Evaluation of Soluble Colony Stimulating Factor 1 Receptor (<scp>CSF1R</scp>) in Peripheral Blood as a Diagnostic Marker of <scp>CSF1R</scp>‐Related Disorder (<scp>CSF1R</scp>‐<scp>RD</scp>) in a Murine Model and <scp>CSF1R</scp>‐<scp>RD</scp> Patien
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<sup>+/-</sup> 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 2025;97:397-403.
Authors
- Banglian Hu
- Yun‐wu Zhang (ORCID: https://orcid.org/0000-0002-7152-7630)
- Naian Xiao
- Yuhang Zhou (ORCID: https://orcid.org/0000-0002-2089-5476)
- Zaiqiang Zhang (ORCID: https://orcid.org/0000-0002-0053-3451)
- Honghua Zheng (ORCID: https://orcid.org/0000-0001-7589-2646)
- Chujun Wu (ORCID: https://orcid.org/0000-0003-1810-2331)
- Xin Li (ORCID: https://orcid.org/0000-0002-9466-2659)
- Yanfang Li (ORCID: https://orcid.org/0009-0009-0374-3583)
- Xian Zhang (ORCID: https://orcid.org/0000-0003-3905-0489)
- Zhanxiang Wang (ORCID: https://orcid.org/0000-0003-0405-6194)
- Jianpeng Li (ORCID: https://orcid.org/0000-0003-1848-4974)
- Xiaohua Huang (ORCID: https://orcid.org/0000-0002-7861-8041)
- Yabin Song (ORCID: https://orcid.org/0009-0009-6265-7079)
Institutions
- Capital Medical University (CN)
- Xiamen University (CN)
- First Affiliated Hospital of Xiamen University (CN)
- Third Hospital of Changsha (CN)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1002/ana.27147
- Citations
- 3
- Primary Topic
- Immune cells in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.72
Funders
- National Natural Science Foundation of China