control group in the aspects of bilateralness, ipsilateral multicentricity and cystic growth pattern (p<0.001). 4 nephrectomy, 3 parenchymal sparing surgery, 1 nephrectomy together with renal vein thrombus removal and 1 open biopsy were performed. 2 patients received no surgery for refusal. During the average follow-up period of 54 months, 4 died of renal cell cancer(metastases 3/4). Renal tumor diameter exceeded 6 cm when metastasized. Of the 3 who underwent parenchymal sparing surgery, 1 recurred at 46th month, with the maximal diameter of original tumors 3.5 cm. The survival was not significantly longer for VHL patients when compared with sporadic renal cell cancer (p>0.05), however, a better tendency of VHL disease over sporadic renal cell cancer showed in the curve of survival tables.Conclusionsvon Hippel-Lindau disease has strong hereditary etiology. Apart from renal cell carcinomas and cysts, tumors in other organs are also involved in the clinical presentation. Diagnosis is based on the renal tumor with family history or with other exrenal major presentation, and pathological confirmation of clear cell carcinoma. VHL disease should be considered when renal tumors presented as bilateral, multicentric or with cystic growth pattern. Management should be invidualized with tight observation of renal tumor change in combination with nephron sparing surgery when metastasis potential grows. Nephrectomy is avoided when possible. A close surveillance and genetic testing, if possible, is of importance for the patients and their family members at risk...