2019/10/02 by Anna Raciborska, Raciborska, Anna, Zofia Małas +3
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Hedgehog Signaling Pathway Studies #Histiocytic Disorders and Treatments #Phagocytosis and Immune Regulation #Tuberous Sclerosis Complex Research
paper · doi:10.34763/devperiodmed.20182204.376378
openalex publication_date 2020/12/27 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/01
Langerhans Cell Histiocytosis (LCH) is a rare disease involving the occurrence of disturbances in the mitogene-activated kinases pathway (MAPK). At present, it is known that the appearance of such disorders is usually connected with a more aggressive form of the disease, more frequently resistant to conventional chemotherapy, as well as characterised by a higher probability of relapse and progression. Since recently, it has been possible to apply BRAF inhibitors in the treatment of LCH patients, however, there are no clear guidelines regarding the criteria for implementing this type of therapy. There are very little literature data as to the safety of using such formulations among juvenile patients. In this paper we present a girl with severe Langerhans Cell Histiocytosis, not responding to conventional treatment, who only after adding vemurafenib achieved a regression of symptoms. This case shows the necessity to expand the diagnostics with molecular tests and the possibility of applying targeted treatment for patients of this kind. Keywords: Langerhans histiocytosis, BRAF inhibitors, vemurafenib