MAP2K1: a mutation that responds?

#Histiocytosis #MAPK #MEK #Cobimetinib #Trametinib #Neoplasia


Histiocytoses, such as Erdheim-Chester Disease (ECD) and Rosai-Dorfman Disease (RDD), are rare hematological neoplasms resulting from clonal proliferation of myeloid-derived cells. Long considered inflammatory disorders, they are now reclassified as neoplastic entities due to the discovery of activating mutations in the MAPK/ERK signaling pathway. Among these alterations, MAP2K1 mutations are frequently identified, particularly in patients without BRAF mutations.