Hemangioblastoma (HB) of the Central Nervous System (CNS)
Conditions
Brief summary
Von Hippel-Lindau (VHL) disease is a severe autosomal dominant genetic disorder (with almost complete penetrance) that predisposes to many tumors including some associated with a poorer outcome. Clear cell renal cell carcinoma (CCRCC) is the leading cause of mortality. The diagnosis of VHL disease may be challenging because tumors have an asynchronous and multi-organ development and there is often no apparent hereditary context. As it is admitted that VHL disease is underdiagnosed, some countries have decided to recall patients presenting one of the potentially VHL disease-associated tumors to screen them for VHL mutation. Screening is currently recommended in guidelines but many patients may have not been previously screened. Hemangioblastoma (HB) of the Central nervous system (CNS) is one of the typical VHL tumors and up to 20% of patients with HB show VHL mutation. VHL diagnosis in this population enables the diagnosis of other tumor types at an early stage of development since HB is chronologically the second tumor occurring during the VHL disease history. But it raises critical problems and questions: difficult announcement of a potentially severe disease and psychosocial dimension related to inheritance of the disease.
Interventions
OTHERevaluation of anxiety with psychosocial scales
Sponsors
Assistance Publique Hopitaux De Marseille
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* age \>=18; * Surgery for a CNS HB in the department of Neurosurgery of la Timone university hospital since 1999 ; * Absence of prior screening for VHL
Exclusion criteria
* minor, * incorrect French language
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| evaluate the impact on anxiety of VHL mutation screening of patients operated for HB | two years | The main objective of this study is to evaluate the impact on anxiety of VHL mutation screening of patients operated for HB |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| assessment of the mood | two years | The evaluation of the mood will be made from Beck's scale. It is about a scale allowing to make a fast self-assessment of the depression |
Other
| Measure | Time frame | Description |
|---|---|---|
| assesment of quality of life | two years | The measure of the quality of life will be made by means of a generic questionnaire: the SF36. The SF36, used for the evaluation of the remote quality of life of the plan of announcement, is validated and available in French language |
| assesment of the psychological consequences of the screening | two years | The psychological consequences of the screening will be estimated by means of Psychological Consequences Questionnaire . It is about a specific instrument allowing to estimate the psychosocial impact of the screening |
Countries
France
Outcome results
None listed