Evolving Understanding of the CLL Genome

被引：20

作者：

Gruber, Michaela ^{[1
,2
,3
]}

Wu, Catherine J. ^{[1
,2
,4
]}

机构：

[1] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA

[2] Broad Inst, Cambridge, MA USA

[3] Med Univ Vienna, Div Haematol & Haemostaseol, Dept Internal Med 1, Vienna, Austria

[4] Harvard Univ, Brigham & Womens Hosp, Dept Med, Sch Med, Boston, MA 02115 USA

来源：

SEMINARS IN HEMATOLOGY | 2014年 / 51卷 / 03期

关键词：

CHRONIC LYMPHOCYTIC-LEUKEMIA; CLONAL EVOLUTION; SF3B1; MUTATIONS; TP53; MUTATION; NOTCH1; BURKITT-LYMPHOMA; DNA METHYLATION; CELL LYMPHOMA; CODING GENOME; PROGNOSTIC CLASSIFICATION;

D O I：

10.1053/j.seminhematol.2014.05.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Over the past few years, massively parallel sequencing technologies have revealed with high resolution the tremendous genetic and epigenetic heterogeneity in chronic lymphocytic leukemia (CLL). We have learned how the molecular architecture differs not only between affected individuals but also within samples and over time. These insights have catalyzed our understanding of the pathobiology of CLL and point to critical signaling pathways in the development and progression of the disease. Several key driver alterations have been identified, which serve to refine prognostic schemata but also to inspire the development of new therapeutic strategies. Ongoing advances in technology promise to further elucidate the molecular basis of CLL, and this knowledge is anticipated to aid us in understanding and addressing the clinical challenge presented by the vast variability in the clinical course of patients with CLL. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：177 / 187

页数：11

共 84 条

[1] Signatures of mutational processes in human cancer [J].

Alexandrov, Ludmil B. ;

Nik-Zainal, Serena ;

Wedge, David C. ;

Aparicio, Samuel A. J. R. ;

Behjati, Sam ;

Biankin, Andrew V. ;

Bignell, Graham R. ;

Bolli, Niccolo ;

Borg, Ake ;

Borresen-Dale, Anne-Lise ;

Boyault, Sandrine ;

Burkhardt, Birgit ;

Butler, Adam P. ;

Caldas, Carlos ;

Davies, Helen R. ;

Desmedt, Christine ;

Eils, Roland ;

Eyfjord, Jorunn Erla ;

Foekens, John A. ;

Greaves, Mel ;

Hosoda, Fumie ;

Hutter, Barbara ;

Ilicic, Tomislav ;

Imbeaud, Sandrine ;

Imielinsk, Marcin ;

Jaeger, Natalie ;

Jones, David T. W. ;

Jones, David ;

Knappskog, Stian ;

Kool, Marcel ;

Lakhani, Sunil R. ;

Lopez-Otin, Carlos ;

Martin, Sancha ;

Munshi, Nikhil C. ;

Nakamura, Hiromi ;

Northcott, Paul A. ;

Pajic, Marina ;

Papaemmanuil, Elli ;

Paradiso, Angelo ;

Pearson, John V. ;

Puente, Xose S. ;

Raine, Keiran ;

Ramakrishna, Manasa ;

Richardson, Andrea L. ;

Richter, Julia ;

Rosenstiel, Philip ;

Schlesner, Matthias ;

Schumacher, Ton N. ;

Span, Paul N. ;

Teague, Jon W. .

NATURE, 2013, 500 (7463) :415-+

[2]

[Anonymous], 2014, NAT METHODS, V11, P1

[3] Functional impact of NOTCH1 mutations in chronic lymphocytic leukemia [J].

Arruga, F. ;

Gizdic, B. ;

Serra, S. ;

Vaisitti, T. ;

Ciardullo, C. ;

Coscia, M. ;

Laurenti, L. ;

D'Arena, G. ;

Jaksic, O. ;

Inghirami, G. ;

Rossi, D. ;

Gaidano, G. ;

Deaglio, S. .

LEUKEMIA, 2014, 28 (05) :1060-1070

[4] Punctuated Evolution of Prostate Cancer Genomes [J].

Baca, Sylvan C. ;

Prandi, Davide ;

Lawrence, Michael S. ;

Mosquera, Juan Miguel ;

Romanel, Alessandro ;

Drier, Yotam ;

Park, Kyung ;

Kitabayashi, Naoki ;

MacDonald, Theresa Y. ;

Ghandi, Mahmoud ;

Van Allen, Eliezer ;

Kryukov, Gregory V. ;

Sboner, Andrea ;

Theurillat, Jean-Philippe ;

Soong, T. David ;

Nickerson, Elizabeth ;

Auclair, Daniel ;

Tewari, Ashutosh ;

Beltran, Himisha ;

Onofrio, Robert C. ;

Boysen, Gunther ;

Guiducci, Candace ;

Barbieri, Christopher E. ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Carter, Scott L. ;

Saksena, Gordon ;

Voet, Douglas ;

Ramos, Alex H. ;

Winckler, Wendy ;

Cipicchio, Michelle ;

Ardlie, Kristin ;

Kantoff, Philip W. ;

Berger, Michael F. ;

Gabriel, Stacey B. ;

Golub, Todd R. ;

Meyerson, Matthew ;

Lander, Eric S. ;

Elemento, Olivier ;

Getz, Gad ;

Demichelis, Francesca ;

Rubin, Mark A. ;

Garraway, Levi A. .

CELL, 2013, 153 (03) :666-677

[5] Extensive Promoter DNA Hypermethylation and Hypomethylation Is Associated with Aberrant MicroRNA Expression in Chronic Lymphocytic Leukemia [J].

Baer, Constance ;

Claus, Rainer ;

Frenzel, Lukas P. ;

Zucknick, Manuela ;

Park, Yoon Jung ;

Gu, Lei ;

Weichenhan, Dieter ;

Fischer, Martina ;

Pallasch, Christian Philipp ;

Herpel, Esther ;

Rehli, Michael ;

Byrd, John C. ;

Wendtner, Clemens-Martin ;

Plass, Christoph .

CANCER RESEARCH, 2012, 72 (15) :3775-3785

[6] NOTCH1 mutations in CLL associated with trisomy 12 [J].

Balatti, Veronica ;

Bottoni, Arianna ;

Palamarchuk, Alexey ;

Alder, Hansjuerg ;

Rassenti, Laura Z. ;

Kipps, Thomas J. ;

Pekarsky, Yuri ;

Croce, Carlo M. .

BLOOD, 2012, 119 (02) :329-331

[7] Genetic imbalances in progressed B-cell chronic lymphocytic leukemia and transformed large-cell lymphoma (Richter's syndrome) [J].

Beà, S ;

López-Guillermo, A ;

Ribas, M ;

Puig, X ;

Pinyol, M ;

Carrió, A ;

Zamora, L ;

Sole, F ;

Bosch, F ;

Stilgenbauer, S ;

Colomer, D ;

Miró, R ;

Montserrat, E ;

Campo, E .

AMERICAN JOURNAL OF PATHOLOGY, 2002, 161 (03) :957-968

[8] Landscape of somatic mutations and clonal evolution in mantle cell lymphoma [J].

Bea, Silvia ;

Valdes-Mas, Rafael ;

Navarro, Alba ;

Salaverria, Itziar ;

Martin-Garcia, David ;

Jares, Pedro ;

Gine, Eva ;

Pinyol, Magda ;

Royo, Cristina ;

Nadeu, Ferran ;

Conde, Laura ;

Juan, Manel ;

Clot, Guillem ;

Vizan, Pedro ;

Di Croce, Luciano ;

Puente, Diana A. ;

Lopez-Guerra, Monica ;

Moros, Alexandra ;

Roue, Gael ;

Aymerich, Marta ;

Villamor, Neus ;

Colomo, Lluis ;

Martinez, Antonio ;

Valera, Alexandra ;

Martin-Subero, Jose I. ;

Amador, Virginia ;

Hernandez, Luis ;

Rozman, Maria ;

Enjuanes, Anna ;

Forcada, Pilar ;

Muntanola, Ana ;

Hartmann, Elena M. ;

Calasanz, Maria J. ;

Rosenwald, Andreas ;

Ott, German ;

Hernandez-Rivas, Jesus M. ;

Klapper, Wolfram ;

Siebert, Reiner ;

Wiestner, Adrian ;

Wilson, Wyndham H. ;

Colomer, Dolors ;

Lopez-Guillermo, Armando ;

Lopez-Otin, Carlos ;

Puente, Xose S. ;

Campo, Elias .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (45) :18250-18255

[9] Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia [J].

Berndt, Sonja I. ;

Skibola, Christine F. ;

Joseph, Vijai ;

Camp, Nicola J. ;

Nieters, Alexandra ;

Wang, Zhaoming ;

Cozen, Wendy ;

Monnereau, Alain ;

Wang, Sophia S. ;

Kelly, Rachel S. ;

Lan, Qing ;

Teras, Lauren R. ;

Chatterjee, Nilanjan ;

Chung, Charles C. ;

Yeager, Meredith ;

Brooks-Wilson, Angela R. ;

Hartge, Patricia ;

Purdue, Mark P. ;

Birmann, Brenda M. ;

Armstrong, Bruce K. ;

Cocco, Pierluigi ;

Zhang, Yawei ;

Severi, Gianluca ;

Zeleniuch-Jacquotte, Anne ;

Lawrence, Charles ;

Burdette, Laurie ;

Yuenger, Jeffrey ;

Hutchinson, Amy ;

Jacobs, Kevin B. ;

Call, Timothy G. ;

Shanafelt, Tait D. ;

Novak, Anne J. ;

Kay, Neil E. ;

Liebow, Mark ;

Wang, Alice H. ;

Smedby, Karin E. ;

Adami, Hans-Olov ;

Melbye, Mads ;

Glimelius, Bengt ;

Chang, Ellen T. ;

Glenn, Martha ;

Curtin, Karen ;

Cannon-Albright, Lisa A. ;

Jones, Brandt ;

Diver, W. Ryan ;

Link, Brian K. ;

Weiner, George J. ;

Conde, Lucia ;

Bracci, Paige M. ;

Riby, Jacques .

NATURE GENETICS, 2013, 45 (08) :868-876

[10]

BINET JL, 1981, CANCER-AM CANCER SOC, V48, P198, DOI 10.1002/1097-0142(19810701)48:1<198::AID-CNCR2820480131>3.0.CO

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