Langerhans Cell Histiocytosis
Associated Genetic Biomarkers
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) 
Langerhans cell histiocytosiss most frequently harbor alterations in BRAF .
BRAF Mutation, BRAF V600E, BRAF Exon 15 Mutation, and BRAF Codon 600 Missense are the most common alterations in langerhans cell histiocytosis .
There are 5 clinical trials for langerhans cell histiocytosis, of which 4 are open and 1 is completed or closed. Of the trials that contain langerhans cell histiocytosis as an inclusion criterion, 2 are phase 1 (1 open), 1 is phase 2 (1 open), 1 is phase 3 (1 open), and 1 is no phase specified (1 open).
BRAF and FLT3 are the most frequent gene inclusion criteria for langerhans cell histiocytosis clinical trials .
Cobimetinib, donor lymphocytes, and allogeneic hematopoietic stem cell transplantation are the most common interventions in langerhans cell histiocytosis clinical trials.
Significant Genes in Langerhans Cell Histiocytosis
BRAF is altered in 35.0% of langerhans cell histiocytosis patients .
BRAF is an inclusion eligibility criterion in 1 clinical trial for langerhans cell histiocytosis, of which 1 is open and 0 are closed. Of the trial that contains BRAF status and langerhans cell histiocytosis as inclusion criteria, 1 is phase 1 (1 open) .
FLT3 is an inclusion eligibility criterion in 1 clinical trial for langerhans cell histiocytosis, of which 0 are open and 1 is closed. Of the trial that contains FLT3 status and langerhans cell histiocytosis as inclusion criteria, 1 is phase 1 (0 open) .
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 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.