Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus.

ABSTRACT: Kaposiform hemangioendothelioma (KHE) is an extremely rare, locally aggressive vascular neoplasm. The etiopathogenesis of KHE is still poorly understood. In the present study, we found a new mutation in KHE (c.685delA, p.Thr229fs). The KHE patient with the PIK3CA mutation showed complete regression after sirolimus treatment. We propose that the presence of the PIK3CA mutation in KHE may correlate with good response to sirolimus.

SUBMITTER: Wang Z 

PROVIDER: S-EPMC10235594 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature