希佩尔-林道病相关小脑血管母细胞瘤的长期预后

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Abstract Objective: To observe the long-term outcome of patients with VHL associated cerebellar hemangioblastomas after tumors resection, compared with patients with sporadic cerebellar hemangioblastomas.Methods: Clinical characteristics and long-term outcomes of VHL related cerebellar gioblastomas (n=31) patients were compared with patients with sporadic cerebellar gioblastomas (n=31), matched for tumor size. Sequencing of VHL gene of patients with VHL disease was conducted to determine the gene mutations. Results: Patients with VHL disease were younger than sporadic patients (P<0.001). The median size of tumors showed no difference in two groups. Median postoperative follow-up was 99 (69, 137) months in VHL group and 101 (67, 135) months in sporadic group. Mean RFS was shorter in VHL related patients, compared with sporadic patients (P<0.001). Overall survival was also worse in VHL group (P=0.037). Nine patients in VHL group died (6 from cerebellar hemangioblastomas, 2 from renal cell carcinomas, 1 from pancreatic neuroendocrine tumors). Two sporadic patients died from recurrent cerebellar hemangioblastomas. Four different mutations were found in patients with VHL disease (559c→g, 716g→c, 697c→t, 746tgDel). Conclusion: The long-term prognosis of VHL associated cerebellar hemangioblastomas is still worse than sporadic cerebellar hemangioblastomas even after complete resection. Regular postoperative follow-up and examination of multiple organs is necessary for patients with VHL disease.

Key words： von Hippel-Lindau disease hemangioblastomas cerebellar neoplasms DNA mutational analysis; prognosis

Received: 10 September 2017

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	TU Ming
	HU Shaobo
	ZHENG Weiming

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https://xb.wmu.edu.cn/EN/ OR https://xb.wmu.edu.cn/EN/Y2018/V48/I5/350

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