Evaluation of Soluble Colony Stimulating Factor 1 Receptor (CSF1R) in Peripheral Blood as a Diagnostic Marker of CSF1R‐Related Disorder (CSF1R‐RD) in a Murine Model and CSF1R‐RD Patients

Abstract

Mutations in colony stimulating factor 1 receptor (CSF1R) result in CSF1R‐related disorder (CSF1R‐RD). Our previous study demonstrated a proteolytic generation of a soluble CSF1R (sCSF1R) that could potentially serve as a diagnostic biomarker of CSF1R‐RD. Herein, we observed that sCSF1R is released into peripheral serum as a highly glycosylated monomer in Csf1r+/− mice that mimic the clinical symptoms of CSF1R‐RD patients. Notably, we found that serum sCSF1R could distinguish CSF1R‐RD cohorts from controls with high accuracy as evaluated by receiver operating characteristic (ROC) curves. This study demonstrates that reduced sCSF1R in serum may serve as a diagnostic biomarker for CSF1R‐RD. ANN NEUROL 2024