Objective: Central nervous system (CNS) hemangioblastomas (HGBs) are the most frequent cause of mortality in patients with von Hippel-Lindau (VHL) genetic syndrome. However, there is a lack of large studies on the clinical features and optimal management of HGBs in Chinese patients.
Methods: VHL-related HGB cases treated surgically at our hospital from 2012 to 2019 were evaluated. Patients and family members meeting the clinical diagnostic criteria underwent genetic testing. Clinical, genetic and relevant imaging data were analyzed.
Results: Eighty-five VHL patients from 34 pedigrees in 16 Chinese provinces who underwent 121 operations for CNS HGBs were enrolled. Multiple operations were associated with a younger age at first operation (OR = 0.926, 95% CI = 0.871-0.985, P = 0.014, threshold: 27.5, sensitivity: 72.2%, specificity: 71.2%) and a longer postoperative period (OR = 1.096, 95% CI = 1.015-1.184, P = 0.019, threshold: 10.5, sensitivity: 66.7%, specificity: 76.3%). The age at first operation was younger in children than in their parents (23 pairs, P < 0.001). The age at first operation was younger in siblings born later than in those born earlier (10 pairs, P = 0.01). Most untreated tumors (98.2%) remained relatively stable during follow-up (range, 0.5-7; median, 2). However, new tumors continued to emerge (0.14 tumor/year).
Conclusion: VHL-associated CNS HGB is a long-term chronic disease with repeated attacks, likely with genetic anticipation in Chinese pedigrees. When the age at first operation is under 27.5 years, or the postoperative period is longer than 10.5 years, the risk of multiple operations is increased. While most unresected HGBs remain stable after surgery, new tumors may still slowly emerge; hence, scheduled follow-ups are necessary.
Keywords: Genetic anticipation; Genetic mutation; Hemangioblastoma surgical treatment; VHL genetic syndrome.
© The Author(s) 2020.