Department of Genetics, University of Alabama, 720 20th Street South, Birmingham, AL, 35294, USA.
Department of Biostatistics, University of Alabama, Birmingham, AL, USA.
Orphanet J Rare Dis. 2018 Feb 7;13(1):31. doi: 10.1186/s13023-018-0772-z.
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions. The purpose of this study is to conduct a prospective natural history study of 22 adults with NF1 over an 8-year period to quantify cutaneous neurofibroma number and size.
The average monthly increase in volume for cutaneous neurofibromas was 0.37 mm in the back region (95% CI (0.23, 0.51), p < 0.0001), 0.28 mm in the abdominal region (95% CI (0.16, 0.41), p < 0.0001), and 0.21 mm in the arm/leg region (95% CI (0.08, 0.34), p = 0.0022). The number of cutaneous neurofibromas significantly increased in the back (slope = 0.032, p = 0.011) and abdominal (slope = 0.018, p = 0.026) regions, while the leg/arm regions retained a positive trend (slope = 0.004, p = 0.055).
The number and volume of cutaneous neurofibromas significantly increased over an 8-year timespan; however, the rate of increase is variable by individual and body region. These findings may provide insight into cutaneous neurofibroma development and benefit researchers considering clinical trials targeting cutaneous neurofibromas.
神经纤维瘤病 1 型（NF1）是一种遗传疾病，其特征是易发生多种良性肿瘤。NF1 的一个主要特征是局部皮肤神经纤维瘤的发生。皮肤神经纤维瘤在 >99%的 NF1 成人中出现，对生活质量有重大负面影响。先前的报告表明，皮肤神经纤维瘤的负担与年龄和妊娠有关，但缺乏纵向数据来确定这些病变的定量自然史。本研究旨在对 22 名 NF1 成人进行为期 8 年的前瞻性自然史研究，以量化皮肤神经纤维瘤的数量和大小。
背部区域皮肤神经纤维瘤的体积平均每月增加 0.37mm（95%CI（0.23，0.51），p<0.0001），腹部区域增加 0.28mm（95%CI（0.16，0.41），p<0.0001），手臂/腿部区域增加 0.21mm（95%CI（0.08，0.34），p=0.0022）。背部（斜率=0.032，p=0.011）和腹部（斜率=0.018，p=0.026）区域的皮肤神经纤维瘤数量显著增加，而腿部/手臂区域保持正趋势（斜率=0.004，p=0.055）。
皮肤神经纤维瘤的数量和体积在 8 年的时间内显著增加；然而，个体和身体区域的增加率是不同的。这些发现可能为皮肤神经纤维瘤的发展提供深入了解，并使考虑针对皮肤神经纤维瘤的临床试验的研究人员受益。
