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Zhang Q.,Capital Medical University | Zhang Q.,China National Clinical Research Center for Neurological Diseases | Zhang Q.,Beijing Key Laboratory of Brain Tumor | Li D.-L.,Capital Medical University | And 20 more authors.
Journal of Neuro-Oncology

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic disorder characterized by marked phenotypic variability and age-dependent penetrance. This disease is caused by germline mutations in the VHL tumor suppressor gene. Systematic physical examinations, imaging assessments and molecular genetic tests for the VHL gene were performed in a large Chinese VHL family. The examined Chinese VHL family, which has 25 members from four generations, including 7 diagnosed VHL patients and 2 asymptomatic mutation carriers. The average ages of first onset for generations I, II, and III were 37, 30 and 16, respectively. The male:female ratio among VHL patients was 6:1. Molecular genetic investigations detected the c.433C>T [p.Q145X] nonsense mutation in the VHL gene. Molecular modeling of the VHL-ElonginC- ElonginB-HIF-1α complex predicted that the p.Q145X mutation markedly alters the L7 loop structure of the β-domain of the VHL protein (pVHL), destabilizes the VHL-HIF-1αcomplex, and induces the truncation of pVHL. We speculate that the p.Q145X nonsense mutation leads to relatively obvious familial aggregation. This mutation causes the type I phenotype of VHL disease and is associated with a high risk of retinal and central nervous system (CNS) hemangioblastomas (HGBs) and visceral cysts, but a low risk of renal cell carcinoma. Moreover, within a VHL family, the average ages of first onset became younger in successive generations, and the CNS HGBs are more likely to occur in male patients. © 2015, Springer Science+Business Media New York. Source

Zhang P.,Capital Medical University | Zhang P.,China National Clinical Research Center for Neurological Diseases | Zhang P.,Beijing Key Laboratory of Brain Tumor | Wang X.,Capital Medical University | And 24 more authors.
World Journal of Surgical Oncology

Background: Unilateral adult thalamic gliomas are rarely reported. In this study, the authors aimed to analyze the clinical, radiological, and pathological features of adult primary unilateral thalamus gliomas (UTGs). Methods: Clinical data of 33 UTGs in adults who underwent surgical treatment between 2005 and 2014 at the Beijing Tiantan Hospital were collected and retrospectively studied. Follow-up evaluation was performed. Results: This study included 21 males and 12 females with a mean age of 43.1 years. The most common symptoms were headache (75.8 %, 25/33 patients) and motor deficits (42.4 %, 14/33 patients). Radiological results showed that enhancement was common (90.9 %, 30/33 patients) and included cystic appearances in 9 cases (27.3 %). All patients underwent maximal safe tumor resection. Gross total resection (GTR) was achieved in 19 cases, subtotal resection (≥80 %) in 9 cases, and partial resection (<80 %) in 5 cases. Molecular pathology results were available in 15 cases. After surgery, 25 patients received postoperative adjuvant therapy based on the remaining pathology. The median follow-up period of all 33 patients with UTGs was 17 months (1 week~49 months). Twenty-four patients experienced tumor recurrence. The 1-year and 2-year progression-free survival (PFS) rates were 49.0 and 10.2 %, respectively. The 1-year and 2-year overall survival (OS) rates were 68.1 and 25.9 %, respectively. Survival analyses revealed that several predictive factors were correlated with better prognosis, among which, GTR and tumor with cystic appearances were significantly associated with a longer survival. Conclusions: Adult UTGs displayed a wide spectrum of clinical features. GTR can be achieved in adult UTGs with acceptable complications and conferred a better prognosis. Tumor with cystic appearance may indicate better prognosis. More patients and longer follow-up periods are needed to further elucidate the biological features of adult UTGs. © 2016 Zhang et al. Source

Ma J.-P.,Capital Medical University | Ma J.-P.,China National Clinical Research Center for Neurological Diseases | Ma J.-P.,Beijing Institute for Brain Disorders | Ma J.-P.,Beijing Key Laboratory of Brain Tumor | And 36 more authors.
World Neurosurgery

Objective To propose and further validate a basic progression scoring system for patients with skull base chordoma. Methods All patients (n = 170) undergoing operation for skull base chordoma were classified randomly into a training (n = 113) or validation set (n = 57). In the training set, adverse factors for progression were analyzed by univariate and multivariate analyses. Significant independent factors were included into the scoring system. Scores for each risk category were allocated 1 point and each protection category 0 point. Three prognostic groups were formed on the basis of total score. The same scoring and grouping dispositions were made in the validation set. Analyses of the differences among the 3 groups in individual sets with regard to recurrence and the comparisons between the corresponding prognostic groups of both sets were all carried out by the Kaplan-Meier method. Results In the training set, age, treatment history, preoperative Karnofsky performance scale, pathology, and features on magnetic resonance imaging were all significant independent factors and were included into the scoring system. According to the total score, 3 prognostic groups were formed, group A (0-1 points), group B (2-3 points), and group C (3-4 points), respectively. The pairwise comparisons between every 2 of 3 groups in the training set showed significance with P < 0.001, whereas in validation set, a log-rank test showed significance, P ≤ 0.001 (log-rank test). The comparisons between the corresponding prognostic groups of both sets did not show significance. Conclusions The basic progression scoring system for patients with skull base chordoma is valid and reproducible. © 2016 Elsevier Inc.All rights reserved. Source

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