Analysis of circulating osteoclast and osteogenic precursors in patients with Gorham-Stout disease

M Rossi; S Terreri; G Battafarano; I Rana; P S Buonuomo; L Di Giuseppe; M D'Agostini; O Porzio; J Di Gregorio; Cristiana Cipriani; A Jenkner; M V Gonfiantini; A Bartuli; A Del Fattore

doi:10.1007/s40618-024-02365-8

Analysis of circulating osteoclast and osteogenic precursors in patients with Gorham-Stout disease

J Endocrinol Invest. 2024 Apr 1. doi: 10.1007/s40618-024-02365-8. Online ahead of print.

Authors

M Rossi¹, S Terreri¹, G Battafarano¹, I Rana², P S Buonuomo², L Di Giuseppe³, M D'Agostini⁴, O Porzio^{4

5}, J Di Gregorio⁶, Cristiana Cipriani³, A Jenkner⁷, M V Gonfiantini², A Bartuli², A Del Fattore⁸

Affiliations

¹ Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy.
² Rare Diseases and Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Department of Clinical, Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University, Rome, Italy.
⁴ Clinical Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁵ Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy.
⁶ Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
⁷ Pediatric Palliative Care Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁸ Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy. andrea.delfattore@opbg.net.

PMID: 38556572
DOI: 10.1007/s40618-024-02365-8

Abstract

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.

Keywords: Diseases and disorders related to bone; Gorham-stout disease; Osteoclast precursors; Osteoclasts.

Abstract

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