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Analysis of circulating osteoclast and osteogenic precursors in patients with Gorham-Stout disease
M Rossi1, S Terreri1, G Battafarano1
1Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy.
Insights
Gorham-Stout disease (GSD) patients show increased osteoclast precursors and high RANK-L levels, suggesting elevated bone resorption. This finding may aid in GSD diagnosis and treatment strategies.
Area of Science:
- Bone Biology
- Rare Diseases
- Immunology
Background:
- Gorham-Stout disease (GSD) is a rare disorder with unknown causes, marked by bone erosion and angiomatous proliferation.
- Altered bone remodeling is observed in GSD patients, necessitating a deeper understanding of the underlying mechanisms.
- Current diagnosis relies on exclusion criteria, highlighting the need for specific diagnostic markers.
Purpose of the Study:
- To characterize circulating osteoclast and osteogenic precursors in GSD patients.
- To investigate serum levels of key bone remodeling markers in GSD.
- To identify potential diagnostic and therapeutic targets for GSD.
Main Methods:
- Flow cytometry was used to analyze peripheral blood mononuclear cells (PBMCs) from GSD patients and healthy donors.
- ELISA assays measured serum levels of Receptor activator of NF-κB ligand (RANK-L), Osteoprotegerin (OPG), Bone Alkaline Phosphatase (BALP), and Osteocalcin (OCN).
Main Results:
- GSD patients exhibited increased CD16-/CD14+CD11b+ and CD115+/CD14+CD11b+ osteoclast precursors.
- Elevated serum RANK-L levels were observed in GSD patients, correlating with increased bone resorption.
- No significant differences were found in osteogenic precursors or serum levels of BALP and OCN.
Conclusions:
- Circulating osteoclast precursors and RANK-L levels may serve as valuable diagnostic markers for GSD.
- These findings offer potential avenues for developing targeted therapeutic strategies for GSD.
- Further research into bone cell precursors could elucidate GSD pathogenesis and inform clinical management.
Purpose:
Gorham-Stout disease is a very rare disorder characterized by progressive bone erosion and angiomatous proliferation; its etiopathogenesis is still unknown, and diagnosis is still performed by exclusion criteria. The alteration of bone remodeling activity has been reported in patients; in this study, we characterized circulating osteoclast and osteogenic precursors that could be important to better understand the osteolysis observed in patients.
Methods:
Flow cytometry analysis of PBMC (Peripheral Blood Mononuclear Cells) was performed to characterize circulating osteoclast and osteogenic precursors in GSD patients (n = 9) compared to healthy donors (n = 55). Moreover, ELISA assays were assessed to evaluate serum levels of bone markers including RANK-L (Receptor activator of NF-κB ligand), OPG (Osteoprotegerin), BALP (Bone Alkaline Phosphatase) and OCN (Osteocalcin).
Results:
We found an increase of CD16-/CD14+CD11b+ and CD115+/CD14+CD11b+ osteoclast precursors in GSD patients, with high levels of serum RANK-L that could reflect the increase of bone resorption activity observed in patients. Moreover, no significant alterations were found regarding osteogenic precursors and serum levels of BALP and OCN.
Conclusion:
The analysis of circulating bone cell precursors, as well as of RANK-L, could be relevant as an additional diagnostic tool for these patients and could be exploited for therapeutic purposes.
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