ArticleInternational journal of hematology2020
Analysis of the BRAF and MAP2K1 mutations in patients with Langerhans cell histiocytosis in Japan.
Article in International journal of hematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Langerhans cell histiocytosis manifesting at birth: a neonatal case with BRAF V600E mutation.Diagnostic pathology · 2025Article
- Beyond BRAFCancer medicine · 2024Article
- Single-system Langerhans Cell Histiocytosis with Skin Ulcers as the Initial Presentation.Acta dermato-venereologica · 2024Article
- Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.Blood advances · 2023Article
- Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.Journal of cancer research and clinical oncology · 2022Article
- A Risk Model Composed of Complete Blood Count,Frontiers in oncology · 2022Article
- Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing.Orphanet journal of rare diseases · 2021Article
- Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
In Langerhans cell histiocytosis (LCH), somatic gene mutations in the mitogen-activated protein kinase pathway have been identified in more than 80% of cases in Western countries, in which mutually exclusive BRAF and MAP2K1 mutations are involved. Among them, BRAF V600E mutation is the major contributor (50-60%). In 59 patients (50 children and nine adults) with LCH (not including pulmonary LCH) in Japan, we first screened for BRAF V600E in all patients followed by target sequencing for other gene mutations in 17 of BRAF V600E-negative patients. As a result, BRAF V600E mutation was detected in 27/59 (46%) patients. We also identified BRAF mutations other than V600E in five and MAP2K1 mutations in nine patients. Thus, gene mutations in BRAF or MAP2K1 were identified in 41/44 (93%) of the fully tested patients. Regarding the correlation of clinical features and genotype in pediatric patients, we found that BRAF V600E mutation status was not correlated with sex, age at diagnosis, disease extent, response to first-line therapy, relapse, or CNS-related sequelae. Interestingly, MAP2K1 exon 2 in-frame deletion was related to the risk organ involvement; however, further studies are required to clarify the impact of these gene mutations on the clinical features of patients with LCH.
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