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.

中文翻译：

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Gorham-Stout 病患者循环破骨细胞和成骨前体细胞分析

目的

Gorham-Stout 病是一种非常罕见的疾病，其特征是进行性骨质侵蚀和血管瘤增殖；其发病机制尚不清楚，诊断仍采用排除标准。据报道，患者骨重建活性发生了改变；在这项研究中，我们表征了循环破骨细胞和成骨前体细胞，这对于更好地了解患者中观察到的骨质溶解可能很重要。

方法

对 PBMC（外周血单核细胞）进行流式细胞术分析，以表征 GSD 患者 (n = 9) 与健康供体 (n = 55) 的循环破骨细胞和成骨前体细胞的特征。此外，还通过 ELISA 测定来评估骨标志物的血清水平，包括 RANK-L（NF-κB 配体受体激活剂）、OPG（骨保护素）、BALP（骨碱性磷酸酶）和 OCN（骨钙素）。

结果

^{我们发现GSD患者中CD16 -} /CD14 ⁺ CD11b ⁺和CD115 ⁺ /CD14 ⁺ CD11b ⁺破骨细胞前体细胞增加，血清RANK-L水平较高，这可以反映患者骨吸收活性的增加。此外，未发现成骨前体以及 BALP 和 OCN 血清水平发生显着变化。

结论

对循环骨细胞前体以及 RANK-L 的分析可以作为这些患者的附加诊断工具，并可用于治疗目的。