Molecular and transcriptional characterization of the novel 17p11.2-p12 amplicon in multiple myeloma

Genes Chromosomes and Cancer

Volumn 46, Issue 12, 2007, Pages 1109-1118

  Fabris, Sonia ^a   Todoerti, Katia ^a,b   Mosca, Laura ^a   Agnelli, Luca ^a   Intini, Daniela ^a   Lionetti, Marta ^a   Guerneri, Silvana ^a   Lambertenghi Deliliers, Giorgio ^b   Bertoni, Francesco ^c   Neri, Antonino ^a,b,d  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c ONCOLOGY INSTITUTE OF SOUTHERN SWITZERLAND   (Switzerland)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMPLICON; ARTICLE; CHROMOSOME 17P; CONTROLLED STUDY; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION PROFILING; GENE LOCUS; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; MULTIPLE MYELOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TAC1 GENE; TP53 GENE; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; CELL LINE, TUMOR; CHROMOSOMES, HUMAN, PAIR 17; GENE AMPLIFICATION; GENE EXPRESSION PROFILING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MULTIPLE MYELOMA; TRANSCRIPTION, GENETIC;

EID: 35348945343     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20494     Document Type: Article

References (50)

1. Agnelli L, Bicciato S, Mattioli M, Fabris S, Intini D, Verdelli D, Baldini L, Morabito F, Callea V, Lombardi L, Neri A. 2005. Molecular classification of multiple myeloma: A distinct transcriptional profile characterizes patients expressing CCND1 and negative for 14q32 translocations. J Clin Oncol 23:7296-7306.
2. Agnelli L, Fabris S, Bicciato S, Basso D, Baldini L, Morabito F, Verdelli D, Todoerti K, Lambertenghi-Deliliers G, Lombardi L, Neri A. 2007. Upregulation of translational machinery and distinct genetic subgroups characterise hyperdiploidy in multiple myeloma. Br J Haematol 136:565-573.
3. Baird K, Davis S, Antonescu CR, Harper UL, Walker RL, Chen Y, Glatfelter AA, Duray PH, Meltzer PS. 2005. Gene expression profiling of human sarcomas: Insights into sarcoma biology. Cancer Res 65:9226-9235.
4. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Hoglund M, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T. 2004. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet 74:1-10.
5. Bech-Otschir D, Seeger M, Dubiel W. 2002. The COP9 signalosome: At the interface between signal transduction and ubiquitin-dependent proteolysis. J Cell Sci 115:467-473.
6. Bergsagel PL, Kuehl WM. 2001. Chromosome translocations in multiple myeloma. Oncogene 20:5611-5622.
7. Byrne PC, Shipley JM, Chave KJ, Sanders PG, Snell K. 1996. Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p.32.3-33. Hum Genet 97:340-344.
8. El-Rifai W, Sarlomo-Rikala M, Knuutila S, Miettinen M. 1998. DNA copy number changes in development and progression in leiomyosarcomas of soft tissues. Am J Pathol 153:985-990.
9. Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. 1995. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet 57:1342-1350.
10. Ettinger SL, Sobel R, Whitmore TG, Akbari M, Bradley DR, Gleave ME, Nelson CC. 2004. Dysregulation of sterol response element-binding proteins and downstream effectors in prostate cancer during progression to androgen independence. Cancer Res 64:2212-2221.
11. Fabris S, Agnelli L, Mattioli M, Baldini L, Ronchetti D, Morabito F, Verdelli D, Nobili L, Intini D, Callea V, Stelitano C, Lombardi L, Neri A. 2005. Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses. Genes Chromosomes Cancer 42:117-127.
12. Fink SR, Smoley SA, Stockero KJ, Paternoster SF, Thorland EC, Van Dyke DL, Shanafelt TD, Zent CS, Call TG, Kay NE, Dewaid GW. 2006. Loss of TP53 is due to rearrangements involving chromosome region 17p10 approximately p12 in chronic lymphocytic leukemia. Cancer Genet Cytogenet 167:177-181.
13. Fioretos T, Strombeck B, Sandberg T, Johansson B, Billstrom R, Borg A, Nilsson PG, Van Den BH, Hagemeijer A, Mitelman F, Hoglund M. 1999. Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. Blood 94:225-232.
14. Fonseca R, Debes-Marun CS, Picken EB, Dewald GW, Bryant SC, Winkler JM, Blood E, Oken MM, Santana-Davila R, Gonzalez-Paz N, Kyle RA, Gertz MA, Dispenzieri A, Lacy MQ, Greipp PR. 2003. The recurrent IgH translocations are highly associated with nonhyperdiploid variant multiple myeloma. Blood 102:2562-2567.
15. Fonseca R, Barlogie B, Bataille R, Bastard C, Bergsagel PL, Chesi M, Davies FE, Drach J, Greipp PR, Kirsch IR, Kuehl WM, Hernandez JM, Minvielle S, Pilarski LM, Shaughnessy JD Jr., Stewart AK, Avet-Loiseau H. 2004. Genetics and cytogenetics of multiple myeloma: A workshop report. Cancer Res 64:1546-1558.
16. Forus A, Weghuis DO, Smeets D, Fodstad O, Myklebost O, Geurts van KA. 1995. Comparative genomic hybridization analysis of human sarcomas: II. Identification of novel amplicons at 6p and 17p in osteosarcomas. Genes Chromosomes Cancer 14:15-21.
17. Fruhwald MC, O'Dorisio MS, Dai Z, Rush LJ, Krahe R, Smiraglia DJ, Pietsch T, Elsea SH, Plass C. 2001. Aberrant hypermethylation of the major breakpoint cluster region in 17pH.2 in medulloblastomas but not supratentorial PNETs. Genes Chromosomes Cancer 30:38-47.
18. Grignani F, De MS, Nervi C, Tomassoni L, Gelmetti V, Cioce M, Fanelli M, Ruthardt M, Ferrara FF, Zamir I, Seiser C, Grignani F, Lazar MA, Minucci S, Pelicci PG. 1998. Fusion proteins of the retinoic acid receptor-alpha recruit histone deacetylase in promyelocytic leukaemia. Nature 391:815-818.
19. Henriksen J, Aagesen TH, Maelandsmo GM, Lothe RA, Myklebost O, Forus A. 2003. Amplification and overexpression of COPS3 in osteosarcomas potentially target TP53 for proteasome-mediated degradation. Oncogene 22:5358-5361.
20. Hulsebos TJ, Bijleveld EH, Oskam NT, Westerveld A, Leenstra S, Hogendoorn PC, Bras J. 1997. Malignant astrocytoma-derived region of common amplification in chromosomal band 17p12 is frequently amplified in high-grade osteosarcomas. Genes Chromosomes Cancer 18:279-285.
21. Jepsen K, Hermanson O, Onami TM, Gleiberman AS, Lunyak V, McEvilly RJ, Kurokawa R, Kumar V, Liu F, Seto E, Hedrick SM, Mandel G, Glass CK, Rose DW, Rosenfeld MG. 2000. Combinatorial roles of the nuclear receptor corepressor in transcription and development. Cell 102:753-763.
22. Kuehl WM, Bergsagel PL. 2002. Multiple myeloma: Evolving genetic events and host interactions. Nat Rev Cancer 2:175-187.
23. Kyle RA, Rajkumar SV. 2004. Multiple myeloma. N Engl J Med 351:1860-1873.
24. Largo C, Alvarez S, Saez B, Blesa D, Martin-Subero JI, Gonzalez-Garcia I, Brieva JA, Dopazo J, Siebert R, Calasanz MJ, Cigudosa JC. 2006. Identification of overexpressed genes in frequently gained/amplified chromosome regions in multiple myeloma. Haematologica 91:184-191.
25. Larramendy ML, Tarkkanen M, Blomqvist C, Virolainen M, Wiklund T, sko-Seljavaara S, Elomaa I, Knuutila S. 1997a. Comparative genomic hybridization of malignant fibrous histiocytoma reveals a novel prognostic marker. Am J Pathol 151:1153-1161.
26. Larramendy ML, Tarkkanen M, Valle J, Kivioja AH, Ervasti H, Karaharju E, Salmivalli T, Elomaa I, Knuutila S. 1997b. Gains, losses, and amplifications of DNA sequences evaluated by comparative genomic hybridization in chondrosarcomas. Am J Pathol 150:685-691.
27. Li JN, Mahmoud MA, Han WF, Ripple M, Pizer ES. 2000. Sterol regulatory element-binding protein-1 participates in the regulation of fatty acid synthase expression in colorectal neoplasia. Exp Cell Res 261:159-165.
28. Livingstone LR, White A, Sprouse J, Livanos E, Jacks T, Tlsty TD. 1992. Altered cell cycle arrest and gene amplification potential accompany loss of wild-type p53. Cell 70:923-935.
29. Lombardi L, Poretti G, Mattioli M, Fabris S, Agnelli L, Bicciato S, Kwee I, Rinaldi A, Ronchetti D, Verdelli D, Lambertenghi-Deliliers G, Bertoni F, Neri A. 2007. Molecular characterization of human multiple myeloma cell lines by integrative genomics: Insights into the biology of the disease. Genes Chromosomes Cancer 46:226-238.
30. Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422.
31. Mattioli M, Agnelli L, Fabris S, Baldini L, Morabito F, Bicciato S, Verdelli D, Intini D, Nobili L, Cro L, Pruneri G, Callea V, Stelitano C, Maiolo AT, Lombardi L, Neri A. 2005. Gene expression profiling of plasma cell dyscrasias reveals molecular patterns associated with distinct IGH translocations in multiple myeloma. Oncogene 24:2461-2473.
32. Meza-Zepeda LA, Kresse SH, Barragan-Polania AH, Bjerkehagen B, Ohnstad HO, Namlos HM, Wang J, Kristiansen BE, Myklebost O. 2006. Array comparative genomic hybridization reveals distinct DNA copy number differences between gastrointestinal stromal tumors and leiomyosarcomas. Cancer Res 66:8984-8993.
33. Moreaux J, Cremer FW, Reme T, Raab M, Mahtouk K, Kaukel P, Pantesco V, De VJ, Jourdan E, Jauch A, Legouffe E, Moos M, Fiol G, Goldschmidt H, Rossi JF, Hose D, Klein B. 2005. The level of TACI gene expression in myeloma cells is associated with a signature of microenvironment dependence versus a plasmablastic signature. Blood 106:1021-1030.
34. Neri A, Baldini L, Trecca D, Cro L, Polli E, Maiolo AT. 1993. p53 gene mutations in multiple myeloma are associated with advanced forms of malignancy. Blood 81:128-135.
35. Novak AJ, Darce JR, Arendt BK, Harder B, Henderson K, Kindsvogel W, Gross JA, Greipp PR, Jelinek DF 2004. Expression of BCMA, TACI, and BAFF-R in multiple myeloma: A mechanism for growth and survival. Blood 103:689-694.
36. Peng B, Hodge DR, Thomas SB, Cherry JM, Munroe DJ, Pompeia C, Xiao W, Farrar WL. 2005. Epigenetic silencing of the human nucleotide excision repair gene, hHR23B, in interleukin-6-responsive multiple myeloma KAS-6/1 cells. J Biol Chem 280:4182-4187.
37. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. 1992. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300.
38. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO. 1999. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46.
39. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84-87.
40. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. 2007. Characterization of Potocki-Lupski syndrome (dup(17) (p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633-649.
41. Squire JA, Pei J, Marrano P, Beheshti B, Bayani J, Lim G, Moldovan L, Zielenska M. 2003. High-resolution mapping of amplifications and deletions in pediatric osteosarcoma by use of CGH analysis of cDNA microarrays. Genes Chromosomes Cancer 38:215-225.
42. Sumegi J, Hedberg T, Bjorkholm M, Godai T, Mellstedt H, Nilsson MG, Perlman C, Klein G. 1985. Amplification of the c-myc oncogene in human plasma-cell leukemia. Int J Cancer 36:367-371.
43. Tarkkanen M, Karhu R, Kallioniemi A, Elomaa I, Kivioja AH, Nevalainen J, Bohling T, Karaharju E, Hyytinen E, Knuutila S. 1995. Gains and losses of DNA sequences in osteosarcomas by comparative genomic hybridization. Cancer Res 55:1334-1338.
44. van DM, Cornelissen PW, Redeker S, Tarkkanen M, Knuutila S, Hogendoorn PC, Westerveld A, Gomes I, Bras J, Hulsebos TJ. 2002. Amplification of 17p11.2 approximately p12, including PMP22, TOP3A, and MAPK7, in high-grade osteosarcoma. Cancer Genet Cytogenet 139:91-96.
45. van DM, Hulsebos TJ. 2004. Amplification and overexpression of genes in 17p11.2 ∼ p12 in osteosarcoma. Cancer Genet Cytogenet 153:77-80.
46. Walker BA, Leone PE, Jenner MW, Li C, Gonzalez D, Johnson DC, Ross FM, Davies FE, Morgan GJ. 2006. Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma. Blood 108:1733-1743.
47. Weber RG, Scheer M, Born IA, Joos S, Cobbers JM, Hofele C, Reifenberger G, Zoller JE, Lichter P. 1998. Recurrent chromosomal imbalances detected in biopsy material from oral premalignant and malignant lesions by combined tissue microdissection, universal DNA amplification, and comparative genomic hybridization. Am J Pathol 153:295-303.
48. Yan T, Wunder JS, Gokgoz N, Gill M, Eskandarian S, Parkes RK, Bull SB, Bell RS, Andrulis IL. 2007. COPS3 amplification and clinical outcome in osteosarcoma. Cancer 109:1870-1876.
49. Zhan F, Hardin J, Kordsmeier B, Bumm K, Zheng M, Tian E, Sanderson R, Yang Y, Wilson C, Zangari M, Anaissie E, Morris C, Muwalla F, van RF, Fassas A, Crowley J, Tricot G, Barlogie B, Shaughnessy J Jr. 2002. Global gene expression profiling of multiple myeloma, monoclonal gammopathy of undetermined significance, and normal bone marrow plasma cells. Blood 99:1745-1757.
50. Zhan F, Huang Y, Colla S, Stewart JP, Hanamura I, Gupta S, Epstein J, Yaccoby S, Sawyer J, Burington B, Anaissie E, Hollmig K, Pineda-Roman M, Tricot G, van RF, Walker R, Zangari M, Crowley J, Barlogie B, Shaughnessy JD Jr. 2006. The molecular classification of multiple myeloma. Blood 108:2020-2028.