Pediatric Histiocytic and dendritic cell neoplasms
2023-06-25 Sheng Xiao, MD , Chunxiao Yang Affiliation1.Brigham and Women's Hospital, Harvard Medical School, Boston, MA (USA)
Classification
Definition
Pediatric histiocytic and dendritic cell neoplasms often show the activation of the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK) signaling pathway, with BRAF p.V600E mutation being the dominant driver mutation. 1 Targeted therapies with BRAF p.V600E inhibitors, such as vemurafenib and dabrafenib, have demonstrated efficacy in treating these patients.2
| Histiocytic and dendritic cell neoplasms | Genetic marker(s) |
|---|---|
| Langerhans cell histiocytosis and related disorders | BRAF p.V600E is seen in 40-70% of LCH, with the rearrangement of ALK or NTRK or mutations of MAP2K1, CSF1R or PIK3CA reported.3 BRAF p.V600E is associated more aggressive course and increased risk of relapse.4 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 31806714 | 2020 | Genetic landscape of adult Langerhans cell histiocytosis with lung involvement. | Jouenne F et al |
| 2 | 23258922 | 2013 | Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. | Haroche J et al |
| 3 | 31768065 | 2019 | Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. | Durham BH et al |
| 4 | 31685033 | 2019 | BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. | Picarsic J et al |
Citation
Sheng Xiao, MD ; Chunxiao Yang
Pediatric Histiocytic and dendritic cell neoplasms
Atlas Genet Cytogenet Oncol Haematol. 2023-06-25
Online version: http://atlasgeneticsoncology.org/solid-tumor/209184/pediatric-histiocytic-and-dendritic-cell-neoplasms
