Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau di
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(2020) 18:21
RESEARCH
Open Access
Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau disease: implications for treatment Zhen Liu1, Liang Li1*† , Zhiqiang Yi1†, Hongzhou Duan1, Runchun Lu1, Chunwei Li1, Lei Li2 and Kan Gong2
Abstract 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: VHL genetic syndrome, Genetic mutation, Hemangioblastoma surgical treatment, Genetic anticipation
* Correspondence: [email protected] † Liang Li and Zhiqiang Yi contributed equally to this work. 1 Department of Neurosurgery, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not in
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