Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report
Carlen A Yuen,
Silin Bao,
Mya Sandi Aung
et al.
Abstract:Erdheim-Chester disease (ECD) is an exceedingly rare non–Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the BRAFV600E mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with mole… Show more
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