In the year of 2000, the Shikoku Cancer Center launched Familial Tumor Counseling Services to carry out a variety of research into familial tumors. The aim of its activities is to conduct family medical history surveys and to creat a database. As a general rule, attending physicians use a survey sheet to take a family medical history survey for every inpatient. An investigator checks survey sheets once a week, and if inpatients are recognized as not being surveyed yet, the investigator makes another attempt, either directly by himself or through the physician. With the introduction of this survey system, the quality and quantity of family medical history surveys has gradually improved over time. Recovered survey sheets are examined by physicians belonging to the Familial Tumor Counseling Services. Patients who meet the diagnostic criteria for familial tumor and those who are strongly suspected of having familial tumor are registered in the database, and information about their family medical history is entered. This database is constructed using the commercially available pedigree management software, so called Progeny. Our database is unique, because it can contain not only information about pedigree and basic disease, but also biochemical and imaging data incorporated through our institution,s intranet. This database will provide very useful information for medical care and services to the patients with familial tumor in future.
Tuberous sclerosis complex, a genetically transmitted multi-systemic disorder characterized by systemic hamartomas, is associated with renal lesions in more than 80％ of cases. Most of these are angiomyolipomas and renal cysts. Renal cell carcinoma is rare. An association between tuberous sclerosis and renal cell carcinoma is not clear. Here we report a case of tuberous sclerosis complex associated with renal cell carcinoma. Patient was 18 years old woman and had typical tuberous sclerosis symptoms such as mental retardation, seizures and many dermatologic features. Genetic investigation of the patient confirmed tuberous sclerosis type 2（TSC2）. Her renal symptoms were hematuria and abdominal pain. Renal ultrasonography and computed tomography detected angiomyolipomas, but not renal cell carcinoma. Because of renal hemorrhage, an emergency nephrectomy was done subsequently. Histopathology revealed a multifocal renal cell carcinomas （clear cell carcinoma） with angiomyolipomas. Immunohistochemical analysis of renal cell carcinomas did not show immunoreactivity for HMB-45 antibody, but displayed immunoreactivity with cytokeratin and anti-human epithelial membrane antigen which were frequently associated with sporadic renal cell carcinoma. These results suggest that renal cell carcinoma in this case is not related to angiomyolipoma.