Multipl sklerozda serum nörofilament hafif zincirinin klinik faydası: tanısal doğruluk ve fenotipik farklılaşma

Abstract

Amaç: Multipl skleroz (MS), ilerleyici, heterojen, nöroinflamatuar ve nörodejeneratif bir hastalıktır ve hem kısa hem de uzun vadeli prognozu tahmin etmek zordur. Bu çalışma, MS hastalarında serum nörofilament hafif zincir (sNfL) düzeylerinin tanısal ve fenotipik değerini değerlendirmeyi ve bu düzeyler ile klinik ve laboratuvar parametreleri arasındaki ilişkiyi incelemeyi amaçlamaktadır. Gereç ve Yöntemler: Çalışmaya yaş ve cinsiyet uyumlu 86 MS hastası ve 86 sağlıklı kontrol dahil edildi. Serum örnekleri, sNfL düzeylerini ölçmek için ticari bir ELISA kiti kullanılarak analiz edildi. Rutin biyokimya ve tam kan sayımı sonuçları kaydedildi. Tüm verilerin tanısal doğruluğunu ve fenotipik ayrımını değerlendirmek için lojistik regresyon, korelasyon analizleri, ROC eğrileri ve kısmi en küçük kareler ayırıcı analizi (PLS-DA) kullanıldı. Bulgular: sNfL düzeyleri MS'li hastalarda sağlıklı kontrollere kıyasla anlamlı derecede daha yüksekti (medyan 21.2–4.21 ng/L; p<0.001). Çok değişkenli analizde, sNfL MS'nin bağımsız bir öngörücüsüydü (OR=1.20; p=0.002). ROC analizi 0.856'lık bir AUC ortaya koydu; 14.9 ng/L'nin üzerindeki bir kesme değeri %61 duyarlılık ve %94 özgüllük sağladı. PLS-DA, sNfL'nin diğer laboratuvar parametreleri arasında en güçlü ayırt edici değişken olduğunu gösterdi. Fenotip analizinde, sNfL düzeyleri ilerleyici MS grubunda relapsing-remitting MS grubuna kıyasla anlamlı derecede daha yüksekti (61.6–4.0 ng/L; p<0.001) ve ROC analizi fenotip ayrımında mükemmel performans gösterdi (AUC=0.92; eşik=32.9 ng/L). Sonuç: sNfL, MS tanısı ve ilerleyici fenotipin ayırt edilmesi için güçlü ve bağımsız bir biyobelirteçtir. Rutin biyokimyasal değerlendirmelere entegre edilmesi, erken tanı, hastalık takibi ve prognoz belirlemeyi kolaylaştırabilir.

Keywords

• Biyobelirteç
• Demyelinizan hastalıklar
• Hastalık progresyonu
• Multipl skleroz
• Nörofilament hafif zincir

Clinical utility of serum neurofilament light chain in multiple sclerosis: diagnostic accuracy and phenotypic differentiation

Abstract

Aims: Multiple sclerosis (MS) is a progressive, heterogeneous, neuroinflammatory, and neurodegenerative disease, and predicting both short- and long-term prognoses is challenging. This study aimed to evaluate the diagnostic and phenotypic value of serum neurofilament light chain (sNfL) levels in patients with MS and to examine the relationship between these levels and clinical and laboratory parameters. Methods: The study included 86 age- and sex-matched MS patients and 86 healthy controls. Serum samples were analyzed using a commercial ELISA kit to measure the sNfL levels. Routine biochemistry and complete blood count results were recorded. Logistic regression, correlation analyses, ROC curves, and partial least squares discriminant analysis (PLS-DA) were used to assess the diagnostic accuracy and phenotypic discrimination of all data. Results: sNfL levels were significantly higher in patients with MS than in healthy controls (median 21.2 vs. 4.21 ng/L; p<0.001). In the multivariate analysis, sNfL was an independent predictor of MS (OR=1.20; p=0.002). ROC analysis revealed an AUC of 0.856; a cut-off value above 14.9 ng/L provided 61% sensitivity and 94% specificity. PLS-DA showed that sNfL was the strongest discriminatory variable among the other laboratory parameters. In phenotype analysis, sNfL levels were significantly higher in the progressive MS group than in the relapsing-remitting MS group (61.6 vs. 14.0 ng/L; p<0.001), and ROC analysis showed excellent performance in phenotype discrimination (AUC=0.92; threshold=32.9 ng/L). Conclusion: sNfL is a powerful and independent biomarker for the diagnosis of MS and the differentiation of the progressive phenotype. Its integration into routine biochemical assessments may enhance early diagnosis, disease monitoring and prognostication.

Keywords

• Biomarker
• demyelinating diseases
• disease progression
• multiple sclerosis
• neurofilament light chain

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