Mutational landscape and clonal architecture in grade II and III gliomas

被引：641

作者：

Suzuki, Hiromichi ^{[1
,2
]}

Aoki, Kosuke ^{[1
,2
]}

Chiba, Kenichi ^{[3
]}

Sato, Yusuke ^{[2
]}

Shiozawa, Yusuke ^{[2
]}

Shiraishi, Yuichi ^{[3
]}

Shimamura, Teppei ^{[4
]}

Niida, Atsushi ^{[3
]}

Motomura, Kazuya ^{[1
]}

Ohka, Fumiharu ^{[1
,5
]}

Yamamoto, Takashi ^{[1
]}

Tanahashi, Kuniaki ^{[1
]}

Ranjit, Melissa ^{[1
]}

Wakabayashi, Toshihiko ^{[1
]}

Yoshizato, Tetsuichi ^{[2
]}

Kataoka, Keisuke ^{[2
]}

Yoshida, Kenichi ^{[2
]}

Nagata, Yasunobu ^{[2
]}

Sato-Otsubo, Aiko ^{[2
]}

Tanaka, Hiroko ^{[3
]}

Sanada, Masashi ^{[2
]}

Kondo, Yutaka ^{[5
]}

Nakamura, Hideo ^{[6
]}

Mizoguchi, Masahiro ^{[7
]}

Abe, Tatsuya ^{[8
]}

Muragaki, Yoshihiro ^{[9
]}

Watanabe, Reiko ^{[10
]}

Ito, Ichiro ^{[10
]}

Miyano, Satoru ^{[3
]}

Natsume, Atsushi ^{[1
]}

Ogawa, Seishi ^{[2
]}

机构：

[1] Nagoya Univ, Sch Med, Dept Neurosurg, Nagoya, Aichi 466, Japan

[2] Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan

[3] Univ Tokyo, Inst Med Sci, Human Genome Ctr, Tokyo, Japan

[4] Nagoya Univ, Sch Med, Div Syst Biol, Nagoya, Aichi 466, Japan

[5] Nagoya City Univ, Grad Sch Med Sci, Dept Epigen, Nagoya, Aichi, Japan

[6] Kumamoto Univ, Dept Neurosurg, Kumamoto, Japan

[7] Kyushu Univ, Grad Sch Med Sci, Dept Neurosurg, Fukuoka 812, Japan

[8] Oita Univ, Dept Neurosurg, Oita 87011, Japan

[9] Tokyo Womens Med Univ, Dept Neurosurg, Tokyo, Japan

[10] Shizuoka Canc Ctr, Div Clin Pathol, Shizuoka, Japan

来源：

NATURE GENETICS | 2015年 / 47卷 / 05期

关键词：

IDH2; MUTATIONS; INTRATUMOR HETEROGENEITY; ADJUVANT TEMOZOLOMIDE; GENETIC ALTERATIONS; ASTROCYTIC TUMORS; MALIGNANT GLIOMAS; SURVIVAL RATES; FREQUENT ATRX; EVOLUTION; CANCER;

D O I：

10.1038/ng.3273

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Grade II and III gliomas are generally slowly progressing brain cancers, many of which eventually transform into more aggressive tumors. Despite recent findings of frequent mutations in IDH1 and other genes, knowledge about their pathogenesis is still incomplete. Here, combining two large sets of high-throughput sequencing data, we delineate the entire picture of genetic alterations and affected pathways in these glioma types, with sensitive detection of driver genes. Grade II and III gliomas comprise three distinct subtypes characterized by discrete sets of mutations and distinct clinical behaviors. Mutations showed significant positive and negative correlations and a chronological hierarchy, as inferred from different allelic burdens among coexisting mutations, suggesting that there is functional interplay between the mutations that drive clonal selection. Extensive serial and multi-regional sampling analyses further supported this finding and also identified a high degree of temporal and spatial heterogeneity generated during tumor expansion and relapse, which is likely shaped by the complex but ordered processes of multiple clonal selection and evolutionary events.

引用

页码：458 / U52

页数：14

共 65 条

[11] Detection, Characterization, and Inhibition of FGFR-TACC Fusions in IDH Wild-type Glioma [J].

Di Stefano, Anna Luisa ;

Fucci, Alessandra ;

Frattini, Veronique ;

Labussiere, Marianne ;

Mokhtari, Karima ;

Zoppoli, Pietro ;

Marie, Yannick ;

Bruno, Aurelie ;

Boisselier, Blandine ;

Giry, Marine ;

Savatovsky, Julien ;

Touat, Mehdi ;

Belaid, Hayat ;

Kamoun, Aurelie ;

Idbaih, Ahmed ;

Houillier, Caroline ;

Luo, Feng R. ;

Soria, Jean-Charles ;

Tabernero, Josep ;

Eoli, Marica ;

Paterra, Rosina ;

Yip, Stephen ;

Petrecca, Kevin ;

Chan, Jennifer A. ;

Finocchiaro, Gaetano ;

Lasorella, Anna ;

Sanson, Marc ;

Iavarone, Antonio .

CLINICAL CANCER RESEARCH, 2015, 21 (14) :3307-3317

[12] Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing [J].

Ding, Li ;

Ley, Timothy J. ;

Larson, David E. ;

Miller, Christopher A. ;

Koboldt, Daniel C. ;

Welch, John S. ;

Ritchey, Julie K. ;

Young, Margaret A. ;

Lamprecht, Tamara ;

McLellan, Michael D. ;

McMichael, Joshua F. ;

Wallis, John W. ;

Lu, Charles ;

Shen, Dong ;

Harris, Christopher C. ;

Dooling, David J. ;

Fulton, Robert S. ;

Fulton, Lucinda L. ;

Chen, Ken ;

Schmidt, Heather ;

Kalicki-Veizer, Joelle ;

Magrini, Vincent J. ;

Cook, Lisa ;

McGrath, Sean D. ;

Vickery, Tammi L. ;

Wendl, Michael C. ;

Heath, Sharon ;

Watson, Mark A. ;

Link, Daniel C. ;

Tomasson, Michael H. ;

Shannon, William D. ;

Payton, Jacqueline E. ;

Kulkarni, Shashikant ;

Westervelt, Peter ;

Walter, Matthew J. ;

Graubert, Timothy A. ;

Mardis, Elaine R. ;

Wilson, Richard K. ;

DiPersio, John F. .

NATURE, 2012, 481 (7382) :506-510

[13] Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas [J].

Fontebasso, Adam M. ;

Schwartzentruber, Jeremy ;

Dong-Anh Khuong-Quang ;

Liu, Xiao-Yang ;

Sturm, Dominik ;

Korshunov, Andrey ;

Jones, David T. W. ;

Witt, Hendrik ;

Kool, Marcel ;

Albrecht, Steffen ;

Fleming, Adam ;

Hadjadj, Djihad ;

Busche, Stephan ;

Lepage, Pierre ;

Montpetit, Alexandre ;

Staffa, Alfredo ;

Gerges, Noha ;

Zakrzewska, Magdalena ;

Zakrzewski, Krzystof ;

Liberski, Pawel P. ;

Hauser, Peter ;

Garami, Miklos ;

Klekner, Almos ;

Bognar, Laszlo ;

Zadeh, Gelareh ;

Faury, Damien ;

Pfister, Stefan M. ;

Jabado, Nada ;

Majewski, Jacek .

ACTA NEUROPATHOLOGICA, 2013, 125 (05) :659-669

[14] The integrated landscape of driver genomic alterations in glioblastoma [J].

Frattini, Veronique ;

Trifonov, Vladimir ;

Chan, Joseph Minhow ;

Castano, Angelica ;

Lia, Marie ;

Abate, Francesco ;

Keir, Stephen T. ;

Ji, Alan X. ;

Zoppoli, Pietro ;

Niola, Francesco ;

Danussi, Carla ;

Dolgalev, Igor ;

Porrati, Paola ;

Pellegatta, Serena ;

Heguy, Adriana ;

Gupta, Gaurav ;

Pisapia, David J. ;

Canoll, Peter ;

Bruce, Jeffrey N. ;

McLendon, Roger E. ;

Yan, Hai ;

Aldape, Ken ;

Finocchiaro, Gaetano ;

Mikkelsen, Tom ;

Prive, Gilbert G. ;

Bigner, Darell D. ;

Lasorella, Anna ;

Rabadan, Raul ;

Iavarone, Antonio .

NATURE GENETICS, 2013, 45 (10) :1141-U270

[15] Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing [J].

Gerlinger, Marco ;

Horswell, Stuart ;

Larkin, James ;

Rowan, Andrew J. ;

Salm, Max P. ;

Varela, Ignacio ;

Fisher, Rosalie ;

McGranahan, Nicholas ;

Matthews, Nicholas ;

Santos, Claudio R. ;

Martinez, Pierre ;

Phillimore, Benjamin ;

Begum, Sharmin ;

Rabinowitz, Adam ;

Spencer-Dene, Bradley ;

Gulati, Sakshi ;

Bates, Paul A. ;

Stamp, Gordon ;

Pickering, Lisa ;

Gore, Martin ;

Nicol, David L. ;

Hazell, Steven ;

Futreal, P. Andrew ;

Stewart, Aengus ;

Swanton, Charles .

NATURE GENETICS, 2014, 46 (03) :225-+

[16] Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing [J].

Gerlinger, Marco ;

Rowan, Andrew J. ;

Horswell, Stuart ;

Larkin, James ;

Endesfelder, David ;

Gronroos, Eva ;

Martinez, Pierre ;

Matthews, Nicholas ;

Stewart, Aengus ;

Tarpey, Patrick ;

Varela, Ignacio ;

Phillimore, Benjamin ;

Begum, Sharmin ;

McDonald, Neil Q. ;

Butler, Adam ;

Jones, David ;

Raine, Keiran ;

Latimer, Calli ;

Santos, Claudio R. ;

Nohadani, Mahrokh ;

Eklund, Aron C. ;

Spencer-Dene, Bradley ;

Clark, Graham ;

Pickering, Lisa ;

Stamp, Gordon ;

Gore, Martin ;

Szallasi, Zoltan ;

Downward, Julian ;

Futreal, P. Andrew ;

Swanton, Charles .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (10) :883-892

[17] Landscape of genetic lesions in 944 patients with myelodysplastic syndromes [J].

Haferlach, T. ;

Nagata, Y. ;

Grossmann, V. ;

Okuno, Y. ;

Bacher, U. ;

Nagae, G. ;

Schnittger, S. ;

Sanada, M. ;

Kon, A. ;

Alpermann, T. ;

Yoshida, K. ;

Roller, A. ;

Nadarajah, N. ;

Shiraishi, Y. ;

Shiozawa, Y. ;

Chiba, K. ;

Tanaka, H. ;

Koeffler, H. P. ;

Klein, H-U ;

Dugas, M. ;

Aburatani, H. ;

Kohlmann, A. ;

Miyano, S. ;

Haferlach, C. ;

Kern, W. ;

Ogawa, S. .

LEUKEMIA, 2014, 28 (02) :241-247

[18] Comprehensive genomic characterization of squamous cell lung cancers [J].

Hammerman, Peter S. ;

Lawrence, Michael S. ;

Voet, Douglas ;

Jing, Rui ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Stojanov, Petar ;

McKenna, Aaron ;

Lander, Eric S. ;

Gabriel, Stacey ;

Getz, Gad ;

Sougnez, Carrie ;

Imielinski, Marcin ;

Helman, Elena ;

Hernandez, Bryan ;

Pho, Nam H. ;

Meyerson, Matthew ;

Chu, Andy ;

Chun, Hye-Jung E. ;

Mungall, Andrew J. ;

Pleasance, Erin ;

Robertson, A. Gordon ;

Sipahimalani, Payal ;

Stoll, Dominik ;

Balasundaram, Miruna ;

Birol, Inanc ;

Butterfield, Yaron S. N. ;

Chuah, Eric ;

Coope, Robin J. N. ;

Corbett, Richard ;

Dhalla, Noreen ;

Guin, Ranabir ;

Hirst, Anhe Carrie ;

Hirst, Martin ;

Holt, Robert A. ;

Lee, Darlene ;

Li, Haiyan I. ;

Mayo, Michael ;

Moore, Richard A. ;

Mungall, Karen ;

Nip, Ka Ming ;

Olshen, Adam ;

Schein, Jacqueline E. ;

Slobodan, Jared R. ;

Tam, Angela ;

Thiessen, Nina ;

Varhol, Richard ;

Zeng, Thomas ;

Zhao, Yongjun ;

Jones, Steven J. M. .

NATURE, 2012, 489 (7417) :519-525

[19] Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas [J].

Hartmann, Christian ;

Hentschel, Bettina ;

Wick, Wolfgang ;

Capper, David ;

Felsberg, Joerg ;

Simon, Matthias ;

Westphal, Manfred ;

Schackert, Gabriele ;

Meyermann, Richard ;

Pietsch, Torsten ;

Reifenberger, Guido ;

Weller, Michael ;

Loeffler, Markus ;

von Deimling, Andreas .

ACTA NEUROPATHOLOGICA, 2010, 120 (06) :707-718

[20] Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas [J].

Hartmann, Christian ;

Meyer, Jochen ;

Balss, Joerg ;

Capper, David ;

Mueller, Wolf ;

Christians, Arne ;

Felsberg, Joerg ;

Wolter, Marietta ;

Mawrin, Christian ;

Wick, Wolfgang ;

Weller, Michael ;

Herold-Mende, Christel ;

Unterberg, Andreas ;

Jeuken, Judith W. M. ;

Wesseling, Peter ;

Reifenberger, Guido ;

von Deimling, Andreas .

ACTA NEUROPATHOLOGICA, 2009, 118 (04) :469-474

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