Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): Desmoplastic small round-cell tumor and its variants

Journal of Clinical Oncology

Volumn 16, Issue 9, 1998, Pages 3028-3036

  Gerald, William L ^a   Ladanyi, Marc ^b   De Alava, Enrique ^b   Cuatrecasas, Miriam ^b   Kushner, Brian H ^b   LaQuaglia, Michael P ^b   Rosai, Juan ^b  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN; DNA; EPITHELIAL MEMBRANE ANTIGEN; KERATIN; NEURON SPECIFIC ENOLASE; PROTEIN P53; RNA; VIMENTIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 11; DNA STRAND BREAKAGE; FEMALE; GENE FUSION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; TUMOR;

EID: 0031688631     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.1998.16.9.3028     Document Type: Article

References (54)

1. Triche TJ: Pathology of pediatric malignancies, in Pizzo PA, Poplack DG (eds): Principles and Practice of Pediatric Oncology (ed 2). Philadelphia, PA, Lippincott, 1993, pp 115-152
2. Barr FG, Chatten J, D'Cruz C, et al: Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue tumors. JAMA 273:553-557, 1995
3. De Alava E, Ladanyi M, Rosai J, et al: Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by RT-PCR. Am J Pathol 147:1584-1591, 1995
4. Aurias A, Rimbaut C, Buffe C, et al: Chromosomal translocations in Ewing's sarcoma. N Engl J Med 309:496-497, 1983
5. Turc-Carel C, Philip I, Berger MP, et al: Chromosomal translocations in Ewing's sarcoma. N Engl J Med 309:497-498, 1983
6. Whang-Peng J, Triche TJ, Knutsen T, et al: Chromosomal translocations in peripheral neuroepithelioma. N Engl J Med 311:584-585, 1984
7. Turc-Carel C, Aurias A, Mugneret F, et al: Chromosomes in Ewing's sarcoma. An evaluation of 85 cases and remarkable consistency of t(11;22)(q24;q12). Cancer Genet Cytogenet 32:229-238, 1988
8. Turc-Carel C, Lizard-Nacol S, Justrabo E, et al: Consistent chromosomal translocation in alveolar rhabdomyosarcoma. Cancer Genet Cytogenet 19:361-362, 1986
9. Douglass EC, Valentine M, Etcubanas E, et al: A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenet Cell Genet 45:148-155, 1987
10. Wang-Wu S, Soukup S, Ballard E, et al: Chromosomal analysis of sixteen human rhabdomyosarcomas. Cancer Res 48:983-987, 1988
11. Gerald WL, Rosai J: Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol 9:177-183, 1989
12. Gerald WL, Miller HK, Battifora H, et al: Intraabdominal 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 15:499-513, 1991
13. Gerald WL, Rosai J: Desmoplastic small cell tumor with multi-phenotypic differentiation. Zentrabl Pathol 139:141-152, 1993
14. Ordonez N, El-Naggar A, Ro J, et al: Intra-abdominal desmoplastic small cell tumor: A light microscopic, immunocytochemical, ultrastructural, and flow cytometric study. Hum Pathol 24:850-865, 1993
15. Sawyer JR, Tryka AF, Lewis JM: A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor. Am J Surg Pathol 16:411-416, 1992
16. Shen WP, Towne B, Zadeh TM: Cytogenetic abnormalities in an intraabdominal desmoplastic small cell tumor. Cancer Genet Cytogenet 64:189-191, 1992
17. Biegel JA, Conard K, Brooks JJ: Translocation (11;22)(p.13; q12): Primary change in intraabdominal desmoplastic small round cell tumor. Genes Chromosom Cancer 7:119-121, 1993
18. Rodriguez E, Sreekantaiah C, Gerald WL, et al: A recurring translocation, t(11;22)(p13;q11.2), characterizes intraabdominal desmoplastic small round cell tumors. Cancer Genet Cytogenet 69:17-21, 1993
19. Delattre O, Zucman J, Plongastel B, et al: Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 359:162-165, 1992
20. Zucman J, Delattre O, Desmaze C, et al: EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nature Genet 4:341-345, 1993
21. Plougastel B, Zucman J, Peter M, et al: Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation. Genomics 18:609-615, 1993
22. Labelle Y, Zucman F, Stenman G, et al: Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. Hum Mol Genet 4:2219-2226, 1995
23. Clark J, Benjamin H, Gill S, et al: Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene 12:229-235, 1996
24. Panagopoulos I, Hoglund M, Mertens F, et al: Fusion of EWS and CHOP genes in myxoid liposarcoma. Oncogene 12:489-494, 1996
25. Call KM, Glaser T, Ito CY, et al: Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520, 1990
26. Gessler M, Pustka A, Cavenee W, et al: Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778, 1990
27. Bonetta L, Kuehn SE, Huang A, et al: Wilms' tumor locus on 11p13 defined by multiple CpG island-associated transcripts. Science 250:994-997, 1990
28. Ladanyi M, Gerald WL: Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 54:2837-2840, 1994
29. Gerald W, Rosai J, Ladanyi M: Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. Proc Natl Acad Sci USA 92:1028-1032, 1995
30. Parkash V, Gerald W, Parma A, et al: Desmoplastic small cell tumor of the pleura. Am J Surg Pathol 19:659-665, 1995
31. Tison V, Cerasoli S, Morigi F, et al: Intracranial desmoplastic small cell tumor. Am J Surg Pathol 20:112-117, 1996
32. Hsu HM, Raine L, Fanger H: Use of avidin-biotin peroxidase complex (ABC) in immunoperoxidase techniques: A comparison between ABC and unlabeled (PAP) procedures. J Histochem Cytochem 29:577-580, 1981
33. Kretschmar C, Colbach C, Bhan I, et al: Desmoplastic small cell tumor: A report of three cases and a review of the literature. J Pediatr Hematol Oncol 18:293-298, 1996
34. Kushner B, LaQuaglia M, Wollner N, et al: Desmoplastic small round cell tumor: Prolonged progression-free survival with aggressive multimodality therapy. J Clin Oncol 14:1526-1531, 1996
35. Schwarz R, Gerald W, Kushner B, et al: Desmoplastic small round cell tumors: Prognostic indicators and results of surgical management. Ann Surg Oncol (in press)
36. Zucman J, Melot T, Desmaze C, et al: Combinatorial generation of variable fusion proteins in the Ewing family of tumours. EMBO J 12:4481-4487, 1993
37. Berlotti A, Lutz Y, Heard DJ, et al: hTAF(II)68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II. Embo J 15:5022-5031, 1996
38. May WA, Gishizky ML, Lessnick SL, et al: Ewing sarcoma 11;22 translocation produces a chimeric transcription factor that requires the DNA-binding domain encoded by FL11 for transformation. Proc Natl Acad Sci USA 90:5752-5756, 1993
39. May WA, Lessnick SL, Braun BS, et al: The Ewing's sarcoma EWS/FLI-1 fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-1. Mol Cell Biol 13:7393-7398, 1993
40. Ohno T, Rao VN, Reddy ESP: EWS/Fli-1 Chimeric protein is a transcriptional activator. Cancer Res 53:5859-5863, 1994
41. Haber DA, Buckler AJ: WT1: A novel tumor suppressor gene inactivated in Wilms' tumor. New Biologist 4:97-106, 1992
42. Haber DA, Housman DE: Role of the WT1 gene in Wilms' tumour. Cancer Surv 12:105-117, 1992
43. Kreidberg JA, Sariola H, Loring JM, et al: WT-1 is required for early kidney development. Cell 74:679-691, 1993
44. Pritchard-Jones K, Fleming S, Davidson D, et al: The candidate Wilm's tumour gene is involved in genitourinary development. Nature 346:194-197, 1990
45. Ye Y, Raychaudhuri B, Gurney A, et al: Regulation of WT1 by phosphorylation: Inhibition of DNA binding, alteration of transcriptional activity and cellular translocation. EMBO J 15:5606-5615, 1996
46. Haber DA, Sohn RL, Buckler AJ, et al: Alternative splicing and genomic structure of the Wilms tumor gene WT1. Proc Natl Acad Sci USA 88:9618-9622, 1991
47. Park S, Tomlinson G, Nisen P, et al: Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. Cancer Res 53:4757-4760, 1993
48. Haber DA, Park S, Maheswaran S, et al: WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant. Science 262:2057-2059, 1993
49. Maheswaran S, Park S, Bernard A, et al: Physical and functional interaction between WT1 and p53 proteins. Proc Natl Acad Sci USA 90:5100-5104, 1993
50. Park S, Schalling M, Bernard A, et al: The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma. Nature Genet 4:415-420, 1993
51. Englert C, Hou X, Maheswaran S, et al: WT1 suppresses synthesis of the epidermal growth factor receptor and induces apoptosis. EMBO J 14:4662-4675, 1995
52. Pritchard-Jones K, Fleming S: Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumor: Implications for tumour histogenesis. Oncogene 6:2211-2220, 1991
53. Sharma M, Yang X, Bowman M, et al: Molecular cloning of rat Wilms' tumor complementary DNA and a study of messenger RNA expression in the urogenital system and the brain. Cancer Res 52:6407-6412, 1992
54. Ramani P, Cowell J: The expression pattern of Wilms' tumour gene (WT1) product in normal tissues and paediatric renal tumours. J Pathol 179:162-168, 1996