患有1型神经纤维瘤病（NF1）的儿童中的恶性外周神经鞘瘤（MPNST）

Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children.

作者信息

Friedrich R E, Hartmann M, Mautner V F

机构信息

Maxillofacial Surgery, University Hospital Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.

出版信息

Anticancer Res. 2007 Jul-Aug;27(4A):1957-60.

PMID:17649804

Abstract

BACKGROUND

Malignant peripheral nerve sheath tumors (MPNST) constitute a heterogeneous group of malignant tumors that probably arise from cells of the peripheral nerve sheath. Association of MPNST with neurofibromatosis type 1 (NF1) is frequently reported. MPNST contribute significantly to the reduced life-span of NF1-patients. At present there are only sparse data on MPNST in NF1-children. The aim of this study was to determine the outcome of children affected with NF1 who developed an MPNST.

MATERIALS AND METHODS

Over the period of 1985 to 2005, we followed 52 NF1 patients with MPNST at our outpatient department. All patients were diagnosed and re-evaluated according to the updated NIH diagnostic criteria for NF1.

RESULTS

Out of this cohort, 8 patients with MPNST were aged 1 to 17 years at the time of MPNST diagnosis (mean age: 12 years; 5 girls and 3 boys). We noticed the following characteristics: MPNST arose from plexiform neurofibromas (PNF) with invasive or displacing growth pattern on MRI. Many patients reported pain and neurological deficits at the time of presentation. Diagnosis of MPNST in this age group took longer compared to adults. This cohort did not show longer survival periods than adults with MPNST. Adjunctive treatment with chemotherapy or radiation had no lasting effect. The overall survival time of this small cohort was 30.5 months. Those children who died showed a median survival time after diagnosis of 20 months. The longest survival of 112 months was achieved for a girl who presented with MPNST of the distal upper arm and underwent amputation. The NF1 mutation analysis in the MPNST pediatric age group revealed the same mutational spectrum as the adult group.

CONCLUSION

Our data reveal MPNST in children with NF1. Children cannot verbalize physical alterations adequately; therefore the correct diagnosis might be hampered in these patients. Unresolved complaints of children with NF1 should be investigated thoroughly due to the risk for malignancy in NF1.

摘要

背景

恶性外周神经鞘瘤（MPNST）是一组异质性恶性肿瘤，可能起源于外周神经鞘细胞。MPNST与1型神经纤维瘤病（NF1）的关联屡有报道。MPNST是导致NF1患者寿命缩短的重要原因。目前，关于NF1儿童患者MPNST的资料稀少。本研究旨在确定罹患MPNST的NF1儿童患者的预后情况。

材料与方法

1985年至2005年期间，我们在门诊部对52例患有MPNST的NF1患者进行了随访。所有患者均根据最新的美国国立卫生研究院（NIH）NF1诊断标准进行诊断和重新评估。

结果

在该队列中，8例MPNST患者在MPNST诊断时年龄为1至17岁（平均年龄：12岁；5名女孩和3名男孩）。我们注意到以下特征：MPNST起源于丛状神经纤维瘤（PNF），在MRI上呈浸润性或推移性生长模式。许多患者在就诊时报告有疼痛和神经功能缺损。与成人相比，该年龄组MPNST的诊断所需时间更长。该队列患者的生存期并不比成人MPNST患者长。化疗或放疗辅助治疗没有持久效果。这个小队列的总生存时间为30.5个月。死亡的儿童诊断后的中位生存时间为20个月。一名表现为上臂远端MPNST并接受截肢手术的女孩存活了112个月，为最长生存期。MPNST儿童年龄组的NF1突变分析显示与成人组具有相同的突变谱。