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

Springer Science and Business Media LLC - Tập 124 Số 3 - Trang 439-447 - 2012
Dong-Anh Khuong-Quang1, Pawel Buczkowicz2, Patricia Rakopoulos2, Xiao-Yang Liu1, Adam M. Fontebasso3, Éric Bouffet4, Ute Bartels4, Steffen Albrecht5, Jeremy Schwartzentruber6, Louis Létourneau6, Mathieu Bourgey6, Guillaume Bourque6, Alexandre Montpetit6, Geneviève Bourret6, Pierre Lepage6, Adam Fleming7, Peter Lichter8, Marcel Kool9, Andreas von Deimling10, Dominik Sturm9, Andrey Korshunov10, Damien Faury7, David Jones9, Jacek Majewski6, Stefan M. Pfister9, Nada Jabado7, Cynthia Hawkins11
1Department of Human Genetics, McGill University, Montreal, QC, Canada
2The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
3Division of Experimental Medicine, McGill University, Montreal, Canada.
4Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada
5Department of Pathology, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC, H1P 2P3, Canada
6McGill University and Genome Quebec Innovation Center, Montreal, Canada
7Department of Paediatrics, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC, H1P 2P3, Canada
8Division of Molecular Genetics, The German Cancer Research Center (DKFZ), Heidelberg, Germany
9Division of Pediatric Neuro-oncology, The German Cancer Research Center (DKFZ), Heidelberg, Germany
10Clinical Cooperation Unit Neuropathology, The German Cancer Research Center (DKFZ), Heidelberg, Germany
11Division of Pathology, The Hospital for Sick Children, Toronto, Canada

Tóm tắt

Từ khóa


Tài liệu tham khảo

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

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

Bouffet E, Tabori U, Huang A, Bartels U (2010) Possibilities of new therapeutic strategies in brain tumors. Cancer Treat Rev 36:335–341

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

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

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

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

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

Freeman CR, Perilongo G (1999) Chemotherapy for brain stem gliomas. Childs Nerv Syst 15:545–553

Gajjar A, Sanford RA, Heideman R, Jenkins JJ, Walter A, Li Y, Langston JW, Muhlbauer M, Boyett JM, Kun LE (1997) Low-grade astrocytoma: a decade of experience at St. Jude Children’s Research Hospital. J Clin Oncol 15:2792–2799

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

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

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

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

Merchant TE, Pollack IF, Loeffler JS (2010) Brain tumors across the age spectrum: biology, therapy, and late effects. Semin Radiat Oncol 20:58–66

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

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

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

Pollack IF (1999) Pediatric brain tumors. Semin Surg Oncol 16:73–90

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

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

Saran F (2002) Recent advances in paediatric neuro-oncology. Curr Opin Neurol 15:671–677

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

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

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 non-brainstem glioblastomas. Nat Genet 44:251–253

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 platelet-derived growth factor receptor alpha and poly (ADP-ribose) polymerase as potential therapeutic targets. J Clin Oncol 28:1337–1344