Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F
Department of Educational Sciences, Chair of Paediatrics, Catania, Italy; Centre for Neurocutaneous Disorders, University of Catania, Catania, Italy.
Clin Genet. 2015 May;87(5):401-10. doi: 10.1111/cge.12498. Epub 2014 Nov 22.
Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271).
脊柱神经纤维瘤病（SNF）是神经纤维瘤病1型（NF1）的一种相关形式，其特征为所有脊神经根（最终可能累及所有主要外周神经分支）出现双侧神经纤维瘤（经组织学证实），伴有或不伴有经典NF1的其他表现。通过严格将这些标准应用于已发表的98例SNF病例，我们确定了：（i）一组49例SNF患者（21例男性和28例女性；年龄4至74岁）：9个SNF家族（21/49），1个SNF/NF1混合家族（1/49）以及49例散发性SNF患者中的27例（包括本报告中5例未发表的患者）；以及（ii）一组49例非SNF患者，包括：（a）32例有多条但并非所有脊神经根神经纤维瘤的患者（MNFSR）：4个SNF/MNFSR混合家族（6/32）；（b）14例无脊柱神经纤维瘤但有NF1表现的患者，属于SNF家族（8/49）或MNFSR家族（6/32）；（c）3例有一条脊神经根神经纤维瘤的患者。除了咖啡斑发生率降低（SNF中为67%，MNFSR中为56%）外，两组中其他NF1表现的发生率均较低。分子检测显示两组中均存在常见的NF1基因异常。错义突变导致发生SNF而非NF1的风险增加[p = 0.0001；优势比（OR）= 6.16；置信区间（CI）= 3.14 - 13.11]，SNF中的错义突变比MNFSR中更常见（p = 0.0271）。
