Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors

Genes Chromosomes and Cancer

Volumn 48, Issue 11, 2009, Pages 993-1001

  Trombetta, Domenico ^a,b   Mertens, Fredrik ^b   Lonoce, Angelo ^a   D'Addabbo, Pietro ^a   Rennstam, Karin ^b   Mandahl, Nils ^b   Storlazzi, Clelia Tiziana ^a  

^a UNIVERSITY OF BARI   (Italy)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; CYCLIN DEPENDENT KINASE 4; PROTEIN TSPAN 31; UNCLASSIFIED DRUG;

AMPLICON; ARTICLE; ATYPICAL LIPOMATOUS TUMOR; CENTROMERE; CHROMOSOME 12Q; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER MODEL; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENE STRUCTURE; GENE TARGETING; GENOMICS; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RING CHROMOSOME; SOFT TISSUE TUMOR;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LIPOMA; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRODUCIBILITY OF RESULTS; RING CHROMOSOMES;

EID: 70349318335     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20700     Document Type: Article

References (58)

1. Barker PE. 1982. Double minutes in human tumor cells. Cancer Genet Cytogenet 5:81-94.
2. Bea S, Salaverria I, Armengol L, Pinyol M, Fernandez V, Hartmann EM, Jares P, Amador V, Hernandez L, Navarro A, Otto G, Rosenwald A, Estivill X, Campo E. 2009. Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. Blood 113:3059-3069.
3. Bystritskiy AA, Razin SV. 2004. Breakpoint clusters: Reason or consequence? Crit Rev Eukaryot Gene Exp 14:65-77.
4. Carroll SM, DeRose ML, Gaudray P, Moore CM, Needham-Vandevanter DR, Von Hoff DD, Wahl GM. 1988. Double minute chromosomes can be produced from precursors derived from a chromosomal deletion. Mol Cell Biol 8:1525-1533. (Pubitemid 18105202)
5. Chisholm KM, Goff BA, Garcia R, King MC, Swisher EM. 2008. Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers. Cancer Genet Cytogenet 183:41-48. (Pubitemid 351636129)
6. Coquelle A, Pipiras E, Toledo F, Buttin G, Debatisse M. 1997. Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons. Cell 89:215-225. (Pubitemid 27199894)
7. Cowell JK. 1982. Double minutes and homogeneously staining regions: gene amplification in mammalian cells. Annu Rev Genet 16:21-59.
8. Cox D, Yuncken C, Spriggs AI. 1965. Minute chromatin bodies in malignant tumours of childhood. Lancet 1:55-58.
9. Debatisse M, El Achkar E, Dutrillaux B. 2006. Common fragile sites nested at the interfaces of early and late-replicating chromosome bands: Cis acting components of the G2/M checkpoint? Cell Cycle 5:578-581.
10. Dei Tos A, Pedeutour F. 2002. Atypical lipomatous tumour/ well differentiated liposarcoma. In: Fletcher CDM, Unni KK, Mertens F, editors. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. Lyon: IARC Press, pp. 35-37.
11. El Achkar E, Gerbault-Seureau M, Muleris M, Dutrillaux B, Debatisse M. 2005. Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites. Proc Natl Acad Sci USA 102: 18069-18074. (Pubitemid 41798503)
12. Fischer U, Radermacher J, Mayer J, Mehraein Y, Meese E. 2008. Tumor hypoxia: Impact on gene amplification in glioblastoma. Int J Oncol 33:509-515.
13. Gebhart E, Bruderlein S, Tulusan AH, von Maillot K, Birkmann J. 1984. Incidence of double minutes, cytogenetic equivalents of gene amplification, in human carcinoma cells. Int J Cancer 34:369-373. (Pubitemid 14032187)
14. Gisselsson D, Höglund M, Mertens F, Johansson B, Dal Cin P, Van den Berghe H, Earnshaw WC, Mitelman F, Mandahl N. 1999. The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. Hum Genet 104:315-325. (Pubitemid 29251150)
15. Hallor KH, Staaf J, Jönsson G, Heidenblad M, Vult von Steyern F, Bauer HC, Ijszenga M, Hogendoorn PC, Mandahl N, Szuhai K. 2008. Frequent deletion of the CDKN2A locus in chordoma: Analysis of chromosomal imbalances using array comparative genomic hybridisation. Br J Cancer 98:434-442. (Pubitemid 351161241)
16. Hattinger CM, Stoico G, Michelacci F, Pasello M, Scionti I, Remondini D, Castellani GC, Fanelli M, Scotlandi K, Picci P, Serra M. 2009. Mechanisms of gene amplification and evidence of coamplification in drug-resistant human osteosarcoma cell lines. Genes Chromosomes Cancer 48:289-309.
17. Heidenblad M, Hallor KH, Staaf J, Jönsson G, Borg A, Höglund M, Mertens F, Mandahl N. 2006. Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarrays. Oncogene 25:7106-7116. (Pubitemid 44722078)
18. Hirai H, Ogawa S, Kurokawa M, Yazaki Y, Mitani K. 1999. Molecular characterization of the genomic breakpoints in a case of t(3;21)(q26;q22). Genes Chromosomes Cancer 26:92-96. (Pubitemid 29374868)
19. Holmquist GP. 1992. Chromosome bands, their chromatin flavors, and their functional features. Am J Hum Genet 51:17-37.
20. Italiano A, Bianchini L, Keslair F, Bonnafous S, Cardot-Leccia N, Coindre JM, Dumollard JM, Hofman P, Leroux A, Mainguene C, Peyrottes I, Ranchere-Vince D, Terrier P, Tran A, Gual P, Pedeutour F. 2008. HMGA2 is the partner of MDM2 in welldifferentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon. Int J Cancer 122: 2233-2241. (Pubitemid 351542325)
21. Italiano A, Maire G, Sirvent N, Nuin PA, Keslair F, Foa C, Louis C, Aurias A, Pedeutour F. 2009. Variability of origin for the neocentromeric sequences in analphoid supernumerary marker chromosomes of well-differentiated liposarcomas. Cancer Lett 273:323-330.
22. Jain A, Wang G, Vasquez KM. 2008. DNA triple helices: Biological consequences and therapeutic potential. Biochimie 90:1117-1130.
23. Jönsson G, Dahl C, Staaf J, Sandberg T, Bendahl PO, Ringnér M, Guldberg P, Borg Å. 2007. Genomic profiling of malignant melanoma using tiling-resolution arrayCGH. Oncogene 26:4738-4748. (Pubitemid 47067402)
24. Kanoe H, Nakayama T, Hosaka T, Murakami H, Yamamoto H, Nakashima Y, Tsuboyama T, Nakamura T, Ron D, Sasaki MS, Toguchida J. 1999. Characteristics of genomic breakpoints in TLS-CHOP translocations in liposarcomas suggest the involvement of Translin and topoisomerase II in the process of translocation. Oncogene 18:721-729. (Pubitemid 29080329)
25. Kobayashi C, Oda Y, Takahira T, Izumi T, Kawaguchi K, Yamamoto H, Tamiya S, Yamada T, Oda S, Tanaka K, Matsuda S, Iwamoto Y, Tsuneyoshi M. 2006. Chromosomal aberrations and microsatellite instability of malignant peripheral nerve sheath tumors: A study of 10 tumors from nine patients. Cancer Genet Cytogenet 165:98-105. (Pubitemid 43343502)
26. Kolomietz E, Meyn MS, Pandita A, Squire JA. 2002. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35:97-112. (Pubitemid 34919966)
27. Kopnin BP. 1981. Specific karyotypic alterations in colchicine-resistant cells. Cytogenet Cell Genet 30:11-14. (Pubitemid 11079832)
28. Maytin EV, Ubeda M, Lin JC, Habener JF. 2001. Stress-inducible transcription factor CHOP/gadd153 induces apoptosis in mammalian cells via p38 kinase-dependent and -independent mechanisms. Exp Cell Res 267:193-204. (Pubitemid 32635013)
29. McClintock B. 1951. Chromosome organization and genic expression. Cold Spring Harb Symp Quant Biol 16:13-47.
30. Menghi-Sartorio S, Mandahl N, Mertens F, Picci P, Knuutila S. 2001. DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes. Cytometry 46:79-84. (Pubitemid 32423457)
31. Mertens F, Panagopoulos I, Jonson T, Gisselsson D, Isaksson M, Domanski HA, Mandahl N. 2004. Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: Implications for ring chromosome formation. Cytogenet Genome Res 106:33-38. (Pubitemid 38822777)
32. Mertens F, Panagopoulos I, Mandahl N. 2009. Genomic characteristics of soft tissue sarcomas. Virchows Arch (epub ahead of print).
33. Meza-Zepeda LA, Berner JM, Henriksen J, South AP, Pedeutour F, Dahlberg AB, Godager LH, Nizetic D, Forus A, Myklebost O. 2001. Ectopic sequences from truncated HMGIC in liposarcomas are derived from various amplified chromosomal regions. Genes Chromosomes Cancer 31:264-273.
34. Micci F, Teixeira MR, Bjerkehagen B, Heim S. 2002. Characterization of supernumerary rings and giant marker chromosomes in well-differentiated lipomatous tumors by a combination of G-banding, CGH, M-FISH, and chromosome- and locus-specific FISH. Cytogenet Genome Res 97:13-19. (Pubitemid 37499873)
35. Mimori K, Druck T, Inoue H, Alder H, Berk L, Mori M, Huebner K, Croce CM. 1999. Cancer-specific chromosome alterations in the constitutive fragile region FRA3B. Proc Natl Acad Sci USA 96:7456-7461. (Pubitemid 29299683)
36. Missailidis S, Modi C, Trapani V, Laughton CA, Stevens MF. 2005. Antitumor polycyclic acridines. Part 16. Triplex DNA as a target for DNA-binding polycyclic acridine derivatives. Oncol Res 15:95-105.
37. Mitelman Database of Chromosome Aberrations in Cancer. 2009. Mitelman F, Johansson B, Mertens F, editors. Available at: http://cgap.nci.nih.gov/ Chromosomes/Mitelman
38. Nilsson M, Meza-Zepeda LA, Mertens F, Forus A, Myklebost O, Mandahl N. 2004. Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomas. Int J Cancer 109:363-369.
39. Paulson TG, Almasan A, Brody LL, Wahl GM. 1998. Gene ampli- fication in a p53-deficient cell line requires cell cycle progression under conditions that generate DNA breakage. Mol Cell Biol 18:3089-3100. (Pubitemid 28183477)
40. Pedeutour F, Forus A, Coindre JM, Berner JM, Nicolo G, Michiels JF, Terrier P, Ranchere-Vince D, Collin F, Myklebost O, Turc-Carel C. 1999. Structure of the supernumerary ring and giant rod chromosomes in adipose tissue tumors. Genes Chromosomes Cancer 24:30-41. (Pubitemid 28544460)
41. Pedeutour F, Suijkerbuijk RF, Forus A, Van Gaal J, Van de Klundert W, Coindre JM, Nicolo G, Collin F, Van Haelst U, Huffermann K. 1994. Complex composition and co-amplification of SAS and MDM2 in ring and giant rod marker chromosomes in well-differentiated liposarcoma. Genes Chromosomes Cancer 10:85-94. (Pubitemid 24155978)
42. Persson F, Winnes M, Andren Y, Wedell B, Dahlenfors R, Asp J, Mark J, Enlund F, Stenman G. 2008. High-resolution array CGH analysis of salivary gland tumors reveals fusion and ampli- fication of the FGFR1 and PLAG1 genes in ring chromosomes. Oncogene 27:3072-3080. (Pubitemid 351668008)
43. Rosai J, Akerman M, Dal Cin P, DeWever I, Fletcher CDM, Mandahl N, Mertens F, Mitelman F, Rydholm A, Sciot R, Tallini G, Van Den Berghe H, Van De Ven W, Vanni R, Willen H. 1996. Combined morphologic and karyotypic study of 59 atypical lipomatous tumors. Evaluation of their relationship and differential diagnosis with other adipose tissue tumors (a report of the CHAMP Study Group). Am J Surg Pathol 20:1182-1189. (Pubitemid 26336841)
44. Saal LH, Troein C, Vallon-Christersson J, Gruvberger S, Borg A, Peterson C. 2002. Bio Array Software Environment (BASE): A platform for comprehensive management and analysis of microarray data. Genome Biol 3: SOFTWARE0003.
45. Saglio G, Storlazzi CT, Giugliano E, Surace C, Anelli L, Rege- Cambrin G, Zagaria A, Jimenez Velasco A, Heiniger A, Scaravaglio P, Gomez AT, Gomez JR, Archidiacono N, Banfi S, Rocchi M. 2002. A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation. Proc Natl Acad Sci USA 99:9882-9887. (Pubitemid 34831141)
46. Sawinska M, Schmitt JG, Sagulenko E, Westermann F, Schwab M, Savelyeva L. 2007. Novel aphidicolin-inducible common fragile site FRA9G maps to 9p22.2, within the C9orf39 gene. Genes Chromosomes Cancer 46:991-999. (Pubitemid 47502839)
47. Schwab M. 1998. Amplification of oncogenes in human cancer cells. Bioessays 20:473-479. (Pubitemid 28320609)
48. Sirvent N, Maire G, Pedeutour F. 2003. Genetics of dermatofibrosarcoma protuberans family of tumors: From ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer 37:1-19. (Pubitemid 36417917)
49. Stankiewicz P, Lupski JR. 2006. The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn 1:1-16.
50. Storlazzi CT, Fioretos T, Surace C, Lonoce A, Mastrorilli A, Strombeck B, D'Addabbo P, Iacovelli F, Minervini C, Aventin A, Dastugue N, Fonatsch C, Hagemeijer A, Jotterand M, Mühlematter D, Lafage-Pochitaloff M, Nguyen-Khac F, Schoch C, Slovak ML, Smith A, Solè F, Van Roy N, Johansson B, Rocchi M. 2006. MYC-containing double minutes in hematologic malignancies: Evidence in favor of the episome model and exclusion of MYC as the target gene. Hum Mol Genet 15:933-942. (Pubitemid 43338234)
51. Surace C, Pedeutour F, Trombetta D, Burel-Vandenbos F, Rocchi M, Storlazzi CT. 2008. Episomal amplification of MYCN in a case of medulloblastoma. Virchows Arch 452:491-497.
52. Thomas NS, Maloney V, Bryant V, Huang S, Brewer C, Lachlan K, Jacobs PA. 2009. Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4). Hum Genet 125:181-188.
53. Umanskaia ON, Bystritskii AA, Razin SV. 2005. [Chromosomal rearrangements breakpoints clusterization: Is the clonal selection involved]. Mol Biol (Mosk) 39:355-363.
54. Uryu H, Oda Y, Shiratsuchi H, Oda S, Yamamoto H, Komune S, Tsuneyoshi M. 2005. Microsatellite instability and proliferating activity in sinonasal carcinoma: Molecular genetic and immunohistochemical comparison with oral squamous cell carcinoma. Oncol Rep 14:1133-1142.
55. Vogt N, Lefevre SH, Apiou F, Dutrillaux AM, Cor A, Leuraud P, Poupon MF, Dutrillaux B, Debatisse M, Malfoy B. 2004. Molecular structure of double-minute chromosomes bearing ampli- fied copies of the epidermal growth factor receptor gene in gliomas. Proc Natl Acad Sci USA 101:11368-11373. (Pubitemid 39038353)
56. Wei Y, Sun M, Nilsson G, Dwight T, Xie Y, Wang J, Hou Y, Larsson O, Larsson C, Zhu X. 2003. Characteristic sequence motifs located at the genomic breakpoints of the translocation t(X;18) in synovial sarcomas. Oncogene 22:2215-2222. (Pubitemid 36539571)
57. Wyatt RT, Rudders RA, Zelenetz A, Delellis RA, Krontiris TG. 1992. BCL2 oncogene translocation is mediated by a chi-like consensus. J Exp Med 175:1575-1588.
58. Xiang H, Wang J, Hisaoka M, Zhu X. 2008. Characteristic sequence motifs located at the genomic breakpoints of the translocation t(12;16) and t(12;22) in myxoid liposarcoma. Pathology 40:547-552.