Acquired initiating mutations in early hematopoietic cells of CLL patients

Cancer Discovery

Volumn 4, Issue 9, 2014, Pages 1088-1101

  Damm, Frederik ^a,b   Mylonas, Elena ^a,b   Cosson, Adrien ^a,c   Yoshida, Kenichi ^j,m   Della Valle, Véronique ^a,b,g   Mouly, Enguerran ^a,b,g   Diop, M'boyba ^a,b   Scourzic, Laurianne ^a,b,g   Shiraishi, Yuichi ^k,l   Chiba, Kenichi ^k,l   Tanaka, Hiroko ^k,l   Miyano, Satoru ^k,l   Kikushige, Yoshikane ⁿ   Davi, Frederick ^a,c,d   Lambert, Jérôme ^e   Gautheret, Daniel ^b,h   Merle Béral, Hélène ^a,c,d   Sutton, Laurent ⁱ   Dessen, Philippe ^a,b   Solary, Eric ^a,b,f,g   Akashi, Koichi ⁿ   Vainchenker, William ^a,b,g   Mercher, Thomas ^a,b,g   Droin, Nathalie ^a,b,g   Ogawa, Seishi ^j,m   Nguyen Khac, Florence ^a,c,d   Bernard, Olivier A ^a,b,f,g   more..

^a INSERM   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f Ligue Nationale Contre le Cancer   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

^h INSTITUTE FOR INTEGRATIVE BIOLOGY OF THE CELL I2BC   (France)

ⁱ CENTRE HOSPITALIER VICTOR DUPOUY   (France)

^j KYOTO UNIVERSITY   (Japan)

^k Laboratory of DNA Information Analysis   (Japan)

^l UNIVERSITY OF TOKYO   (Japan)

^m KYOTO UNIVERSITY   (Japan)

ⁿ KYUSHU UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; LYMPHOCYTE ANTIGEN RECEPTOR; PHOSPHOPROTEIN; SF3B1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN;

CHRONIC LYMPHATIC LEUKEMIA; CLUSTER ANALYSIS; GENE EXPRESSION PROFILING; GENETICS; HEMATOPOIETIC STEM CELL; HUMAN; METABOLISM; MULTIPOTENT STEM CELL; MUTATION; PATHOLOGY; SIGNAL TRANSDUCTION;

CLUSTER ANALYSIS; GENE EXPRESSION PROFILING; HEMATOPOIETIC STEM CELLS; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MULTIPOTENT STEM CELLS; MUTATION; PHOSPHOPROTEINS; RECEPTORS, ANTIGEN, B-CELL; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; SIGNAL TRANSDUCTION;

EID: 84906908742     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-14-0104     Document Type: Article

References (50)

1. Jan M, Snyder TM, Corces-Zimmerman MR, Vyas P, Weissman IL, Quake SR, et al. Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med 2012;4:149ra18.
2. Welch JS, Ley TJ, Link DC, Miller CA, Larson DE, Koboldt DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012;150:264-78.
3. Zenz T, Mertens D, Kuppers R, Dohner H, Stilgenbauer S. From pathogenesis to treatment of chronic lymphocytic leukaemia. Nat Rev Cancer 2010;10:37-50.
4. Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011;365:2497-506.
5. Quesada V, Conde L, Villamor N, Ordonez GR, Jares P, Bassaganyas L, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2011;44:47-52.
6. Burger JA, Chiorazzi N. B cell receptor signaling in chronic lymphocytic leukemia. Trends Immunol 2013;34:592-601.
7. Herishanu Y, Perez-Galan P, Liu D, Biancotto A, Pittaluga S, Vire B, et al. The lymph node microenvironment promotes B-cell receptor signaling, NF-kappaB activation, and tumor proliferation in chronic lymphocytic leukemia. Blood 2011;117:563-74.
8. Seifert M, Sellmann L, Bloehdorn J, Wein F, Stilgenbauer S, Durig J, et al. Cellular origin and pathophysiology of chronic lymphocytic leukemia. J Exp Med 2012;209:2183-98.
9. Kikushige Y, Ishikawa F, Miyamoto T, Shima T, Urata S, Yoshimoto G, et al. Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia. Cancer Cell 2011;20:246-59.
10. Damm F, Kosmider O, Gelsi-Boyer V, Renneville A, Carbuccia N, Hidalgo-Curtis C, et al. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood 2012;119:3211-8.
11. Ebert B, Bernard O.A. Mutations in RNA splicing machinery in human cancers. N Engl J Med 2011;365:2534-5.
12. Puente XS, Pinyol M, Quesada V, Conde L, Ordonez GR, Villamor N, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011;475:101-5.
13. Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med 2011;364: 2305-15.
14. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 2011;476:298-303.
15. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, et al. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med 2012;209:1537-51.
16. Domenech E, Gomez-Lopez G, Gzlez-Pena D, Lopez M, Herreros B, Menezes J, et al. New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. PLoS ONE 2012;7:e38158.
17. Sutton L, Chevret S, Tournilhac O, Divine M, Leblond V, Corront B, et al. Autologous stem cell transplantation as a first-line treatment strategy for chronic lymphocytic leukemia: a multicenter, randomized, controlled trial from the SFGM-TC and GFLLC. Blood 2011;117:6109-19.
18. Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004;116:855-67.
19. Yasuda T, Sanjo H, Pages G, Kawano Y, Karasuyama H, Pouyssegur J, et al. Erk kinases link pre-B cell receptor signaling to transcriptional events required for early B cell expansion. Immunity 2008;28:499-508.
20. Chavrier P, Zerial M, Lemaire P, Almendral J, Bravo R, Charnay P. A gene encoding a protein with zinc fingers is activated during G0/G1 transition in cultured cells. EMBO J 1988;7:29-35.
21. Dhomen N, Marais R. New insight into BRAF mutations in cancer. Curr Opin Genet Dev 2007;17:31-9.
22. Jebaraj BM, Kienle D, Buhler A, Winkler D, Dohner H, Stilgenbauer S, et al. BRAF mutations in chronic lymphocytic leukemia. Leuk Lymphoma 2013;54:1177-82.
23. Laslo P, Spooner CJ, Warmflash A, Lancki DW, Lee HJ, Sciammas R, et al. Multilineage transcriptional priming and determination of alternate hematopoietic cell fates. Cell 2006;126:755-66.
24. Li S, Symonds AL, Zhu B, Liu M, Raymond MV, Miao T, et al. Early growth response gene-2 (Egr-2) regulates the development of B and T cells. PloS ONE 2011;6:e18498.
25. Zheng Y, Zha Y, Driessens G, Locke F, Gajewski T.F. Transcriptional regulator early growth response gene 2 (Egr2) is required for T cell anergy in vitro and in vivo. J Exp Med 2012;209:2157-63.
26. Nardelli J, Gibson T, Charnay P. Zinc finger-DNA recognition: analysis of base specificity by site-directed mutagenesis. Nucleic Acids Res 1992;20:4137-44.
27. Pham TH, Benner C, Lichtinger M, Schwarzfischer L, Hu Y, Andreesen R, et al. Dynamic epigenetic enhancer signatures reveal key transcription factors associated with monocytic differentiation states. Blood 2012;119:e161-71.
28. Herold T, Jurinovic V, Mulaw M, Seiler T, Dufour A, Schneider S, et al. Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20. Genes Chromosomes Cancer 2011;50:546-58.
29. Vallat LD, Park Y, Li C, Gribben J.G. Temporal genetic program following B-cell receptor cross-linking: altered balance between proliferation and death in healthy and malignant B cells. Blood 2007;109: 3989-97.
30. Vallat L, Kemper CA, Jung N, Maumy-Bertrand M, Bertrand F, Meyer N, et al. Reverse-engineering the genetic circuitry of a cancer cell with predicted intervention in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 2013;110:459-64.
31. Whiteside ST, Epinat JC, Rice NR, Israel A. I kappa B epsilon, a novel member of the I kappa B family, controls RelA and cRel NF-kappa B activity. EMBO J 1997;16:1413-26.
32. Memet S, Laouini D, Epinat JC, Whiteside ST, Goudeau B, Philpott D, et al. IkappaBepsilon-deficient mice: reduction of one T cell precursor subspecies and enhanced Ig isotype switching and cytokine synthesis. J Immunol 1999;163:5994-6005.
33. Emmerich F, Theurich S, Hummel M, Haeffker A, Vry MS, Dohner K, et al. Inactivating I kappa B epsilon mutations in Hodgkin/Reed-Sternberg cells. J Pathol 2003;201:413-20.
34. Musso M, Balestra P, Taroni F, Bellone E, Mandich P. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. Neurobiol Dis 2003;12:89-95.
35. Warner LE, Svaren J, Milbrandt J, Lupski J.R. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 1999;8: 1245-51.
36. Brummer T, Shaw PE, Reth M, Misawa Y. Inducible gene deletion reveals different roles for B-Raf and Raf-1 in B-cell antigen receptor signalling. EMBO J 2002;21:5611-22.
37. Li S, Miao T, Sebastian M, Bhullar P, Ghaffari E, Liu M, et al. The transcription factors egr2 and egr3 are essential for the control of inflammation and antigen-induced proliferation of B and T cells. Immunity 2012;37:685-96.
38. Ferreira PG, Jares P, Rico D, Gomez-Lopez G, Martinez-Trillos A, Villamor N, et al. Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia. Genome Res 2014;24:212-26.
39. Goardon N, Marchi E, Atzberger A, Quek L, Schuh A, Soneji S, et al. Coexistence of LMPP-like and GMP-like leukemia stem cells in acute myeloid leukemia. Cancer Cell 2011;19:138-52.
40. Couronne L, Bastard C, Bernard O.A. TET2 and DNMT3A mutations in human T-cell lymphoma. N Engl J Med 2012;366:95-6.
41. Quivoron C, Couronne L, Della Valle V, Lopez CK, Plo I, Wagner-Ballon O, et al. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell 2011;20:25-38.
42. Vicente-Duenas C, Fontan L, Gonzalez-Herrero I, Romero-Camarero I, Segura V, Aznar MA, et al. Expression of MALT1 oncogene in hematopoietic stem/progenitor cells recapitulates the pathogenesis of human lymphoma in mice. Proc Natl Acad Sci U S A 2012;109: 10534-9.
43. Weigert O, Kopp N, Lane AA, Yoda A, Dahlberg SE, Neuberg D, et al. Molecular ontogeny of donor-derived follicular lymphomas occurring after hematopoietic cell transplantation. Cancer Discov 2012;2:47-55.
44. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011;478:64-9.
45. Anders S, Huber W. Differential expression analysis for sequence count data. Genome Biol 2010;11:R106.
46. Margolin AA, Nemenman I, Basso K, Wiggins C, Stolovitzky G, Dalla Favera R, et al. ARACNE: an algorithm for the reconstruction of gene regulatory networks in a mammalian cellular context. BMC Bioinformatics 2006;7(Suppl 1):S7.
47. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 2005;102:15545-50.
48. Nguyen-Khac F, Lambert J, Chapiro E, Grelier A, Mould S, Barin C, et al. Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenstrom's macroglobulinemia. Haematologica 2013;98:649-54.
49. Dupont S, Masse A, James C, Teyssandier I, Lecluse Y, Larbret F, et al. The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. Blood 2007;109:71-7.
50. Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C, et al. Activating mutations in human acute megakaryoblastic leukemia. Blood 2008;112:4220-6.