ArticleInternational journal of cancer2019
A novel fusion gene PLEKHA6-NTRK3 in langerhans cell histiocytosis.
Article in International journal of cancer, 2019. 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, 17 citations in OpenAlex.
- Class 3 MAP2K1 mutations associate with relapse and multiple treatment lines in multisystem Langerhans cell histiocytosis.Blood advances · 2026Article
- Isolated Esophageal Langerhans Cell Histiocytosis in an Adult: A Case Report.Clinical case reports · 2026Article
- NTRK1-rearranged histiocytosis: clinicopathologic and molecular features.Blood advances · 2025Article
- Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.Journal of cancer research and clinical oncology · 2022Article
- Article
- MAP-Kinase-Driven Hematopoietic Neoplasms: A Decade of Progress in the Molecular Age.Cold Spring Harbor perspectives in medicine · 2021Review
- ALK-rearranged renal cell carcinoma with a novel PLEKHA7-ALK translocation and metanephric adenoma-like morphology.Virchows Archiv : an international journal of pathology · 2020Article
- The coming of age of Langerhans cell histiocytosis.Nature immunology · 2020Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Langerhans cell histiocytosis (LCH) is the most common histiocytosis with constitutive activation of the RAS-RAF-MEK-ERK (MAPKinase) cell signaling pathway. We analyzed 89 cases of BRAF and MAP2K1 mutations by Sanger sequencing, of which 18 cases showed that these two gene mutations are negative. Whole genome sequencing of suitable specimens in these negative cases revealed a translocation from the 3 intron of PLEKHA6 to the 13 intron of NTRK3 in one case. We identified that this translocation could cause a novel fusion mutation, PLEKHA6-NTRK3. Overexpression of the PLEKHA6-NTRK3 mutant in NIH 3T3 cells enhanced MAPKinase pathway activation, promote cell growth. Our result suggested that a new mutation need be included in LCH molecular screening panel to better define its prevalence in LCH.
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