J Psychosoc Oncol. 2018 May 15:1-11. doi: 10.1080/07347332.2018.1450320. [Epub ahead of print]
Psychological impact of von Hippel-Lindau genetic screening in patients with a previous historyof hemangioblastoma of the central nervous system.
Rochette C1, Baumstarck K2, Canoni-Zattara H3, Abdullah AE1, Figarella-Branger D4, Pertuit M5, Barlier A5, Castinetti F1, Pacak K6, Metellus P7, Taïeb D8.
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs. Eleven patients were already screened for VHL mutations and 3 patients deceased before the start of the study. From the remaining 42 patients, 24 were accepted to be enrolled in the study. Assessment of psychological impact of VHL genetictesting was performed by measuring anxiety levels, mood disorders, quality of life, and psychological consequences of genetic screening. Twenty-one of the enrolled 24 patients underwent VHL genetic testing and 12 patients came back for the communication of positive geneticresults. The baseline psychological status did not differ between these 2 groups. Patients who attended the visit of communication of geneticresults had similar anxiety levels compared to those who had not. Furthermore, they also experienced an improvement in the level of anxiety and two QoL dimension scores compared to their baseline status. In summary, there is no evidence of a negative psychosocial impact of VHL genetic testing in patients with a previous history of CNS HB. We, therefore, recommend the recall of patients who have not been previously screened.
anxiety/depression; genetic testing; hemangioblastoma; quality of life; von hippel-lindau
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