Neurofilament as a biomarker of neurodegeneration in childhood Langerhans cell histiocytosis: A feasibility study on 273 patients

Résumé fourni par la source

Neurodegeneration (ND) is a severe complication of Langerhans cell histiocytosis (LCH), often leading to progressive neurological decline. We evaluated the usefulness of using plasma and cerebrospinal fluid neurofilament light chain (p- and CSF-NFL) levels as biomarkers to identify and monitor ND-LCH. NFL levels were measured using the single-molecule array for a subset of patients from the French National LCH Registry. NFL levels in 692 plasma and 115 CSF samples from 273 registry-enrolled children were analysed. Based on 84 paired plasma and CSF samples from 67 patients, p- and CSF-NFL levels were strongly correlated (p < 0.0001). The areas under the receiver operating characteristics curves for ND-LCH were 72% (95% confidence interval [CI], 64%-78%) for p-NFL and 94% (95% CI, 88%-98%) for CSF-NFL. The highest p-NFL (13.7 vs. 7.2 pg/mL; z-score 2.3 vs. 0.6) and CSF-NFL (436.9 vs. 65.2 pg/mL) levels were significantly higher for ND-LCH than in no-ND-LCH patients, respectively (p < 0.0001). Plasma NFL levels were not elevated at LCH diagnosis. At LCH diagnosis, p-NFL was not predictive of ND, but it may serve as a minimally invasive screening tool for ND in LCH, although optimal timing remains to be determined.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.