ArticleNeuro-oncology2015
Fusion genes with ALK as recurrent partner in ependymoma-like gliomas: a new brain tumor entity?
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Article in Neuro-oncology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 51 citations in OpenAlex.
- Three decades of anaplastic lymphoma kinase: from physiological roles to cancer and immune evasion.Cancer metastasis reviews · 2026Review
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- A congenital infant-type hemispheric glioma case with EML4::ALK fusion.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Morphological and Molecular Characterization of Infant-Type Hemispheric Glioma.Neurosciences (Riyadh, Saudi Arabia) · 2026Article
- Cortically Based Brain Tumors in Children: A Decision-Tree Approach in the Radiology Reading Room.AJNR. American journal of neuroradiology · 2025Review
- Molecular and Pathological Features of Paediatric High-Grade Gliomas.International journal of molecular sciences · 2024Review
- High-grade glioma in infants and young children is histologically, molecularly, and clinically diverse: Results from the SJYC07 trial and institutional experience.Neuro-oncology · 2024Article
- Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?Frontiers in molecular neuroscience · 2024Review
- A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant-type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma.Brain pathology (Zurich, Switzerland) · 2023Article
- ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Newly Recognized CNS Tumors in the 2021 World Health Organization Classification: Imaging Overview with Histopathologic and Genetic Correlation.AJNR. American journal of neuroradiology · 2023Review
- Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system.Pediatric radiology · 2023Review
- Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario.Pharmaceutics · 2023Review
- Unlocking the power of precision medicine for pediatric low-grade gliomas: molecular characterization for targeted therapies with enhanced safety and efficacy.Frontiers in oncology · 2023Review
- Review
- 2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.Neuroradiology · 2022Review
- ALK fusion promotes metabolic reprogramming of cancer cells by transcriptionally upregulating PFKFB3.Oncogene · 2022Article
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- DNA methylation profiling as a model for discovery and precision diagnostics in neuro-oncology.Neuro-oncology · 2021Review
- Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.Cancers · 2021Review
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Authors and funding
13 authors at 3 institutions in 2 countries.
Thale Kristin OlsenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Ioannis PanagopoulosSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Torstein R MelingSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Francesca MicciSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Ludmila GorunovaSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Jim ThorsenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Bernt Due-TønnessenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
David ScheieSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Marius Lund-IversenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Bård KrossnesSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Cathrine SaxhaugSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Sverre HeimSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Petter BrandalSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., I.P., F.M., L.G., J.T., S.H., P.B.); Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (T.K.O., S.H.); Department of Neurosurgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway (T.R.M., B.D.-T.); Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway (M.L.-I., B.K.); Department of Radiology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (C.S.); Department of Pathology, Rigshospitalet, Copenhagen, Denmark (D.S.); Department of Oncology, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway (P.B.).
Oslo University Hospital · NONorwegian Cancer Society · NOUniversity of Oslo · NO
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe have previously characterized 19 ependymal tumors using Giemsa banding and high-resolution comparative genomic hybridization. The aim of this study was to analyze these tumors searching for fusion genes.
methodsRNA sequencing was performed in 12 samples. Potential fusion transcripts were assessed by seed count and structural chromosomal aberrations. Transcripts of interest were validated using fluorescence in situ hybridization and PCR followed by direct sequencing.
resultsRNA sequencing identified rearrangements of the anaplastic lymphoma kinase gene (ALK) in 2 samples. Both tumors harbored structural aberrations involving the ALK locus 2p23. Tumor 1 had an unbalanced t(2;14)(p23;q22) translocation which led to the fusion gene KTN1-ALK. Tumor 2 had an interstitial del(2)(p16p23) deletion causing the fusion of CCDC88A and ALK. In both samples, the breakpoint of ALK was located between exons 19 and 20. Both patients were infants and both tumors were supratentorial. The tumors were well demarcated from surrounding tissue and had both ependymal and astrocytic features but were diagnosed and treated as ependymomas.
conclusionsBy combining karyotyping and RNA sequencing, we identified the 2 first ever reported ALK rearrangements in CNS tumors. Such rearrangements may represent the hallmark of a new entity of pediatric glioma characterized by both ependymal and astrocytic features. Our findings are of particular importance because crizotinib, a selective ALK inhibitor, has demonstrated effect in patients with lung cancer harboring ALK rearrangements. Thus, ALK emerges as an interesting therapeutic target in patients with ependymal tumors carrying ALK fusions.
Indexed as
AdultAgedAnaplastic Lymphoma KinaseBrain NeoplasmsChromosome AberrationsComparative Genomic HybridizationEpendymomaFemaleHumansInfantKaryotypingMaleMembrane ProteinsMicrofilament ProteinsMiddle AgedOncogene Proteins, FusionALK protein, humanAnaplastic Lymphoma KinaseCCDC88A protein, humanKTN1 protein, humanMembrane ProteinsMicrofilament ProteinsOncogene Proteins, FusionReceptor Protein-Tyrosine KinasesVesicular Transport Proteinsanaplastic lymphoma kinasechromosomal aberrationsependymomafusion genesRNA sequencing
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