KEGG   DISEASE: Langerhans cell histiocytosisHelp
Entry
H01512                      Disease                                

Name
Langerhans cell histiocytosis
Description
Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the skin and mucosa. Its clinical presentation is variable and ranges from isolated skin or bone disease to a life-threatening multisystem condition. Historically, it has been hypothesized that the disease originated from epidermal Langerhans cells. However, new evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. In LCH, there is a very high frequency of activating mutations in MAPK signaling pathway genes, most notably BRAF-V600E, as well as MAP2K1. Genetic, molecular and functional data implicate activation of the MAPK (ERK) signalling pathway at critical stages in myeloid differentiation as an essential and universal driver of LCH pathology.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H01512  Langerhans cell histiocytosis
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Mature T-cell or NK-cell neoplasms
    Mature T-cell or NK-cell lymphoma, primary cutaneous specified types
     2B31  Histiocytic or dendritic cell neoplasms
      H01512  Langerhans cell histiocytosis
BRITE hierarchy
Pathway
hsa04010 MAPK signaling pathway   
Gene
BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
Comment
ICD-O-3: 9752/1 Langerhans cell histiocytosis, unifocal
ICD-O-3: 9753/1 Langerhans cell histiocytosis, multifocal
ICD-O-3: 9754/3 Langerhans cell histiocytosis, disseminated
Other DBs
ICD-11: 2B31.2
ICD-10: C96.0 C96.5 C96.6
MeSH: D006646
Reference
PMID:26414464 (description, gene,marker, tumor type)
  Authors
Harmon CM, Brown N
  Title
Langerhans Cell Histiocytosis: A Clinicopathologic Review and Molecular Pathogenetic Update.
  Journal
Arch Pathol Lab Med 139:1211-4 (2015)
DOI:10.5858/arpa.2015-0199-RA
Reference
PMID:25430560 (description, pathway, gene, marker, drug)
  Authors
Berres ML, Merad M, Allen CE
  Title
Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?
  Journal
Br J Haematol 169:3-13 (2015)
DOI:10.1111/bjh.13247
Reference
PMID:26888790 (pathway, gene, marker)
  Authors
Zinn DJ, Chakraborty R, Allen CE
  Title
Langerhans Cell Histiocytosis: Emerging Insights and Clinical Implications.
  Journal
Oncology (Williston Park) 30:122-32, 139 (2016)
Reference
PMID:25310214 (description, gene, marker, drug)
  Authors
Grana N
  Title
Langerhans cell histiocytosis.
  Journal
Cancer Control 21:328-34 (2014)
DOI:10.1177/107327481402100409
Reference
PMID:25827831 (pathway, gene, drug)
  Authors
Allen CE, Ladisch S, McClain KL
  Title
How I treat Langerhans cell histiocytosis.
  Journal
Blood 126:26-35 (2015)
DOI:10.1182/blood-2014-12-569301
Reference
PMID:22906202 (marker)
  Authors
Badalian-Very G, Vergilio JA, Fleming M, Rollins BJ
  Title
Pathogenesis of Langerhans cell histiocytosis.
  Journal
Annu Rev Pathol 8:1-20 (2013)
DOI:10.1146/annurev-pathol-020712-163959

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