Université Paris Est (UPEC), LIC EA4393 (Laboratoire d'Investigation Clinique), F-94010 Créteil, France.
Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51.
To assess associations between subcutaneous neurofibromas (SC-NFs) and internal neurofibromas in patients with neurofibromatosis type 1 (NF-1) and to determine whether the association between SC-NFs and peripheral neuropathy was ascribable to internal neurofibromas.
Prospective multicentre case-control study. Between 2005 and 2008, 110 NF-1 adults having two or more SC-NFs were individually matched for age, sex and hospital with 110 controls who had no SC-NF. Patients underwent standardized MRI of the spinal cord, nerve roots and sciatic nerves and an electrophysiological study. Analyses used adjusted multinomial logistic regression (ORa) to estimate the risk of the presence of internal neurofibromas or peripheral neuropathies associated with patients presented 2 to 9 SC-NFs, at least 10 SC-NFs as compared to patients without any (referential category).
Cases had a mean age of 41 (± 13) years; 85 (80%) had two to nine SC-NFs and 21 (19%) at least ten SC-NFs. SC-NFs were more strongly associated with internal neurofibromas in patients with ten or more SC-NFs than in patients with fewer NF-SCs (e.g., sciatic nerve, aOR = 29.1 [8.5 to 100] vs. 4.3 [2.1 to 9.0]). The association with SC-NFs was stronger for diffuse, intradural, and > 3 cm internal neurofibromas than with other internal neurofibromas. Axonal neuropathy with slowed conduction velocities (SCV) was more strongly associated with having at least ten SC-NFs (aOR = 29.9, 5.5 to 162.3) than with having fewer SC-NFs (aOR = 4.4, 0.9 to 22.0). Bivariate analyses showed that the association between axonal neuropathy with SCV and sciatic neurofibromas was mediated by the association between SC-NFs and sciatic neurofibromas.
The at-risk phenotype of NF-1 patients (i.e. NF-1 patients with SC-NFs) is ascribable to associations linking SC-NFs to internal neurofibromas at risk for malignant transformation and to axonal neuropathies with slowed conduction velocities. Axonal neuropathies with SCV are particularly common in patients with at least ten SC-NFs.
评估神经纤维瘤病 1 型（NF-1）患者皮下神经纤维瘤（SC-NF）与内脏神经纤维瘤之间的相关性，并确定 SC-NF 与周围神经病变之间的相关性是否归因于内脏神经纤维瘤。
这是一项前瞻性多中心病例对照研究。2005 年至 2008 年间，110 例 NF-1 成年患者（年龄、性别和就诊医院与 110 例无 SC-NF 的对照组相匹配）存在 2 至 9 个 SC-NF。所有患者均接受了脊髓、神经根和坐骨神经的标准 MRI 检查和电生理研究。采用校正多项逻辑回归（ORa）分析评估与患者存在 2 至 9 个 SC-NF、至少 10 个 SC-NF 与无任何 SC-NF（参考类别）相比，患者存在内脏神经纤维瘤或周围神经病变的风险。
病例组平均年龄为 41（±13）岁；85 例（80%）存在 2 至 9 个 SC-NF，21 例（19%）存在至少 10 个 SC-NF。与存在较少 NF-SC 的患者相比，存在 10 个或更多 NF-SC 的患者 SC-NF 与内脏神经纤维瘤的相关性更强（例如，坐骨神经，aOR=29.1[8.5 至 100]与 4.3[2.1 至 9.0]）。与其他内脏神经纤维瘤相比，弥漫性、硬脊膜内和>3cm 内脏神经纤维瘤与 SC-NF 的相关性更强。与存在较少 SC-NF 的患者相比，存在至少 10 个 SC-NF 的患者轴索神经病伴传导速度减慢（SCV）的相关性更强（aOR=29.9，5.5 至 162.3）。与存在较少 SC-NF 的患者相比，存在至少 10 个 SC-NF 的患者轴索神经病伴 SCV 与坐骨神经纤维瘤的相关性更强（aOR=4.4，0.9 至 22.0）。双变量分析显示，轴索神经病伴 SCV 与坐骨神经纤维瘤之间的相关性是由 SC-NF 与易发生恶性转化的内脏神经纤维瘤之间的相关性介导的。
NF-1 患者的风险表型（即 NF-1 患者存在 SC-NF）归因于 SC-NF 与内脏神经纤维瘤之间的相关性，而内脏神经纤维瘤有发生恶性转化的风险，并且与传导速度减慢的轴索神经病变相关。伴有 SCV 的轴索神经病在存在至少 10 个 SC-NF 的患者中尤其常见。
