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 |
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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. |
| doi_str_mv | 10.7759/cureus.55670 |
| format | Article |
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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
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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.</description><subject>Cysts</subject><subject>Fractures</subject><subject>Hip joint</subject><subject>Inhalers</subject><subject>Inhibitor drugs</subject><subject>Kinases</subject><subject>Mutation</subject><subject>Patients</subject><subject>Steroids</subject><issn>2168-8184</issn><issn>2168-8184</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNpNkctOwzAQRS0EAgTsWCNLbAn40cQOu9JSQIpUxEMsI8eZUKMkLrazgH_hX3Epr9WMNGfu9fgidEjJqRBpfqYHB4M_TdNMkA20y2gmE0nlaPNfv4MOvH8hhFAiGBFkG-1wmcq4ke2ij9uh7Wyv3Bu-dPUCTJdMFuADODw1HpQH_GTCAl_cjWfJ-Gp8y_Fs8Mb257hQAZJ57yHgeVyw7VswGs-gs061uIAV5fEU_NIEwIXtn5MHcB3-c7wPqjKteVchomufiXVRxa4eYE29j7Ya1Xo4-K576HF2-TC5Tor51c1kXCSaURoSJiRIptKmqRqdZkRKzmrKBMu4rrmAJidyFMdpxSBOdCZ5mouKyJxkWmnB99DxWnfp7OsQzy9f7OD6aFlyMsqFoJyNInWyprSz3jtoyqUzXTykpKRcxVGu4yi_4oj40bfoUHVQ_8I_n88_ARFZiDQ</recordid><startdate>20240306</startdate><enddate>20240306</enddate><creator>Nishino, Koichi</creator><creator>Takagi, Tatsuya</creator><creator>Hayashi, Takuo</creator><creator>Kunimine, Shinya</creator><creator>Tsuchihashi, Hitoshi</creator><creator>Kato, Shunsuke</creator><creator>Takahashi, Kazuhisa</creator><creator>Seyama, Kuniaki</creator><general>Cureus Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope></search><sort><creationdate>20240306</creationdate><title>Pulmonary Erdheim-Chester Disease With BRAF-AGAP3 Fusion: Late-Onset Osteolytic Femoral Lesions Despite Long-Term Pulmonary Stabilization With Corticosteroid</title><author>Nishino, Koichi ; 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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.</abstract><cop>United States</cop><pub>Cureus Inc</pub><pmid>38586706</pmid><doi>10.7759/cureus.55670</doi><oa>free_for_read</oa></addata></record> |
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| source | PubMed Central Open Access; PubMed Central |
| 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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