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Recent advances in the understanding of Langerhans cell histiocytosis
Author(s) -
BadalianVery Gayane,
Vergilio JoAnne,
Degar Barbara A.,
RodriguezGalindo Carlos,
Rollins Barrett J.
Publication year - 2012
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2011.08915.x
Subject(s) - langerhans cell histiocytosis , disease , biology , histiocytosis , somatic cell , myeloid , phenotype , lineage (genetic) , immunology , pathology , cancer research , medicine , gene , genetics
Summary Langerhans cell histiocytosis (LCH) is a proliferative disease of cells that share phenotypic characteristics with the primary antigen presenting cells of the epidermis. Its clinical manifestations are highly variable, extending from very benign forms to a disseminated, aggressive disease that causes significant mortality. Although many of the fundamental pathogenetic features of LCH have been enigmatic, recent advances have led to a much clearer understanding of the disease. In particular, careful molecular analyses of mouse models and human LCH samples suggest that LCH’s cell of origin may not be the epidermal LC itself but a myeloid‐derived precursor. Advanced genomic technologies have revealed the presence of activating, somatic BRAF mutations in the majority of patient specimens. Together, these observations have produced a new picture of LCH as a myeloid neoplasm. These advances are likely to have profound implications for the use of targeted therapeutics in LCH.