Investigating mTOR signaling pathway and sirolimus response in Benign lymphangioendothelioma.

BACKGROUND

Benign lymphangioendothelioma is a rare tumor originating from lymphatic vessels. Its underlying mechanisms remain unclear, and effective therapeutic interventions are limited.

OBJECTIVE

The goal of this study was to investigate the potential hyperactivation of the mTOR signaling pathway in benign lymphangioendothelioma. Additionally, to preliminarily assess the clinical efficacy and safety of the mTOR inhibitor sirolimus in management.

METHODS

Immunohistochemical staining was utilized to evaluate the activation status of mTOR pathway-related proteins in benign lymphangioendothelioma. Three patients with confirmed hyperactivation of the mTOR signaling pathway were administered with oral sirolimus, the clinical efficacy and safety of sirolimus tablets in treating benign lymphangioendothelioma were subsequently monitored.

RESULTS

A total of eight patients were included in this study. Immunohistochemical analysis was conducted on seven patients, overexpression of mTOR-related molecules was observed in each case. Three patients received treatment with oral sirolimus, and all three demonstrated significant regression of their skin lesions, with no notable adverse effects.

CONCLUSION

The activation of mTOR signaling pathway is implicated in the pathogenesis of benign lymphangioendothelioma, suggesting a potential similarity in the underlying mechanisms with lymphatic malformations. The mTOR inhibitor sirolimus demonstrated promising therapeutic efficacy, accompanied by a favorable safety profile.