希佩尔-林道病相关小脑血管母细胞瘤的长期预后

摘要

Objective: To observe the long-term outcome of patients with VHL associated cerebellar he-mangioblastomas after tumors resection, compared with patients with sporadic cerebellar hemangioblastomas. Methods: Clinical characteristics and long-term outcomes of VHL related cerebellar gioblastomas (n=31) pa-tients were compared with patients with sporadic cerebellar gioblastomas (n=31), matched for tumor size. Se-quencing 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 pa-tients 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.%目的:观察希佩尔-林道(VHL)病相关小脑血管母细胞瘤与散发性小脑血管母细胞瘤患者,并比较两者在肿瘤切除后的预后.方法:选取1990年2月至2013年6月于温州医科大学附属第一医院行手术切除的VHL相关小脑血管母细胞瘤患者31例(VHL组)和散发性小脑血管母细胞瘤患者31例(按肿瘤最大直径进行匹配后,散发组).比较2组临床特征和长期预后,对VHL病患者进行基因测序确定其基因突变位点.调查VHL相关小脑血管母细胞瘤患者的全身肿瘤分布情况.结果:VHL组患者术后随访时间为99(69,137)个月,散发组患者的术后随访时间为101(67,135)月,差异无统计学意义(P>0.05).VHL组患者的发病年龄明显小于散发组患者,差异有统计学意义(P<0.001);2组患者的肿瘤大小差异无统计学意义(P>0.05);VHL组患者的无复发生存时间(RFS)显著小于散发组患者,差异有统计学意义(P<0.001).VHL组患者的总生存时间更短,差异有统计学意义(P=0.037).VHL组中共有9例患者死亡(6人死于小脑血管母细胞瘤,2例死于肾细胞癌,1例死于胰腺神经内分泌瘤),散发组共有2例患者死亡,均死于复发的血管母细胞瘤.在VHL组患者中共发现了4种不同基因突变位点(559c→g, 716g→c,697c→t,746tgDel).结论:相比散发性小脑血管母细胞瘤,VHL相关小脑血管母细胞瘤患者在完整切除后预后较差.