von Hippel-Lindau disease (VHL) is an autosomal dominant tumor syndrome, associated with central nervous system hemangioblastoma, retinal hemangioma, renal cell carcinoma, pheochromocytoma / paraganglioma, pancreatic neuroendocrine tumor, and endolymphatic sac tumor. In Japan, the patient alliance group was formed in early 2000s, followed by the launch of the VHL research group. Though collaboration between these two groups, epidemiology, clinical features and real-world clinical practice have been clarified. Clinical guidelines for VHL were published based on that achievement. On the other hand, public support for VHL patients is still insufficient. Further development of a system that ensures appropriate and continuous treatment and enhanced healthcare subsidies for VHL patients are needed.

　Central nervous system hemangioblastoma （HB) is a grade 1 tumor classified by the WHO classification and is considered to be benign in nature. It is said that nearly 70% of patients with von Hippel-Lindau (VHL) disease have HB, and it is the most likely disease among VHL diseases. The most common sites of occurrence are the cerebellum, spinal cord, and brainstem, and it often develops as a result of symptoms of increased intracranial pressure (headache, vomiting, etc.) thought to be caused by obstructive hydrocephalus. In VHL disease cases, HB occurs frequently in the spinal cord, and it is often encountered that ADL gradually declines due to worsening of spinal symptoms. The first choice of treatment is surgical removal, but if the risk of removal is high, gamma knife treatment is also performed. Until recently, no effective drug had been approved, but the HIF-2α inhibitor belzutifan was approved by the FDA in August 2021. This article will also outline the treatment system in our department to overcome HB.

　von Hippel-Lindau syndrome is a hereditary tumor for which early detection and early treatment are important. However, clinical diagnosis of the proband may not lead to information sharing and surveillance of relatives. The aim of this study was to explore factors leading from probands’ genetic counseling visits to surveillance visits for relatives. We reviewed 75 genetic counseling records from a 10-year period at Kyoto University Hospital and conducted thematic analysis. The subjects of this study were 41 patients from 26 families. The purpose of the genetic counseling visit was “to undergo genetic testing” (33 clients, 80.5%). The reason for the proband’s visit was “learning that the genetic test results of the proband were necessary for the genetic testing of relatives” (six out of 19 probands, 31.6%). The reason for relatives’ visits was “recommended by parents” (11 out of 22 cases, 50.0%). This study observed various facilitating factors and barriers related to GC visits, undergoing GT, sharing information with relatives, and undergoing surveillance. Our findings suggest that it is important to involve other family members to share the burden, explain the significance of genetic testing and surveillance to the proband, and facilitate genetic counseling appointments.

　Three cancer patients diagnosed with Lynch syndrome (LS) were interviewed online using semi-constructive questioning techniques to explore and elucidate their perceptions of individual circumstances. The results of the analysis yielded four themes, along with seven corresponding categories and 20 subcategories: 1）Preparedness and anxiety about the possibility of developing cancer in one's lifetime, 2）Responsibility and advocacy for children's risk perception and autonomous, 3）Reaching out to others and collaboration, and

4）Establishing a self while living with Lynch syndrome. The participants not only recognized that they were prepared for and had to come to terms with the fact that they had to live with both heredity and cancer, but they also viewed their lives with LS in a positive light, finding value and purpose in their family, work, and hobbies, and establishing themselves. It was also suggested that understanding from others and the development of good relationships may motivate LS to take care of their health.