info:eu-repo/semantics/article
High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis
Fecha
2021-07Registro en:
Carrere, Xiomara; Pinto, Nicolás Alejandro; Gene Olaciregui, Nagore; Galluzzo, Laura; Rossetti, Estefania; et al.; High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis; Wiley-liss, div John Wiley & Sons Inc.; Pediatric Blood & Cancer; 68; 7; 7-2021; 1-6
1545-5009
CONICET Digital
CONICET
Autor
Carrere, Xiomara
Pinto, Nicolás Alejandro
Gene Olaciregui, Nagore
Galluzzo, Laura
Rossetti, Estefania
Celis Passini, Veronica
Salvador Marcos, Noelia
Chantada, Guillermo Luis
Braier, Jorge
Lavarino, Cinzia
Felizzia, Guido
Resumen
Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAFV600E mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAFV600E mutation was detected either in the diagnosis (skin and bone) or liver biopsy in our cohort of 13 patients. Thus, we observed a high incidence of BRAFV600E mutation in 100% either in diagnostic biopsy (skin and bone) or liver biopsy in patients with progressive liver disease, sequela, or liver transplant requirement.