Molecular genetics and pathogenesis of rhabdomyosarcoma

Journal of Pediatric Hematology/Oncology

Volumn 19, Issue 6, 1997, Pages 483-491

  Barr, Frederic G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL CELL; CHILDHOOD CANCER; CHROMOSOME 11P; CHROMOSOME TRANSLOCATION; CYTOGENETICS; GENE MUTATION; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW; RHABDOMYOSARCOMA; SOFT TISSUE TUMOR; TUMOR SUPPRESSOR GENE;

HUMANS; MOLECULAR BIOLOGY; RHABDOMYOSARCOMA;

EID: 0031406578     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-199711000-00001     Document Type: Review

References (86)

1. Raney RB, Hays DM, Tefft M, et al. Rhabdomyosarcoma and the undifferentiated sarcomas. In: Pizzo PA, Poplack DG, (eds). Principles and Practice of Pediatric Oncology. Philadelphia: JB Lippincott, 1993;769-94.
2. Tsokos M, Webber BL, Parham DM, et al. Rhabdomyosarcoma - a new classification scheme related to prognosis. Arch Pathol Lab Med 1992;116:847-55.
3. Tsokos M. The diagnosis and classification of childhood rhabdomyosarcoma. Sem Diag Path 1994;11:26-38.
4. Junien C. Beckwith-Wiedemann syndrome, tumourigenesis and imprinting. Curr Op Genet Dev 1992:2:431-8.
5. Malkin D. p53 and the Li-Fraumeni Syndrome. Cancer Genet Cytogenet 1993;66:83-92.
6. Hope DG, Mulvihill JJ. Malignancy in neurofibromatosis. In: Riccardi VM, Mulvihill JJ (eds). Neurofibromatosis (von Recklinghausen Disease). New York: Raven Press, 1981:33-55.
7. Turc-Carel C, Lizard-Nacol S, Justrabo E, et al. Consistent chromosomal translocation in alveolar rhabdomyosarcoma. Cancer Genet Cytogenet 1986;19:361-2.
8. Douglass EC, Valentine M, Etcubanas E, et al. A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenet Cell Genet 1987;45:148-55.
9. Wang-Wuu S, Soukup S, Ballard E, et al. Chromosomal analysis of sixteen human rhabdomyosarcomas. Cancer Res 1988;48:983-7.
10. Whang-Peng J, Knutsen T, Theil K, et al. Cytogenetic studies in subgroups of rhabdomyosarcoma. Genes Chromosomes Cancer 1992;5:299-310.
11. Biegel JA, Meek RS, Parmiter AH, et al. Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer 1991;3:483-4.
12. Douglass EC, Rowe ST, Valentine M, et al. Variant translocations of chromosome 13 in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer 1991;3:480-2.
13. Whang-Peng J, Triche TJ, Knutsen T, et al. Cytogenetic characterization of selected small round cell tumors of childhood. Cancer Genet Cytogenet 1986;21:185-208.
14. Sawyer JR, Crussi FG, Kletzel M. Pericentric inversion (2)(p15q35) in an alveolar rhabdomyosarcoma. Cancer Genet Cytogenet 1994;78:214-8.
15. Barr FG, Galili N, Holick J, et al. Rearrangement ot the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nature Genet 1993;3:113-7.
16. Galili N, Davis RJ, Fredericks WJ, et al. Fusion of a fork head domain aene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nature Genet 1993;5:230-5.
17. Shapiro DN, Sublett JE, Li B, et al. Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res: 1993;53:5108-12.
18. Lai E, Clark KL, Burley SK, et al. Hepatocyte nuclear factor 3/fork head or "winged helix" proteins: a family of transcription factors of diverse biologic function. Proc Natl Acad Sci USA 1993;90:10421-3.
19. Davis RJ, D'Cruz CM, Lovell MA, et al. Fusion of PAX7 to FKHR by the variant t(1;13)(p36:q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 1994;54:2869-72.
20. Downing JR, Khandekar A, Shurtleff SA, et al. Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma. Amer J Pathol 1995;146:626-34.
21. Fredericks WJ, Galili N, Mukhopadhyay S, et al. The PAX3-FKHR fusion protein created by the t(2:13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. Mol Cell Biol 1995;15:1522-35.
22. Barr FG, Nauta LE, Davis RJ, et al. In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet 1996;5:15-21.
23. Barr FG, Chatten J, D'Cruz CM, et al. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995;27:553-7.
24. de Alava E, Ladanyi M, Rosai J, et al. Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. Amer J Pathol 1995;147:1584-91.
25. Arden KC, Anderson MJ, Finckenstein FG, et al. Detection of the t(2; 13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase-polymerase chain reaction. Genes Chromosomes Cancer 1996;16:254-60.
26. Kelly KM, Womer RB, Sorensen PHB, et al. Common and variant gene fusions predict distinct clinical phenotypes in rhabdomyosarcoma. J Clin Oncol 1997;15:1831-6.
27. Lai E, Prezioso VR, Smith E, et al. HNF-3A, a hepatocyte-enriched transcription factor of novel structure is regulated transcriptionally. Genes Dev 1990;4:1427-36.
28. Clevidence DE, Overdier DG, Tao W, et al. Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family. Proc Natl Acad Sci USA 1993;90:3948-52.
29. Sublett JE, Jeon IS, Shapiro DN. The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. Oncogene 1995;11:545-52.
30. Bennicelli JL, Edwards RH, Barr FG. Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma. Proc Natl Acad Sci USA 1996;93:5455-9.
31. Bennicelli JL, Fredericks WJ, Wilson RB, et al. Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains. Oncogene 1995;11:119-30.
32. Goulding MD, Chalepakis G, Deutsch U, et al. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 1991;10:1135-47.
33. Jostes B, Walther C, Gruss P. The murine paired box gene, Pax7, is expressed specifically during the development of the nervous and muscular system. Mech Dev 1991;33:27-37.
34. Strachan T, Read AP. PAX genes. Curr Op Gen Dev 1994;4:427-38.
35. Tremblay P, Gruss P. PAX: genes for mice and men. Pharmac Ther 1994;61:205-26.
36. Chalepakis G, Goulding M, Read A, et al. Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc Natl Acad Sci USA 1994;91:3685-9.
37. Underhill DA, Vogan KJ, Gros P. Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity. Proc Natl Acad Sci USA 1995;92:3692-6.
38. Franz T, Kothary R, Surani MAH, et al. The Splotch mutation interferes with muscle development in the limbs. Anat Embryol 1993;187:153-60.
39. Bober E, Franz T, Arnold HH, et al. Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development 1994;120: 603-12.
40. Goulding M, Lumsden A, Paquette AJ. Regulation of Pax-3 expression in the dermomyotome and its role in muscle development. Development 1994;120:957-71.
41. Williams BA, Ordahl CP. Pax-3 expression in segmental mesoderm marks early stages in myogenic cell specification. Development 1994;120:785-96.
42. Epstein JA, Shapiro DN, Cheng J, et al. Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc Natl Acad Sci USA 1996;93:4213-8.
43. Yang XM, Vogan K, Gros P, et al. Expression of the met receptor tyrosine kinase in muscle progenitor cells in somites and limbs is absent in Splotch mice. Development 1996;122:2163-71.
44. Lam PYP, Sublett JE, Jeon IS, et al. Oncogenic potential of the alveolar rhabdomyosarcoma PAX3/FKHR fusion protein. Proc Amer Assoc Cancer Res 1996;37:577.
45. Scheidler S, Fredericks WJ, Rauscher FJ, et al. The hybrid PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma transforms fibroblasts in culture. Proc Natl Acad Sci USA 1996;93:9805-9.
46. Epstein JA, Lam P, Jepeal L, et al. Pax3 inhibits myogenic differentiation of cultured myoblast cells. J Biol Chem 1995;270:11719-22.
47. Bernasconi M, Remppis A, Fredericks WJ, et al. Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins. Proc Natl Acad Sci USA 1996;93:13164-9.
48. Koufos A, Hansen MF, Copeland NG, et al. Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature 1985;316:330-4.
49. Scrable H, Witte D, Shimada H, et al. Molecular differential pathology of rhabdomyosarcoma. Genes Chromosomes Cancer 1989;1:23-35.
50. Scrable HJ, Witte DP, Lampkin BC, et al. Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature 1987;329:645-7.
51. Lob WE, Scrable HJ, Livanos E, et al. Human chromosome 11 contains two different growth suppressor genes for embryonal rhabdomyosarcoma. Proc Natl Acad Sci USA 1992;89:1755-9.
52. Koi M, Johnson LA, Kalikin LM, et al. Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science 1993;260:361-4.
53. Scrable H, Cavenee W, Ghavimi F, et al. A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. Proc Natl Acad Sci USA 1989;86:7480-4.
54. Tycko B. Genomic imprinting: mechanism and role in human pathology. Amer J Pathol 1994;144:431-43.
55. Hao Y, Crenshaw T, Moulton T, et al. Tumour-suppressor activity of H19 RNA. Nature 1993;365:764-7.
56. CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev 1995;9:650-62.
57. KIP2, on chromosome 11p15. Proc Natl Acad Sci USA 1996;93:3026-30.
58. Hoovers JMN, Kalikin LM, Johnson LA, et al. Multiple genetic loci within 11p15 defined by Beckwith-Wiedeman syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 1995;92:12456-60.
59. Weksberg R, Shen DR, Fei YL, et al. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nature Genet 1993;5:143-50.
60. KIP2 is mutated in Beckwith-Wiedemann syndrome. Nature Genet 1996;14:171-3.
61. Lee MP, Hu RJ, Johnson LA, et al. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet 1997;15: 181-5.
62. Weber-Hall S, Anderson J, McManus A, et al. Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res 1996;56: 3220-4.
63. Forus A, Florenes VA, Maelandsmo GM, et al. Mapping of the amplification units in the q13-14 region of chromosome 12 in human sarcomas: some amplica do not include MDM2. Cell Growth Diff 1993;4:1065-70.
64. Meddeb M, Valent A, Danglot G, et al. MDM2 amplification in a primary alveolar rhabodmyosarcoma displaying a t(2;13)(q35;q14). Cytogenet Cell Genet 1996;73:325-30.
65. Khatib ZA, Matsushime H, Valentine M, et al. Coamplification of the CDK4 gene with MDM2 and GLI in human sarcomas. Cancer Res 1993;53:5535-41.
66. Dias P, Kumar P, Marsden HB, et al. N-myc gene is amplified in alveolar rhabdomyosarcomas (RMS) but not in embryonal RMS. Int J Cancer 1990;45:593-6.
67. Driman D, Thorner PS, Greenberg ML, et al. MYCN gene amplification in rhabdomyosarcoma. Cancer 1994;73:2231-7.
68. Stratton MR, Fisher C, Gusteron BA, et al. Detection of point mutations in N-ras and K-ras genes of human embryonal rhabdomyosarcomas using oligonucleotide probes and the polymerase chain reaction. Cancer Res 1989;49:6324-7.
69. Wilke W, Maillet M, Robinson R. H-ras-1 point mutations in soft tissue sarcomas. Modern Path 1993;6:129-32.
70. Chardin P, Yeramian P, Madaule P, et al. N-ras gene activation in the RD human rhabdomyosarcoma cell line. Int J Cancer 1985;35:647-52.
71. Pedone PV, Tirabosco R, Cavazzana AO, et al. Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors. Human Mol Genet 1994;3:1117-21.
72. Zhan S, Shapiro DN, Helman LJ. Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma. J Clin Invest 1994;94:445-8.
73. Minniti CP, Helman LJ. IGF-II in the pathogenesis of rhabdomyosarcoma: a prototype of IGFs involvement in human tumorigenesis. In: LeRoith D, Raizada MK. (eds). Current Directions in Insulin-Like Growth Factor Research. New York: Plenum Press. 1994:327-43.
74. Mulligan LM, Matlashewski GJ, Scrable HJ, et al. Mechanisms of p53 loss in human sarcomas. Proc Natl Acad Sci USA 1990;87:5863-7.
75. Felix CA, Rappel CC, Mitsudomi T, et al. Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma. Cancer Res 1992;52:2243-7.
76. Stratton MR, Moss S, Warren W, et al. Mutation of the p53 gene in human soft tissue sarcomas: association with abnormalities of the RB1 gene. Oncogene 1990;5:1297-301.
77. Wurl P, Taubert H, Bache M, et al. Frequent occurrence of p53 mutations in rhabdomyosarcoma and leiomyosarcoma, but not in fibrosarcoma and malignant neural tumors. Int J Cancer 1996;69:317-23.
78. Mousses S, McAuley L, Bell RS, et al. Molecular and immunohistochemical identification of p53 alterations in bone and soft tissue sarcomas. Modern Path 1996;9:1-6.
79. Kawai A, Noguchi M, Beppu Y, et al. Nuclear immunoreaction of p53 protein in soft tissue sarcomas. Cancer 1994;73:2499-505.
80. Diller L, Sexsmith E, Gottlieb A, et al. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J Clin Invest 1995;95:1606-11.
81. deChiara A, T'Ang A, Triche TJ. Expression of the retinoblastoma susceptibility gene in childhood rhabdomyosarcomas. J Natl Cancer Inst 1993;85:152-7.
82. Iolascon A, Faienza MF, Coppola B, et al. Analysis of cyclin-dependent kinase inhibitor genes (CDKN2A, CDKN2B, and CDKN2C) in childhood rhabdomyosarcoma. Genes Chromosomes Cancer 1996;15:217-22.
83. Visser M, Bras J, Sijmons C, et al. Microsatellite instability in childhood rhabdomyosarcoma is locus specific and correlates with fractional allelic loss. Proc Natl Acad Sci USA 1996;93:9172-6.
84. Fain PR, Kort EN, Yousry C, et al. A high resolution CEPH crossover mapping panel and integrated map of chromosome 11. Hitman Mol Genet 1996;5:1631-6.
85. Besnard-Guerin C, Newsham I, Winqvist R, et al. A common region of loss of heterozygosity in Wilms' tumor and embryonal rhabdomyosarcoma distal to the D11S988 locus on chromosome 11p15.5. Hum Genet 1996;97:163-70.
86. Sait SNJ, Nowak NJ, Singh-Kahlon P, et al. Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5. Genes Chromosomes Cancer 1994;11:97-105.