NCI Definition: A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) [1]

Langerhans cell histiocytosiss most frequently harbor alterations in BRAF, MAP2K1, TET2, NOTCH3, and STAG2 [2].

Most Commonly Altered Genes in Langerhans Cell Histiocytosis

BRAF Mutation, BRAF Exon 15 Mutation, BRAF Codon 600 Missense, BRAF V600E, and MAP2K1 Mutation are the most common alterations in langerhans cell histiocytosis [2].

Top Alterations in Langerhans Cell Histiocytosis

Significant Genes in Langerhans Cell Histiocytosis





FLT3 +

RAD51C +

RAD51D +

Disease Details

Histiocytosis X, LCH, Soft tissue histiocytosis Langerhans, Langerhans Cell Granulomatosis
Histiocytic and Dendritic Cell Neoplasm
Letterer-Siwe Disease, Hand-Schuller-Christian Disease, and Langerhans Cell Histiocytosis, Monostotic
OncoTree Name
Langerhans Cell Histiocytosis
OncoTree Code


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.