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

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 corticos...

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Veröffentlicht in:Curēus (Palo Alto, CA) CA), 2024-03, Vol.16 (3), p.e55670
Hauptverfasser: Nishino, Koichi, Takagi, Tatsuya, Hayashi, Takuo, Kunimine, Shinya, Tsuchihashi, Hitoshi, Kato, Shunsuke, Takahashi, Kazuhisa, Seyama, Kuniaki
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container_title Curēus (Palo Alto, CA)
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creator Nishino, Koichi
Takagi, Tatsuya
Hayashi, Takuo
Kunimine, Shinya
Tsuchihashi, Hitoshi
Kato, Shunsuke
Takahashi, Kazuhisa
Seyama, Kuniaki
description 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 mutation was negative in the lung specimen at diagnosis, the next-generation gene sequence using biopsied bone lesions revealed a rare fusion, leading to the administration of trametinib. This is the first report describing ECD harboring 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.
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subjects Cysts
Fractures
Hip joint
Inhalers
Inhibitor drugs
Kinases
Mutation
Patients
Steroids
title Pulmonary Erdheim-Chester Disease With BRAF-AGAP3 Fusion: Late-Onset Osteolytic Femoral Lesions Despite Long-Term Pulmonary Stabilization With Corticosteroid
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