Lawson McLean Anna C, Löschner Denise, Farschtschi Said, Dengler Nora F, Rosahl Steffen K
Department of Neurosurgery, University Hospital Jena, Am Klinikum 1, 07747, Jena, Germany.
Department of Neurosurgery, Helios Klinikum Erfurt, Erfurt, Germany.
Orphanet J Rare Dis. 2025 Jan 6;20(1):4. doi: 10.1186/s13023-024-03512-3.
NF2-related schwannomatosis (NF2) is associated with various tumors of the central and peripheral nervous system. There is a wide range of disabilities these patients may suffer from and there is no validated clinical classification for disease severity. We propose a clinical classification consisting of three severity grades to assist in patient management.
Patient records from 168 patients were screened for most common diagnoses with severe impact on everyday tasks, social interactions and life expectancy. Eight main categories were identified. One point was assigned to each category. Three severity grades were differentiated as follows: grade 1 (mild NF2): 0 points; grade 2 (moderate NF2): < 3 points; grade 3 (severe NF2): ≥ 3 points. This grading system was then evaluated with respect to inter-rater reliability and clinical significance.
The patients were grouped according to our new clinical grading system into grade 1 in 48% (n = 80), grade 2 in 43% (n = 72), and grade 3 in 10% of patients (n = 16). There was substantial inter-rater reliability between 3 raters with different levels of clinical experience (Fleiss' kappa = 0.62). The severity grades correlated significantly with hospitalization, number of operations and dependency on implants (such as cochlear implant, auditory brain-stem implants or ventriculoperitoneal shunts).
Clinical disease severity of NF2 patients is reflected in a simplified and rater-independent score with three grades. The score facilitates communication for medical personnel of varying experience and backgrounds, and adds a clinical tool to decision-making and research.
与神经纤维瘤病2型（NF2）相关的神经鞘瘤病与中枢和周围神经系统的各种肿瘤有关。这些患者可能会出现各种各样的残疾，并且对于疾病严重程度没有经过验证的临床分类。我们提出了一种由三个严重程度等级组成的临床分类，以协助患者管理。
对168例患者的病历进行筛查，以找出对日常任务、社交互动和预期寿命有严重影响的最常见诊断。确定了八个主要类别。每个类别给予一分。区分出三个严重程度等级如下：1级（轻度NF2）：0分；2级（中度NF2）：<3分；3级（重度NF2）：≥3分。然后对该分级系统的评分者间可靠性和临床意义进行评估。
根据我们新的临床分级系统，患者被分为1级的占48%（n = 80），2级的占43%（n = 72），3级的占10%（n = 16）。三位具有不同临床经验水平的评分者之间具有较高的评分者间可靠性（Fleiss' kappa = 0.62）。严重程度等级与住院情况、手术次数以及对植入物（如人工耳蜗、听觉脑干植入物或脑室腹腔分流管）的依赖程度显著相关。
NF2患者的临床疾病严重程度通过一个简化的、与评分者无关的三分制评分来体现。该评分便于不同经验和背景的医务人员进行沟通，并为决策和研究增加了一种临床工具。
