Long-term follow-up of mTOR inhibition for Erdheim-Chester disease
Francesco Pegoraro, Valerio Maniscalco, Francesco Peyronel, Pieter J. Westenend, Tadek R. Hendriksz, Rosa Maria Roperto, Alessandro Palumbo, Elena Sieni, Paola Romagnani, Eric F.H. van Bommel, Augusto Vaglio
Abstract
Two articles this week focus on Erdheim-Chester disease (ECD), a rare histiocytosis that mainly affects adults. Clonal somatic mutations primarily involving proteins in the BRAF and MPAK pathways have established ECD as a myeloid neoplasm, with targeted therapies now available for patients. In the first paper, an international panel presents new consensus recommendations for evaluation and treatment of ECD. In the second paper, Pegoraro and colleagues present long-term outcomes of patients with ECD treated with sirolimus, with responses in patients both with and without BRAF mutations.