Overview

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

ATM +

BRAF +

BRCA1 +

BRCA2 +

FLT3 +

RAD51C +

RAD51D +

Disease Details

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

References

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.