Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

Acta Neuropathologica

Volumn 124, Issue 5, 2012, Pages 615-625

  Liu, Xiao Yang ^a   Gerges, Noha ^a   Korshunov, Andrey ^b   Sabha, Nesrin ^c   Khuong Quang, Dong Anh ^a   Fontebasso, Adam M ^a   Fleming, Adam ^d   Hadjadj, Djihad ^a   Schwartzentruber, Jeremy ^a   Majewski, Jacek ^a   Dong, Zhifeng ^e   Siegel, Peter ^e   Albrecht, Steffen ^d   Croul, Sidney ^f   Jones, David T W ^b   Kool, Marcel ^b   Tonjes, Martje ^b   Reifenberger, Guido ^g   Faury, Damien ^a   Zadeh, Gelareh ^c   Pfister, Stefan ^b,h   Jabado, Nada ^a,d   more..

^a MCGILL UNIVERSITY   (Canada)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c TORONTO WESTERN HOSPITAL   (Canada)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g HEINRICH HEINE UNIVERSITY   (Germany)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Alternative lengthening of telomeres; ATRX; Gliomas; IDH; TP53

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; TUMOR SUPPRESSOR PROTEIN;

ADULT; AGE; ARTICLE; ASTROCYTOMA; ATRX GENE; CANCER GRADING; CARCINOGENESIS; CHILD; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; GLIOBLASTOMA; H3F3A GENE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IDH1 GENE; IDH2 GENE; IMMUNOHISTOCHEMISTRY; INDEL MUTATION; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PILOCYTIC ASTROCYTOMA; PRIORITY JOURNAL; TELOMERE HOMEOSTASIS; TUMOR SUPPRESSOR GENE;

ADULT; AGED; ASTROCYTOMA; BRAIN NEOPLASMS; DNA HELICASES; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; ISOCITRATE DEHYDROGENASE; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; NUCLEAR PROTEINS; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEIN P53; YOUNG ADULT;

EID: 84871020024     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1031-3     Document Type: Article

References (33)

1. Bassett AR, Cooper SE, Ragab A, Travers AA (2008) The chromatin remodelling factor dATRX is involved in heterochromatin formation. PLoS One 3(5):e2009
2. Baumann C, Viveiros MM, De La Fuente R (2010) Loss of maternal ATRX results in centromere instability and aneuploidy in the mammalian oocyte and pre-implantation embryo. PLoS Genet 6(9). pii:e1001137
3. Bettegowda C, Agrawal N, Jiao Y, Sausen M, Wood LD, Hruban RH, Rodriguez FJ, Cahill DP, McLendon R, Riggins G, Velculescu VE, Oba-Shinjo SM, Marie SK, Vogelstein B, Bigner D, Yan H, Papadopoulos N, Kinzler KW (2011) Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science 333(6048):1453-1455
4. Bourne TD, Schiff D (2010) Update on molecular findings, management and outcome in low-grade gliomas. Nat Rev Neurol 6(12):695-701
5. Capper D, Weissert S, Balss J, Habel A, Meyer J, Jager D, Ackermann U, Tessmer C, Korshunov A, Zentgraf H, Hartmann C, von Deimling A (2010) Characterization of R132H mutationspecific IDH1 antibody binding in brain tumors. Brain Pathol 20(1):245-254
6. Cheung NK, Zhang J, Lu C, Parker M, Bahrami A, Tickoo SK, Heguy A, Pappo AS, Federico S, Dalton J, Cheung IY, Ding L, Fulton R, Wang J, Chen X, Becksfort J, Wu J, Billups CA, Ellison D, Mardis ER, Wilson RK, Downing JR, Dyer MA (2012) Association of age at diagnosis and genetic mutations in patients with neuroblastoma. JAMA 307(10):1062-1071
7. Cancer Genome Atlas Research Network (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455(7216):1061-1068
8. Elsasser SJ, Allis CD, Lewis PW (2011) Cancer. New epigenetic drivers of cancers. Science 331(6021):1145-1146
9. Emelyanov AV, Konev AY, Vershilova E, Fyodorov DV (2010) Protein complex of drosophila ATRX/XNP and HP1a is required for the formation of pericentric beta-heterochromatin in vivo. J Biol Chem 285(20):15027-15037
10. Faury D, Nantel A, Dunn SE, Guiot MC, Haque T, Hauser P, Garami M, Bognar L, Hanzely Z, Liberski PP, Lopez-Aguilar E, Valera ET, Tone LG, Carret AS, Del Maestro RF, Gleave M, Montes JL, Pietsch T, Albrecht S, Jabado N (2007) Molecular profiling identifies prognostic subgroups of pediatric glioblastoma and shows increased YB-1 expression in tumors. J Clin Oncol 25(10):1196-1208
11. Gibbons R (2006) Alpha thalassaemia-mental retardation, X linked. Orphanet J Rare Dis 1:15
12. Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR (2003) Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet 34(4):446-449
13. Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80(6):837-845
14. Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J (2008) Mutations in the chromatin-associated protein ATRX. Hum Mutat 29(6):796-802
15. Gravendeel LA, Kouwenhoven MC, Gevaert O, de Rooi JJ, Stubbs AP, Duijm JE, Daemen A, Bleeker FE, Bralten LB, Kloosterhof NK, De Moor B, Eilers PH, van der Spek PJ, Kros JM, Sillevis Smitt PA, van den Bent MJ, French PJ (2009) Intrinsic gene expression profiles of gliomas are a better predictor of survival than histology. Cancer Res 69(23):9065-9072
16. Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, Bettegowda C, Rodriguez FJ, Eberhart CG, Hebbar S, Offerhaus GJ, McLendon R, Rasheed BA, He Y, Yan H, Bigner DD, Oba- Shinjo SM, Marie SK, Riggins GJ, Kinzler KW, Vogelstein B, Hruban RH, Maitra A, Papadopoulos N, Meeker AK (2011) Altered telomeres in tumors with ATRX and DAXX mutations. Science 333(6041):425
17. Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, Schulick RD, Tang LH, Wolfgang CL, Choti MA, Velculescu VE, Diaz LA Jr, Vogelstein B, Kinzler KW, Hruban RH, Papadopoulos N (2011) DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 331(6021):1199-1203
18. Jones DT, Gronych J, Lichter P, Witt O, Pfister SM (2011) MAPK pathway activation in pilocytic astrocytoma. Cell Mol Life Sci 69(11):1799-1811
19. Khuong-Quang DA, Buczkowicz P, Rakopoulos P, Liu XY, Fontebasso AM, Bouffet E, Bartels U, Albrecht S, Schwartzentruber J, Letourneau L, Bourgey M, Bourque G, Montpetit A, Bourret G, Lepage P, Fleming A, Lichter P, Kool M, von Deimling A, Sturm D, Korshunov A, Faury D, Jones DT, Majewski J, Pfister SM, Jabado N, Hawkins C (2012) K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta neuropathol [Epub ahead of print]
20. Kieran MW, Walker D, Frappaz D, Prados M (2010) Brain tumors: from childhood through adolescence into adulthood. J Clin Oncol 28(32):4783-4789
21. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P (2007) The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 114(2):97-109
22. Molenaar JJ, Koster J, Zwijnenburg DA, van Sluis P, Valentijn LJ, van der Ploeg I, Hamdi M, van Nes J, Westerman BA, van Arkel J, Ebus ME, Haneveld F, Lakeman A, Schild L, Molenaar P, Stroeken P, van Noesel MM, Ora I, Santo EE, Caron HN, Westerhout EM, Versteeg R (2012) Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 483(7391):589-593
23. Ohgaki H, Kleihues P (2011) Genetic profile of astrocytic and oligodendroglial gliomas. Brain Tumor Pathol 28(3):177-183
24. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321(5897):1807-1812
25. Paugh BS, Qu C, Jones C, Liu Z, Adamowicz-Brice M, Zhang J, Bax DA, Coyle B, Barrow J, Hargrave D, Lowe J, Gajjar A, Zhao W, Broniscer A, Ellison DW, Grundy RG, Baker SJ (2010) Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease. J Clin Oncol 28(18):3061-3068
26. Pollack IF, Hamilton RL, Sobol RW, Nikiforova MN, Lyons- Weiler MA, Laframboise WA, Burger PC, Brat DJ, Rosenblum MK, Holmes EJ, Zhou T, Jakacki RI (2010) IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group. Childs Nerv Syst 27(1): 87-94
27. Qu HQ, Jacob K, Fatet S, Ge B, Barnett D, Delattre O, Faury D, Montpetit A, Solomon L, Hauser P, Garami M, Bognar L, Hansely Z, Mio R, Farmer JP, Albrecht S, Polychronakos C, Hawkins C, Jabado N (2010) Genome-wide profiling using singlenucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas. Neuro Oncol 12(2):153-163
28. Schneiderman JI, Sakai A, Goldstein S, Ahmad K (2009) The XNP remodeler targets dynamic chromatin in Drosophila. Proc Natl Acad Sci USA 106(34):14472-14477
29. Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tonjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jager N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Fruhwald MC, Roggendorf W, Kramm C, Durken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N (2012) Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 482(7384):226-231
30. Tabori U, Baskin B, Shago M, Alon N, Taylor MD, Ray PN, Bouffet E, Malkin D, Hawkins C (2010) Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. J Clin Oncol 28(8):1345-1350
31. Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, Wilkerson MD, Miller CR, Ding L, Golub T, Mesirov JP, Alexe G, Lawrence M, O'Kelly M, Tamayo P, Weir BA, Gabriel S, Winckler W, Gupta S, Jakkula L, Feiler HS, Hodgson JG, James CD, Sarkaria JN, Brennan C, Kahn A, Spellman PT, Wilson RK, Speed TP, Gray JW, Meyerson M, Getz G, Perou CM, Hayes DN (2010) Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell 17(1):98-110
32. Wu G, Broniscer A, McEachron TA, Lu C, Paugh BS, Becksfort J, Qu C, Ding L, Huether R, Parker M, Zhang J, Gajjar A, Dyer MA, Mullighan CG, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Ellison DW, Baker SJ (2012) Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and nonbrainstem glioblastomas. Nat Genet 44(3):251-253
33. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360(8):765-773