K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

Acta Neuropathologica

Volumn 124, Issue 3, 2012, Pages 439-447

  Khuong Quang, Dong Anh ^a   Buczkowicz, Pawel ^b,c   Rakopoulos, Patricia ^b,c   Liu, Xiao Yang ^a   Fontebasso, Adam M ^a   Bouffet, Eric ^b   Bartels, Ute ^b   Albrecht, Steffen ^d   Schwartzentruber, Jeremy ^a   Letourneau, Louis ^a   Bourgey, Mathieu ^a   Bourque, Guillaume ^a   Montpetit, Alexandre ^a   Bourret, Genevieve ^a   Lepage, Pierre ^a   Fleming, Adam ^d   Lichter, Peter ^e   Kool, Marcel ^e   Von Deimling, Andreas ^e   Sturm, Dominik ^e   Korshunov, Andrey ^e   Faury, Damien ^d   Jones, David T ^e   Majewski, Jacek ^a   Pfister, Stefan M ^e,f   Jabado, Nada ^a,d   Hawkins, Cynthia ^b,c   more..

^a MCGILL UNIVERSITY   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

ATRX; DIPG; H3.3; Survival; Targeted therapy; TP53

Indexed keywords

ARGININE; GLYCINE; HISTONE H3; HISTONE H3.3; METHIONINE; PROTEIN P53; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ALPHA THALASSEMIA; ARTICLE; ATRX GENE; BRAIN CORTEX; BRAIN STEM; CANCER PATIENT; CANCER SURVIVAL; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; FEMALE; GENE ACTIVITY; GENE AMPLIFICATION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; H3F3A GENE; HIST1H3B GENE; HUMAN; HUMAN TISSUE; IDH GENE; INCIDENCE; INFANT; K27M GENE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; ONCOGENE; PATHOGENESIS; PONTINE GLIOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TP53 GENE; WILD TYPE;

ADOLESCENT; BRAIN STEM NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION PROFILING; GLIOMA; HISTONES; HUMANS; INFANT; MALE; MUTATION; PONS; PROGNOSIS; SURVIVAL RATE;

EID: 84865863019     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-0998-0     Document Type: Article

References (26)

1. Bartels U, Hawkins C, Vezina G, Kun L, Souweidane M, Bouffet E (2011) Proceedings of the diffuse intrinsic pontine glioma (DIPG) Toronto Think Tank: advancing basic and translational research and cooperation in DIPG. J Neurooncol 105:119-125
2. Bernstein BE, Mikkelsen TS, Xie X, Kamal M, Huebert DJ, Cuff J, Fry B, Meissner A, Wernig M, Plath K, Jaenisch R, Wagschal A, Feil R, Schreiber SL, Lander ES (2006) A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 125:315-326
3. Bouffet E, Tabori U, Huang A, Bartels U (2010) Possibilities of new therapeutic strategies in brain tumors. Cancer Treat Rev 36:335-341
4. Broniscer A, Baker SJ, West AN, Fraser MM, Proko E, Kocak M, Dalton J, Zambetti GP, Ellison DW, Kun LE, Gajjar A, Gilbertson RJ, Fuller CE (2007) Clinical and molecular characteristics of malignant transformation of low-grade glioma in children. J Clin Oncol 25:682-689 (Pubitemid 350002924)
5. Bueno C, Montes R, Catalina P, Rodriguez R, Menendez P (2011) Insights into the cellular origin and etiology of the infant pro-B acute lymphoblastic leukemia with MLL-AF4 rearrangement. Leukemia 25:400-410
6. Carramusa L, Contino F, Ferro A, Minafra L, Perconti G, Giallongo A, Feo S (2007) The PVT-1 oncogene is a Myc protein target that is overexpressed in transformed cells. J Cell Physiol 213:511-518 (Pubitemid 47509734)
7. Dhayalan A, Tamas R, Bock I, Tattermusch A, Dimitrova E, Kudithipudi S, Ragozin S, Jeltsch A (2011) The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9. Hum Mol Genet 20:2195-2203
8. Fisher PG, Tihan T, Goldthwaite PT, Wharam MD, Carson BS, Weingart JD, Repka MX, Cohen KJ, Burger PC (2008) Outcome analysis of childhood low-grade astrocytomas. Pediatr Blood Cancer 51:245-250 (Pubitemid 351874420)
9. Freeman CR, Perilongo G (1999) Chemotherapy for brain stem gliomas. Childs Nerv Syst 15:545-553 (Pubitemid 29493580)
10. Gajjar A, Sanford RA, Heideman R, Jenkins JJ, Walter A, Li Y, Langston JW, Muhlbauer M, Boyett JM, Kun LE (1997) Lowgrade astrocytoma: a decade of experience at St. Jude Children's Research Hospital. J Clin Oncol 15:2792-2799 (Pubitemid 27330005)
11. Jansen MH, van Vuurden DG, Vandertop WP, Kaspers GJ (2012) Diffuse intrinsic pontine gliomas: a systematic update on clinical trials and biology. Cancer Treat Rev 38:27-35
12. Lewis PW, Elsaesser SJ, Noh KM, Stadler SC, Allis CD (2010) Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication- independent chromatin assembly at telomeres. Proc Natl Acad Sci USA 107:14075-14080
13. Maria BL, Rehder K, Eskin TA, Hamed LM, Fennell EB, Quisling RG, Mickle JP, Marcus RB Jr, Drane WE, Mendenhall NP et al (1993) Brainstem glioma: I. Pathology, clinical features, and therapy. J Child Neurol 8:112-128 (Pubitemid 23170745)
14. Meissner A, Mikkelsen TS, Gu H, Wernig M, Hanna J, Sivachenko A, Zhang X, Bernstein BE, Nusbaum C, Jaffe DB, Gnirke A, Jaenisch R, Lander ES (2008) Genome-scale DNA methylation maps of pluripotent and differentiated cells. Nature 454:766-770
15. Merchant TE, Pollack IF, Loeffler JS (2010) Brain tumors across the age spectrum: biology, therapy, and late effects. Semin Radiat Oncol 20:58-66
16. Meyer KB, Maia AT, O'Reilly M, Ghoussaini M, Prathalingam R, Porter-Gill P, Ambs S, Prokunina-Olsson L, Carroll J, Ponder BA (2011) A functional variant at a prostate cancer predisposition locus at 8q24 is associated with PVT1 expression. PLoS Genet 7:e1002165
17. Paugh BS, Broniscer A, Qu C, Miller CP, Zhang J, Tatevossian RG, Olson JM, Geyer JR, Chi SN, da Silva NS, Onar-Thomas A, Baker JN, Gajjar A, Ellison DW, Baker SJ (2011) Genome-wide analyses identify recurrent amplifications of receptor tyrosine kinases and cell-cycle regulatory genes in diffuse intrinsic pontine glioma. J Clin Oncol 29:3999-4006
18. 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 28:3061-3068
19. Pollack IF (1999) Pediatric brain tumors. Semin Surg Oncol 16:73-90 (Pubitemid 29070275)
20. Reynolds N, Salmon-Divon M, Dvinge H, Hynes-Allen A, Balasooriya G, Leaford D, Behrens A, Bertone P, Hendrich B (2011) NuRD-mediated deacetylation of H3K27 facilitates recruitment of Polycomb Repressive Complex 2 to direct gene repression. Embo J 31:593-605
21. Rutka JT, Kuo JS, Carter M, Ray A, Ueda S, Mainprize TG (2004) Advances in the treatment of pediatric brain tumors. Expert Rev Neurother 4:879-893 (Pubitemid 39186692)
22. Saran F (2002) Recent advances in paediatric neuro-oncology. Curr Opin Neurol 15:671-677 (Pubitemid 35471674)
23. 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 482:226-231
24. Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D (2008) Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci USA 105:11264-11269
25. 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 44:251-253
26. Zarghooni M, Bartels U, Lee E, Buczkowicz P, Morrison A, Huang A, Bouffet E, Hawkins C (2010) Whole-genome profiling of pediatric diffuse intrinsic pontine gliomas highlights plateletderived growth factor receptor alpha and poly (ADP-ribose) polymerase as potential therapeutic targets. J Clin Oncol 28:1337-1344