High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis
Xiomara Carrere
Pathology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCorresponding Author
Nicolas Pinto
Precision Medicine Coordination, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Correspondence
Nicolás Pinto, Precision Medicine Coordination, Hospital de Pediatría SAMIC Prof Dr Juan P Garrahan, Combate de los Pozos 1881 (1245), Buenos Aires, Argentina.
Email: [email protected]
Search for more papers by this authorNagore Gene Olaciregui
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorLaura Galluzzo
Pathology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorEstefania Rossetti
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorVeronica Celis Passini
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorNoelia Salvador Marcos
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorGuillermo Chantada
Precision Medicine Coordination, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorJorge Braier
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCinzia Lavarino
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorGuido Felizzia
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorXiomara Carrere
Pathology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCorresponding Author
Nicolas Pinto
Precision Medicine Coordination, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Correspondence
Nicolás Pinto, Precision Medicine Coordination, Hospital de Pediatría SAMIC Prof Dr Juan P Garrahan, Combate de los Pozos 1881 (1245), Buenos Aires, Argentina.
Email: [email protected]
Search for more papers by this authorNagore Gene Olaciregui
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorLaura Galluzzo
Pathology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorEstefania Rossetti
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorVeronica Celis Passini
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorNoelia Salvador Marcos
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorGuillermo Chantada
Precision Medicine Coordination, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorJorge Braier
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCinzia Lavarino
Oncology Department, Hospital Sant Joan de Déu, Barcelona, Spain
Search for more papers by this authorGuido Felizzia
Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCarrere Xiomara and Pinto Nicolas contributed equally to the development of this work.
The abstract of this research has been submitted to the virtual 36th Annual Meeting of the Histiocyte Society (October and November 2020) titled “High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis, or liver fibrosis secondary to Langerhans cell histiocytosis” and was published in the Pediatric Blood & Cancer journal, and the manuscript has been previously submitted to this journal as a Research Article.
Abstract
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.
CONFLICT OF INTEREST
The authors declare that there is no conflict of interest.
Supporting Information
| Filename | Description |
|---|---|
| pbc29115-sup-0001-TableS1.docx28.8 KB | Supporting Table S1 Clinical manifestations, treatments and outcomes of patients |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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