Pulmonary Erdheim-Chester Disease With BRAF-AGAP3 Fusion: Late-Onset Osteolytic Femoral Lesions Despite Long-Term Pulmonary Stabilization With Corticosteroid.

Abstract

Erdheim-Chester disease (ECD) is a rare inflammatory myeloid neoplasm affecting multiple systems and organs. The patient is a 38-year-old male with ECD complicated with pulmonary and cutaneous manifestations but without bone lesions diagnosed in 2008. Initial treatment with oral and inhaled corticosteroids achieved persistent favorable disease remission. However, atypical late-onset bone lesions developed in the bilateral femur in 2021. Although BRAF-V600E mutation was negative in the lung specimen at diagnosis, the next-generation gene sequence using biopsied bone lesions revealed a rare BRAF-AGAP3 fusion, leading to the administration of trametinib. This is the first report describing ECD harboring BRAF-AGAP3 fusion successfully treated with trametinib. Our case presents a unique clinical course in which late-onset osteolytic bone lesions developed despite a long-term stabilization of pulmonary lesions with low-dose oral and inhaled corticosteroids.

• Authors: Koichi Nishino, Tatsuya Takagi, Takuo Hayashi, Shinya Kunimine, Hitoshi Tsuchihashi, Shunsuke Kato, Kazuhisa Takahashi, Kuniaki Seyama
• Journal: Cureus (Cureus) Vol. 16 Issue 3 Pg. e55670 (Mar 2024) ISSN: 2168-8184 [Print] United States
• PMID: 38586706 (Publication Type: Case Reports)
• Copyright: Copyright © 2024, Nishino et al.