Fusion genes with ALK as recurrent partner in ependymoma-like gliomas: a new brain tumor entity?

Neuro-oncology
Thale Kristin OlsenPetter Brandal

Abstract

We 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. RNA 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. RNA 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. By combining karyotyping and RNA sequencing, we identified the 2 first ever reported ALK rearrangements in CNS tumors. Such rearr...Continue Reading

References

Feb 1, 1995·Molecular Biology of the Cell·A FüttererM Krönke
Jan 26, 2002·The Journal of Biological Chemistry·Ciaran PowersAnton Wellstein
May 24, 2005·The Journal of Biological Chemistry·Kan V LuPaul S Mischel
Oct 18, 2005·Cancer Cell·Michael D TaylorRichard J Gilbertson
Dec 6, 2006·Journal of Neuropathology and Experimental Neurology·Masahiro MizoguchiCatherine L Nutt
Dec 23, 2006·Annals of the New York Academy of Sciences·Atsushi EnomotoMasahide Takahashi
Mar 16, 2007·Nature Reviews. Cancer·Felix MitelmanFredrik Mertens
May 8, 2007·Critical Reviews in Oncology/hematology·Michele ReniCharles Vecht
Jul 10, 2007·Acta Neuropathologica·David N LouisPaul Kleihues
Dec 22, 2007·Nature Reviews. Cancer·Roberto ChiarleGiorgio Inghirami
Nov 14, 2008·Pediatric Blood & Cancer·Courtney S McGuirePaul Graham Fisher
Jan 13, 2009·Nature·Christopher A MaherArul M Chinnaiyan
Jun 18, 2009·Molecular Cancer Research : MCR·John-Paul KildayRichard Grundy
Apr 29, 2010·Current Neurology and Neuroscience Reports·Mark R GilbertRiccardo Soffietti
Jun 3, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Andrey KorshunovStefan Pfister
Oct 29, 2010·The New England Journal of Medicine·James E ButrynskiGeoffrey I Shapiro
Oct 29, 2010·Genome Biology·Simon Anders, Wolfgang Huber
Feb 25, 2011·The New England Journal of Medicine·Carlo Gambacorti-PasseriniEnrico M Pogliani
Mar 23, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Daniel B CostaKeith D Wilner
Sep 3, 2011·Science Translational Medicine·Munir R TanasBrian P Rubin
Jan 10, 2012·Proceedings of the National Academy of Sciences of the United States of America·Cheng-Han LeeJonathan A Fletcher
Jan 10, 2012·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Emanuele CrocettiUNKNOWN RARECARE working group
Apr 25, 2012·Acta Neuropathologica·Catherine GodfraindDavid W Ellison
Jul 17, 2012·Current Treatment Options in Oncology·Karen D Wright, Amar Gajjar
Aug 2, 2012·Journal of Signal Transduction·Joel D PearsonRobert J Ingham
Dec 4, 2012·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Robert Roskoski
Apr 13, 2013·Genes, Chromosomes & Cancer·Ioannis PanagopoulosFrancesca Micci
Oct 18, 2013·Nature Reviews. Cancer·Alice T ShawJeffrey A Engelman
Feb 21, 2014·Nature·Matthew ParkerRichard J Gilbertson
Jun 19, 2014·Oncology Reports·Thale Kristin OlsenPetter Brandal
Oct 25, 2014·Nature Reviews. Cancer·Hua YuRichard Jove
Dec 4, 2014·Journal of Neuroimmunology·Ling-Yuan KongAmy B Heimberger
Dec 4, 2014·The New England Journal of Medicine·Benjamin J SolomonUNKNOWN PROFILE 1014 Investigators

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Citations

Oct 18, 2015·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Benedict YanKenneth T E Chang
Jul 13, 2016·Genes, Chromosomes & Cancer·Thale Kristin OlsenPetter Brandal
Oct 28, 2016·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Ioannis PanagopoulosSverre Heim
Sep 24, 2016·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Alvaro LassalettaUri Tabori
Sep 11, 2019·Pediatric Blood & Cancer·Takao TsurubuchiAkira Matsumura
Dec 26, 2019·Journal of Neuro-oncology·Ahmed GilaniAdam L Green
Oct 29, 2017·The Oncologist·Jeffrey S RossLaurie M Gay
Apr 1, 2019·Brain Tumor Pathology·Kensuke TateishiTetsuya Yamamoto
Sep 27, 2019·Nature Communications·Ana S Guerreiro StucklinCynthia Hawkins
Jan 12, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Graziella Ribeiro de SousaElvis Terci Valera
Sep 27, 2019·Pediatric Blood & Cancer·Elvis T ValeraLuiz Gonzaga Tone
Oct 24, 2018·Brain Tumor Pathology·Yoshiko NakanoKoichi Ichimura
Mar 14, 2020·Acta Neuropathologica Communications·Scott RyallCynthia Hawkins
Nov 26, 2020·Virchows Archiv : an International Journal of Pathology·Hanna MajewskaWojciech Biernat
Mar 7, 2021·Cancers·Yusuke FunakoshiMasahiro Mizoguchi
Mar 31, 2021·Neurosurgery Clinics of North America·Sophie M PeetersAnthony C Wang
Apr 23, 2021·Pathology, Research and Practice·Enrico FranceschiAlba Ariela Brandes

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