Twenty-eight raters, divided into four cohorts based on neurofibromatosis type 1 familiarity and clinical experience, were shown photographs of children in a clinical trial (NCT01362803) at baseline and 1 year on selumetinib treatment for plexiform neurofibromas (n = 20) and of untreated participants with plexiform neurofibromas (n = 4). Raters, blinded to treatment and timepoint, completed the 0-10 disfigurement severity score for plexiform neurofibroma on each image (0 = not at all disfigured, 10 = very disfigured). Raters evaluated the ease of completing the scale, and a subset repeated the procedure to assess intra-rater reliability.
Mean baseline disfigurement severity score for plexiform neurofibroma ratings were similar for the selumetinib group (6.23) and controls (6.38). Mean paired differences between pre- and on-treatment ratings was -1.01 (less disfigurement) in the selumetinib group and 0.09 in the control (p = 0.005). For the disfigurement severity score for plexiform neurofibroma ratings, there was moderate-to-substantial agreement within rater cohorts (weighted kappa range = 0.46-0.66) and agreement between scores of the same raters at repeat sessions (p > 0.05). In the selumetinib group, change in disfigurement severity score for plexiform neurofibroma ratings was moderately correlated with change in plexiform neurofibroma volume with treatment (r = 0.60).
This study demonstrates that our observer-rated disfigurement severity score for plexiform neurofibroma was feasible, reliable, and documented improvement in disfigurement in participants with plexiform neurofibroma shrinkage. Prospective studies in larger samples are needed to validate this scale further.
方法:28名评估者,根据对1型神经纤维瘤病的熟悉程度和临床经验分为四个队列,显示了一项临床试验(NCT01362803)中的儿童在基线和使用司美替尼治疗丛状神经纤维瘤1年(n=20)和未经治疗的丛状神经纤维瘤参与者(n=4)的照片.评价者,对治疗和时间点视而不见,在每张图像上完成丛状神经纤维瘤的0-10毁容严重程度评分(0=完全没有毁容,10=非常毁容)。评估员评估了完成量表的难易程度,和一个子集重复该程序以评估评分者内部的可靠性。
结果:对于司美替尼组(6.23)和对照组(6.38),丛状神经纤维瘤评分的平均基线毁容严重程度评分相似。司米替尼组治疗前和治疗中评级之间的平均配对差异为-1.01(毁容较少),对照组为0.09(p=0.005)。对于丛状神经纤维瘤的毁容严重程度评分,评估者队列中存在中度到实质的一致性(加权kappa范围=0.46-0.66),重复会话时相同评估者的评分之间存在一致性(p>0.05).在selumetinib组中,丛状神经纤维瘤的毁容严重程度评分的变化与治疗后丛状神经纤维瘤体积的变化呈中度相关(r=0.60).
结论:这项研究表明,我们的观察者评估丛状神经纤维瘤的毁容严重程度评分是可行的,可靠,并记录了丛状神经纤维瘤收缩参与者的毁容改善。需要在更大样本中进行前瞻性研究以进一步验证该量表。