1型神经纤维瘤病中的恶性外周神经鞘瘤
Malignant peripheral nerve sheath tumours in neurofibromatosis 1.
作者信息
Evans D G R, Baser M E, McGaughran J, Sharif S, Howard E, Moran A
机构信息
University Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK.
出版信息
J Med Genet. 2002 May;39(5):311-4. doi: 10.1136/jmg.39.5.311.
BACKGROUND
Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk.
METHODS
NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regional Cancer Registry.
RESULTS
Twenty-one NF1 patients developed MPNST, equivalent to an annual incidence of 1.6 per 1000 and a lifetime risk of 8-13%. There were 37 patients with sporadic MPNST. The median age at diagnosis of MPNST in NF1 patients was 26 years, compared to 62 years in patients with sporadic MPNST (p<0.001). In Kaplan-Meier analyses, the five year survival from diagnosis was 21% for NF1 patients with MPNST, compared to 42% for sporadic cases of MPNST (p=0.09). One NF1 patient developed two separate MPNST in the radiation field of a previous optic glioma.
CONCLUSION
The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.
背景
横断面研究显示，1% - 2%的1型神经纤维瘤病（NF1）患者会发生恶性外周神经鞘瘤（MPNST）。然而，尚无基于人群的纵向研究评估其终生风险。
方法
在1984 - 1996年的13年期间，从两个来源确定了我们英格兰西北部410万人口中的NF1合并MPNST患者：西北部地区NF1登记册以及西北部地区癌症登记处中MPNST患者的病历回顾。
结果
21例NF1患者发生了MPNST，年发病率相当于每1000人中有1.6例，终生风险为8% - 13%。有37例散发性MPNST患者。NF1患者诊断为MPNST的中位年龄为26岁，而散发性MPNST患者为62岁（p<0.001）。在Kaplan - Meier分析中，NF1合并MPNST患者自诊断起的五年生存率为21%，而散发性MPNST病例为42%（p = 0.09）。1例NF1患者在先前视神经胶质瘤的放疗区域发生了两个独立的MPNST。
结论
NF1患者发生MPNST的终生风险远高于先前估计，需要进行仔细监测，并降低检查阈值。
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