Malignant peripheral nerve sheath tumours in neurofibromatosis 1
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
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DOI：
10.1136/jmg.39.5.311
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发表时间：
2002-05-01
影响因子：
4
通讯作者：
Moran, A
中科院分区：
文献类型：
--
作者：
Evans, DGR;Baser, ME;Moran, A
背景：横断面研究表明1-2%的1型神经纤维瘤病（NF1）患者发展为恶性周围神经鞘肿瘤（MPNST）。然而，没有基于人群的纵向研究评估了终生风险。方法：从1984-1996年13年间的英格兰西北部医学遗传学和410万人口的两个来源确定NF1 MPNST患者：西北地区NF1登记和西北地区癌症登记中MPNST患者的记录。结果：21例NF1患者发生MPNST，相当于年发病率为1.6 / 1000，终生风险为8-13%。散发性MPNST 37例。NF1患者诊断为MPNST的中位年龄为26岁，而散发性MPNST患者的中位年龄为62岁
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 Medical Genetics and 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