Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types

American Journal of Pathology

Volumn 148, Issue 4, 1996, Pages 1125-1138

  Thorner, Paul ^a   Squire, Jeremy ^a   Chilton MacNeill, Sue ^a   Marrano, Paula ^a   Bayani, Jane ^a   Malkin, David ^a   Greenberg, Mark ^a   Lorenzana, Adonis ^a   Zielenska, Maria ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION 11; CYTOGENETICS; DOUBLE MINUTE CHROMOSOME; EWING SARCOMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; HUMAN TISSUE; HYBRIDIZATION; MALE; NEUROECTODERM TUMOR; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; SOUTHERN BLOTTING;

ABDOMINAL NEOPLASMS; BONE NEOPLASMS; BRAIN NEOPLASMS; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; HUMANS; INFANT; MALE; NEUROECTODERMAL TUMORS, PRIMITIVE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEIN C-FLI-1; PROTO-ONCOGENE PROTEINS; SARCOMA, EWING'S; TRANS-ACTIVATORS; TRANSCRIPTION, GENETIC; TUMOR MARKERS, BIOLOGICAL;

EID: 0029871098     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Douglass EC, Valentine M, Etcubanas E, Parham D, Webber BL, Houghton PJ, Green AA. A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenet Cell Genet 1987, 45 148-155
2. Turc-Carel C, Aurias A, Mugneret F, Lizard S, Sidaner I, Volk C, Thiery JP, Olschwang S, Philip I, Berger MP, Philip T, Lenoir GM, Mazabraud A: Chromosomes in Ewing's sarcoma an evaluation of 85 cases and remarkable consistency of t(11;22) (q24;q12) Cancer Genet Cytogenet 1988, 32:229-238
3. Stephenson CF, Bridge JA, Sandberg AA. Cytogenetic and pathologic aspects of Ewing's sarcoma and neuroectodermal tumors. Hum Pathol 1992, 23 1270-1277
4. Zucman J, Delattre O, Desmaze C, Plougastel B, Joubert I, Melot T, Peter M, De Jong P, Rouleau G, Aurias A, Thomas G. Cloning and characterization of the Ewing's sarcoma and peripheral neuroepithelioma t(11,22) translocation breakpoints Genes Chromosomes & Cancer 1992, 5:271-277
5. Biegel JA, Conrad K, Brooks JJ: Translocation (11;22) (p13;q12). primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes & Cancer 1993, 7:119-121
6. Ladanyi M, Gerald W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 1994, 54 2837-2840
7. Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G, Aunas A, Thomas G: Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 1992, 359:162-165
8. Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher RJ, Emanuel BS, Rovera G, Barr FG: Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet 1993, 5:230-235
9. Sorensen PHB, Liu XF, Delattre O, Rowland JM, Biggs CA, Thomas G, Triche TJ: Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood. Diagn Mol Pathol 1993, 2:147-157
10. Dehner LP. Neuroepithelioma (primitive neuroectodermal tumor), and Ewing's sarcoma' at least a partial consensus. Arch Pathol Lab Med 1994, 118:606-607
11. Dehner LP: Primitive neuroectodermal tumor and Ewing's sarcoma Am J Surg Pathol 1993, 17 1-13
12. Driman D, Thorner PS, Greenberg ML, Chilton-MacNeill S, Squire J. MYCN gene amplification in rhabdomyosarcoma. Cancer 1994, 73:2231-2237
13. Kohl NE, Gee CE, Alt FW. Activated expression of the N-myc gene in human neuroblastomas and related tumors Science 1984, 226:1335-1337
14. Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B: Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 1992, 358:80-83
15. Yeger H, Mor O, Pawlin G, Kaplinsky C, Shiloh Y. Importance of phenotypic and molecular characterization of a neuroepithelioma tumor cell line, NUB-20. Cancer Res 1990, 50 2794-2802
16. Mandahl N: Methods in solid tumour cytogenetics. Human Cytogenetics A Practical Approach, vol 2. Edited by DE Rooney, BH Czepulkowski Oxford, IRL Press, 1992, pp 155-186
17. Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC: High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 1990, 247:64-69
18. Selleri L, Hermanson GG, Eubanks JH, Lewis KA, Evans GA: Molecular localization of the t(11,22)(q24, q12) translocation of Ewing sarcoma by chromosomal in situ suppression hybridization. Proc Natl Acad Sci USA 1991, 88 887-891
19. Bayani J, Thorner P, Zielenska M, Pandita A, Beatty B, Squire JA: Application of a simplified comparative genomic hybridization technique to screen for gene amplification m pediatric solid tumors Pediatr Pathol Lab Med 1995, 15 831-844
20. Kallioniemi A, Kallioniemi O-P, Sudar D, Rutovitz D, Gray JW, Waldman FM, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors Science 1992, 258:818-821
21. Schröck E, Thiel G, Lozanova T, du Manoir S, Meffert M-C, Jauch A, Speicher MR, Nürnberg P, Vogel S, Jänisch W, Donis-Keller H, Ried T, Witkowski R, Cremer T: Comparative genomic hybridization of human malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses. Am J Pathol 1994, 144:1203-1218
22. Delattre O, Zucman J, Plougastel B, Melot T, Garau XS, Zucker J-M, Lenoir GM, Ambros PF. Sheer D, Turc-Carel C, Triche TJ, Aurias A, Thomas G The Ewing family of tumors, a subgroup of small round-cell tumors defined by specific chimeric transcripts. N Engl J Med 1994, 331:294-299
23. May WA, Lessnick SL, Braun BS, Klemsz M, Lewis BC, Lunsford BL, Hromas R, Denny CT. The Ewing's sarcoma OVS-FLM fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-7 Mol Cell Biol 1993, 13:7393-7398
24. Zucman J, Meloi T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker JM, Triche TJ, Sheer D, Turc-Carel C, Ambros P, Combaret V, Lenoir G, Aurias A, Thomas G, Delattre O. Combinatorial generation of variable fusion proteins in the Ewing family of tumours EMBO J 1993, 12:4481-4487
25. Whang-Peng J, Knutsen T, Theil K, Horowitz ME, Triche T: Cytogenetic studies in subgroups of rhabdomyosarcoma Genes Chromosomes & Cancer 1992, 5:299-310
26. Sorensen PHB, Shimada H, LIU XF, Lim JF, Thomas G, Triche TJ Biphenotypic sarcomas with myogenic and neural differentiation express the Ewing's sarcoma EWS/FLI-1 fusion gene Cancer Res 1995, 55:1385-1392
27. Kargioglu Z, Someren A, Mathes SJ: Ectomesenchymoma a malignant tumor of migratory neural crest (ectomesenchyme) remnants showing ganglionic, Schwannian, melanocytic and rhabdomyoblastic differentiation. Cancer 1977, 39:2486-2496
28. Scrable H, Witte D, Shimada H, Seemayer T, Wang-Wuu S, Soukup S, Koufos A, Houghton P, Lampkin B, Cavanee W Molecular differential pathology of rhabdomyosarcoma Genes Chromosomes & Cancer 1989, 1:23-35
29. Downing JR, Khandekar A, Shurtleff SA, Head DR, Parham DM, Webber BL, Pappo AS, Hulshof MG, Conn WP, Shapiro DN. Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma Am J Pathol 1995, 146:626-634
30. Gerald WL, Miller HK, Battifora H, Miettinen M. Silva EG, Rosai J. Intra-abdominal desmoplastic small round cell tumor: report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. Am J Surg Pathol 1991, 15:499-513
31. Yeoh G, Russell P, Wills EJ, Fleming S: Intra-abdominal desmoplastic small round cell tumor Pathology 1993, 25:197-202
32. Kohl NE, Kanda N, Schreck RR, Bruns G, Latt S, Gilbert F, Alt F Transposition and amplification of oncogene related sequences in human neuroblastoma. Cell 1983, 35:359-367
33. Schwab M, Alitalo K, Klempnauer K, Varmus HE, Bishop JM, Gilbert F, Brodeur G, Goldstein M, Trent J: Amplified DNA with limited homology to myc cellular oncogene is shared by neuroblastoma cell lines and a neuroblastoma tumour. Nature 1983, 305: 245-248
34. Khatib ZA, Matushime H, Valentine M, Shapiro DH, Sherr J, Look AT. Coamplification of the CDK4 gene with MDM2 and GLI in human sarcomas Cancer Res 1993, 53:5535-5541
35. Kovar H, Auinger A, Jug G, Aryee D, Zoubek A, Slazer-Kuntschik M, Gadner H. Narrow spectrum of infrequent p53 mutations and absence of MDM2 amplification in Ewing tumours Oncogene 1993, 8:2683-2690
36. Waber PG, Chen J, Nisen PD: Infrequency of MDM2 gene amplification in pediatric solid tumors and lack of association with p53 mutations in adult squamous cell carcinomas Cancer Res 1993, 53:6028-6030
37. Keleti J, Abaza M, Ouezado M, Raffeld M, Tsokos M. MDM2-gene expression in cell lines derived from childhood rhabdomyosarcomas and peripheral neuroectodermal tumors. Lab Invest 1994, 70:146A
38. Ladanyi M, Lewis R, Jhanwar SC, Gerald W, Huvos AG, Healey JH. MDM2 and CDK4 amplification in Ewing's sarcoma. J Pathol 1995, 175 211-217
39. Meltzer PS, Jankowski SA, Dal Cin P, Sandberg AA, Paz IB, Coccia MA: Identification and cloning of a novel amplified DNA sequence in human malignant fibrous histiocytoma derived from a region of chromosome 12 frequently rearranged in soft tissue tumors Cell Growth Differ 1991, 2:495-501
40. Arheden K, Ronne M, Mandahl N, Heim S, Kinzler KW, Vogelstein B, Mitelman F: In situ hybridization localizes the human putative oncogene GLI to chromosome subbands 12q13-14 Hum Genet 1989, 82:1-2
41. Davis RJ, D'Cruz CM, Lovell MA, Siegel JA, Barr FG. Fusion of PAX7 to FKHR by the variant t(1,13) (p36, q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 1994, 54:2869-2872
42. Ambros IM, Ambros PF, Strehl S, Kovar H, Gadner H, Salzer-Kuntschik M: MIC2 is a specific marker for Ewing's sarcoma and peripheral primitive neuroectodermal tumors. Cancer 1991 67:1886-1893
43. Ladanyi M, Lewis R, Garin-Chesa P, Rettig WJ, Huvos AG, Healey JH, Jhanwar SC EWS rearrangement in Ewing's sarcoma and peripheral neuroectodermal tumor- molecular detection and correlation with cytogenetic analysis and MIC2 expression. Diagn Mol Pathol 1993, 2:141-146
44. Swanson PE, Wick MR, Garin-Chesa P, Dehner LP: Polyphenotypic small round cell tumors: an immunohistochemical comparison of desmoplastic and non-desmoplastic variants. Lab Invest 1994, 70:11A
45. Barr FG, Chatten J, D'Cruz CM, Wilson AE, Nauta LE, Nycum LM, Biegel JA, Womer RB: Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995, 273:553-557
46. Sorensen PHB, Tirabosco R, Xian XF, Lim JS, Maurer HS, Triche TJ: Molecular studies of non-embryonal rhabdomyosarcoma: evidence for genetic heterogeneity. Lab Invest 1995, 72:145A