ArticlePediatric research2019
Longitudinal assessment of peripheral blood BRAFV600E levels in patients with Langerhans cell histiocytosis.
Article in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Histiocytosis development and clinical variation through the lens of genomics.The Journal of pathology · 2026Review
- A Case of Primary Cutaneous BRAFThe Australasian journal of dermatology · 2026Article
- Long-term MAPK inhibition of childhood refractory-Langerhans cell histiocytosis: an observational study of 288 patients.Blood advances · 2026Observational
- Histiocyte Society blueprint for Langerhans cell histiocytosis research: from cell-of-origin to a more comprehensive cure.Haematologica · 2025Review
- Disease response criteria in Langerhans cell histiocytosis: a global view.International journal of hematology · 2025Review
- Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads.Blood · 2025Article
- Real-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium.Blood neoplasia · 2024Article
- Current State of Targeted Therapy in Adult Langerhans Cell Histiocytosis and Erdheim-Chester Disease.Targeted oncology · 2024Review
- Etoposide Therapy of Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024Review
- Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis-associated neurodegenerative disease using droplet digital PCR analysis.International journal of hematology · 2023Article
- Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis.Blood advances · 2023Article
- Optimal timing of liver transplantation for liver cirrhosis caused by sclerosing cholangitis in a patient with Langerhans cell histiocytosis: a case report.International journal of hematology · 2023Article
- Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.Blood advances · 2023Article
- Article
- Cellular distribution of mutations and association with disease risk in Langerhans cell histiocytosis without BRAFV600E.Blood advances · 2022Article
- Histiocytosis.Lancet (London, England) · 2021Review
- The coming of age of Langerhans cell histiocytosis.Nature immunology · 2020Article
- Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2019Observational
- Association between clinicopathologic characteristics and BRAFThoracic cancer · 2019Article
- Epigenomics and Single-Cell Sequencing Define a Developmental Hierarchy in Langerhans Cell Histiocytosis.Cancer discovery · 2019Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLangerhans cell histiocytosis (LCH) is a histiocytic disorder driven by a constitutive activation of the MAPK signaling pathway in myeloid cells. In 50-60% of cases, it is caused by the BRAFV600E mutation. There is evidence that levels of BRAFV600E in the peripheral blood of patients with LCH correlate with disease burden and could be used as marker for disease extent and response to therapy. However, there is currently no consensus on how testing for minimal disseminated disease should be performed.
methodsDifferent approaches to determine the mutation load in patients with LCH were assessed and longitudinal evaluation of patient DNA during treatment with chemotherapy and/or the RAF inhibitor vemurafenib was performed. DNA was isolated from whole blood, different leukocyte subsets, and circulating cell-free DNA (ccf-DNA).
resultsWe show that determining BRAF levels from whole blood is superior to using ccfDNA. Furthermore, it is important to identify the clinically relevant BRAF-mutated cellular subpopulations such as CD14
conclusionOur data support the view that single-agent treatment with an RAF inhibitor reduces disease activity but does not cure LCH.
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