CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas

Annals of Neurology

Volumn 78, Issue 3, 2015, Pages 355-374

  Gleize, Vincent ^a   Alentorn, Agusti ^a,b   Connen De Kérillis, Léa ^a   Labussière, Marianne ^a   Nadaradjane, Aravidan A ^a   Mundwiller, Emeline ^c   Ottolenghi, Chris ^d   Mangesius, Stephanie ^a   Rahimian, Amithys ^e   Ducray, François ^f   Mokhtari, Karima ^a,e   Villa, Chiara ^e   Sanson, Marc ^a,b,e  

^a SORBONNE UNIVERSITÉ   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f HÔPITAL NEUROLOGIQUE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CCND1 PROTEIN; DUSP4 PROTEIN; ETV1 PROTEIN; ETV4 PROTEIN; ETV5 PROTEIN; PROTEIN; SPRED1 PROTEIN; TEMOZOLOMIDE; UNCLASSIFIED DRUG; CIC PROTEIN, HUMAN; REPRESSOR PROTEIN;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CANCER GROWTH; CANCER PROGNOSIS; CANCER SURVIVAL; CAPICUA TRANSCRIPTIONAL REPRESSOR GENE; CELL PROLIFERATION; CHROMOSOME 1P; CHROMOSOME DELETION; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DNA BINDING MOTIF; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE IDENTIFICATION; GENE INACTIVATION; GENE REPRESSION; GENETIC TRANSFECTION; GLIOMA; GLIOMA CELL LINE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; LENTIVIRINAE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROCYTE PRECURSOR CELL; OVERALL SURVIVAL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REPRESSOR GENE; TRANSCRIPTOMICS; UPREGULATION; ADOLESCENT; BRAIN TUMOR; CHEMISTRY; CHROMOSOME 1; CHROMOSOME 19; GENE DELETION; GENETICS; MUTATION; PATHOLOGY; PROTEIN SECONDARY STRUCTURE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; BRAIN NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENE DELETION; GLIOMA; HUMANS; MALE; MIDDLE AGED; MUTATION; PROTEIN STRUCTURE, SECONDARY; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84939651650     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24443     Document Type: Article

References (42)

1. Louis DN, Ohgaki H, Wiestler OD, et al., The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 2007; 114: 97-109.
2. Erdem-Eraslan L, Gravendeel LA, de Rooi J, et al., Intrinsic molecular subtypes of glioma are prognostic and predict benefit from adjuvant procarbazine, lomustine, and vincristine chemotherapy in combination with other prognostic factors in anaplastic oligodendroglial brain tumors: a report from EORTC study 26951. J Clin Oncol 2013; 31: 328-336.
3. Cairncross JG, Ueki K, Zlatescu MC, et al., Specific genetic predictors of chemotherapeutic response and survival in patients with anaplastic oligodendrogliomas. J Natl Cancer Inst 1998; 90: 1473-1479.
4. Sanson M, Marie Y, Paris S, et al., Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol. 2009; 27: 4150-4154.
5. Yan H, Parsons DW, Jin G, et al., IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 765-773.
6. Labussière M, Idbaih A, Wang XW, et al., All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. Neurology 2010; 74: 1886-1890.
7. Bettegowda C, Agrawal N, Jiao Y, et al., Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science 2011; 333: 1453-1455.
8. Yip S, Butterfield YS, Morozova O, et al., Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers. J Pathol 2012; 226: 7-16.
9. Jiménez G, Shvartsman SY, Paroush Z,. The Capicua repressor-a general sensor of RTK signaling in development and disease. J Cell Sci 2012; 125: 1383-1391.
10. Fryer JD, Yu P, Kang H, et al., Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science 2011; 334: 690-693.
11. Idbaih A, Marie Y, Lucchesi C, et al., BAC array CGH distinguishes mutually exclusive alterations that define clinicogenetic subtypes of gliomas. Int J Cancer 2008; 122: 1778-1786.
12. Gleize V, Boisselier B, Marie Y, et al., The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas. Glia 2012; 60: 1004-1012.
13. Irizarry RA, Hobbs B, Collin F, et al., Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 2003; 4: 249-264.
14. Smyth GK, Michaud J, Scott HS,. Use of within-array replicate spots for assessing differential expression in microarray experiments. Bioinformatics 2005; 21: 2067-2075.
15. Subramanian A, Kuehn H, Gould J, et al., GSEA-P: a desktop application for gene set enrichment analysis. Bioinformatics 2007; 23: 3251-3253.
16. Huang dW, Sherman BT, Lempicki RA,. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009; 4: 44-57.
17. Duran M, Kamerling JP, Bakker HD, et al., L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980; 3: 109-112.
18. Biasini M, Bienert S, Waterhouse A, et al., SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information. Nucleic Acids Res 2014; 42: W252-W258.
19. Russell RB, Barton GJ,. Multiple protein sequence alignment from tertiary structure comparison: assignment of global and residue confidence levels. Proteins 1992; 14: 309-323.
20. Figarella-Branger D, Mokhtari K, Colin C, et al.,; POLA Network. Prognostic relevance of histomolecular classification of diffuse adult high-grade gliomas with necrosis. Brain Pathol 2014 Nov 18. doi: 10.1111/bpa.12227. [Epub ahead of print].
21. Mandonnet E, Delattre JY, Tanguy ML, et al., Continuous growth of mean tumor diameter in a subset of grade II gliomas. Ann Neurol 2003; 53: 524-528.
22. Goze C, Blonski M, Le Maistre G, et al., Imaging growth and isocitrate dehydrogenase 1 mutation are independent predictors for diffuse low-grade gliomas. Neuro Oncol 2014; 16: 1100-1109.
23. Dougherty JD, Fomchenko EI, Akuffo AA, et al., Candidate pathways for promoting differentiation or quiescence of oligodendrocyte progenitor-like cells in glioma. Cancer Res 2012; 72: 4856-4868.
24. Dissanayake K, Toth R, Blakey J, et al., ERK/p90(RSK)/14-3-3 signalling has an impact on expression of PEA3 Ets transcription factors via the transcriptional repressor capicúa. Biochem J 2011; 433: 515-525.
25. Crespo-Barreto J, Fryer JD, Shaw CA, et al., Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet 2010; 6: e1001021.
26. Chittaranjan S, Chan S, Yang C, et al., Mutations in CIC and IDH1 cooperatively regulate 2-hydroxyglutarate levels and cell clonogenicity. Oncotarget 2014; 5: 7960-7979.
27. Cairncross G, Wang M, Shaw E, et al., Phase III trial of chemoradiotherapy for anaplastic oligodendroglioma: long-term results of RTOG 9402. J Clin Oncol 2013; 31: 337-343.
28. Olar A, Wani KM, Alfaro-Munoz KD, et al., IDH mutation status and role of WHO grade and mitotic index in overall survival in grade II-III diffuse gliomas. Acta Neuropathol 2015; 129: 585-596.
29. Chan AK, Pang JC, Chung NY, et al., Loss of CIC and FUBP1 expressions are potential markers of shorter time to recurrence in oligodendroglial tumors. Mod Pathol 2014; 27: 332-342.
30. Jiao Y, Killela PJ, Reitman ZJ, et al., Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas. Oncotarget. 2012; 3: 709-722.
31. Persson AI, Petritsch C, Swartling FJ, et al., Non-stem cell origin for oligodendroglioma. Cancer Cell 2010; 18: 669-682.
32. Sugiarto S, Persson AI, Munoz EG, et al., Asymmetry-defective oligodendrocyte progenitors are glioma precursors. Cancer Cell 2011; 20: 328-340.
33. Johnson BE, Mazor T, Hong C, et al., Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. Science 2014; 343: 189-193.
34. Lee Y, Fryer JD, Kang H, et al., ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell 2011; 21: 746-757.
35. Ortensi B, Osti D, Pellegatta S, et al., Rai is a new regulator of neural progenitor migration and glioblastoma invasion. Stem Cells 2012; 30: 817-832.
36. Keyse SM,. Dual-specificity MAP kinase phosphatases (MKPs) and cancer. Cancer Metastasis Rev 2008; 27: 253-261.
37. Brems H, Pasmant E, Van Minkelen R, et al., Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat 2012; 33: 1538-1546.
38. Li Z, Zhang L, Ma Z, et al., ETV1 induces epithelial to mesenchymal transition in human gastric cancer cells through the upregulation of Snail expression. Oncol Rep 2013; 30: 2859-2863.
39. de Launoit Y, Baert JL, Chotteau-Lelievre A, et al., The Ets transcription factors of the PEA3 group: transcriptional regulators in metastasis. Biochim Biophys Acta 2006; 1766: 79-87.
40. Oh S, Shin S, Janknecht R,. ETV1, 4 and 5: an oncogenic subfamily of ETS transcription factors. Biochim Biophys Acta 2012; 1826: 1-12.
41. Casimiro MC, Velasco-Velazquez M, Aguirre-Alvarado C, Pestell RG,. Overview of cyclins D1 function in cancer and the CDK inhibitor landscape: past and present. Expert Opin Investig Drugs 2014; 23: 295-304.
42. Brunak S, Engelbrecht J, Knudsen S,. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991; 220: 49-65.