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High prevalence of BRAF V600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis
Author(s) -
Carrere Xiomara,
Pinto Nicolas,
Gene Olaciregui Nagore,
Galluzzo Laura,
Rossetti Estefania,
Celis Passini Veronica,
Salvador Marcos Noelia,
Chantada Guillermo,
Braier Jorge,
Lavarino Cinzia,
Felizzia Guido
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29115
Subject(s) - medicine , langerhans cell histiocytosis , liver biopsy , cholestasis , biopsy , gastroenterology , primary sclerosing cholangitis , histiocytosis , chemotherapy , incidence (geometry) , pathology , disease , physics , optics
Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAF V600E mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAF V600E 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 BRAF V600E mutation in 100% either in diagnostic biopsy (skin and bone) or liver biopsy in patients with progressive liver disease, sequela, or liver transplant requirement.