Advances in Understanding and Management of Erdheim-Chester Disease.

Kulkarni, Aniruddha Murahar; Gayam, Prasanna Kumar Reddy; Aranjani, Jesil Mathew

Kulkarni, Aniruddha Murahar; Gayam, Prasanna Kumar Reddy; Aranjani, Jesil Mathew.

Afiliación

Kulkarni AM; Department of Pharmaceutical Biotechnology, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Gayam PKR; Department of Pharmaceutical Biotechnology, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Aranjani JM; Department of Pharmaceutical Biotechnology, Manipal College of Pharmaceutical Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, India. Electronic address: jesil.m@manipal.edu.

Life Sci ; 348: 122692, 2024 Jul 01.

Article en En | MEDLINE | ID: mdl-38710283

ABSTRACT

ABSTRACT

Erdheim Chester Disease (ECD) is a rare histiocytic disorder marked by infiltration of organs with CD68+ histiocytes. ECD stems from mutations of BRAF and MAP2K1 in hematopoietic stem and progenitor cells (HSPCs), which further differentiate into monocytes and histiocytes. Histopathology reveals lipid-containing histiocytes, which test positive for CD68 and CD133 in immunohistochemistry. Signs and symptoms vary and depend on the organ/s of manifestation. Definitive radiological results associated with ECD include hairy kidney, coated aorta, and cardiac pseudotumor. Treatment options primarily include anti-cytokine therapy and inhibitors of BRAF and MEK signaling.

Asunto(s)

Enfermedad de Erdheim-Chester; Enfermedad de Erdheim-Chester/tratamiento farmacológico; Enfermedad de Erdheim-Chester/diagnóstico; Enfermedad de Erdheim-Chester/genética; Enfermedad de Erdheim-Chester/terapia; Enfermedad de Erdheim-Chester/patología; Enfermedad de Erdheim-Chester/metabolismo; Humanos; Proteínas Proto-Oncogénicas B-raf/genética; Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores; Histiocitos/patología; Histiocitos/metabolismo

Palabras clave

BRAFV600E; Erdheim-Chester disease; Histiocytosis; MAPK; Trametinib; Vemurafenib

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Erdheim-Chester Límite: Humans Idioma: En Revista: Life Sci Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos

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