Rhabdomyosarcoma in children is a “small round blue cell tumour” that displays skeletal muscle differentiation. Two main histological variants are recognised, alveolar (ARMS) and embryonal (ERMS) rhabdomyosarcoma. Whereas consistent chromosome translocations characteristic of ARMS have been reported, no such cytogenetic abnormality has yet been described in ERMS. We have used multiple colour chromosome painting to obtain composite karyotypes for five ERMS cell lines and one PAX-FOXO1A fusion gene negative ARMS. The cell lines were assessed by spectral karyotyping (SKY), tailored multi-fluorophore fluorescence in situ hybridisation (M-FISH) using series of seven colour paint sets generated to examine specific abnormalities, and comparative genomic hybridisation (CGH). This approach enabled us to obtain karyotypes of the cell lines in greater detail than previously possible. Several recurring cytogenetic abnormalities were demonstrated, including translocations involving chromosomes 1 and 15 and chromosomes 2 and 15, in 4/6 and 2/6 cell lines respectively. All six cell lines demonstrated abnormalities of chromosome 15. Translocations between chromosomes 1 and 15 have previously been recorded in two primary cases of ERMS by conventional cytogenetics. Analysis of the translocation breakpoints may suggest mechanisms of ERMS tumourigenesis and may enable the development of novel approaches to the clinical management of this tumour.   

Anderson J, Gordon A, Pritchard-Jones K, Shipley J: Genes, chromosomes, and rhabdomyosarcoma. Genes Chrom Cancer 26:275–285 (1999).
Anderson J, Gordon T, McManus A, Mapp T, Gould S, Kelsey A, McDowell H, Pinkerton R, Shipley J, Pritchard-Jones K: Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? UK Children’s Cancer Study Group (UKCCSG) and the UK Cancer Cytogenetics Group. Br J Cancer 85:831–835 (2001).
Barr FG: Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. Oncogene 20:5736–5746 (2001).
Bridge JA, Liu J, Weibolt V, Baker KS, Perry D, Kruger R, Qualman S, Barr F, Sorensen P, Triche T, Suijkerbuijk R: Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an intergroup rhabdomyosarcoma study. Genes Chrom Cancer 27:337–344 (2000).
Chung WY, Yuan L, Feng L, Hensle T, Tycko B: Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms’ tumors. Hum molec Genet 5:1101–1108 (1996).
Crist W, Gehan EA, Ragab AH, Dickman PS, Donaldson SS, Fryer C, Hammond D, Hays DM, Herrmann J, Heyn R, et al: The third intergroup rhabdomyosarcoma study. J Clin Oncol 13:610–630 (1995).
Davis RJ, D’Cruz CM, Lovell MA, Biegel JA, Barr FG: Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 54:2869–2872 (1994).
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 146:626–634 (1995).
Felix CA, Kappel CC, Mitsudomi T, Nau MM, Tsokos M, Crouch GD, Nisen PD, Winick NJ, Helman LJ: Frequency and diversity of p53 mutations in childhood rhabdomyosarcoma. Cancer Res 52:2243–2247 (1992).
Gordon T, McManus A, Anderson J, Min T, Swansbury J, Pritchard Jones K, Shipley J: Cytogenetic abnormalities in 42 rhabdomyosarcoma: a United Kingdom Cancer Cytogenetics Group Study. Med Ped Oncol 36:259–267 (2001).
Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T: An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nature Genet 14:171–173 (1996).
Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM, Feinberg AP: A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. Genomics 46:9–17 (1997).
Kallioniemi OP, Kallioniemi A, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D: Comparative genomic hybridization: a rapid new method for detecting and mapping DNA amplification in tumors. Semin Cancer Biol 4:41–46 (1993).
Kelland LR, Bingle L, Edwards S, Steel GG: High intrinsic radiosensitivity of a newly established and characterised human embryonal rhabdomyosarcoma cell line. Br J Cancer 59:160–164 (1989).
Kubo K, Naoe T, Utsumi KR, Ishiguro Y, Ueda K, Shiku H, Yamada K: Cytogenetic and cellular characteristics of a human embryonal rhabdomyosarcoma cell line, RMS-YM. Br J Cancer 63:879–884 (1991).
McAllister RM, Melnyk J, Finkelstein JZ, Adams EC, Jr, Gardner MB: Cultivation in vitro of cells derived from a human rhabdomyosarcoma. Cancer 24:520–526 (1969).
McAllister RM, Nelson Rees WA, Johnson EY, Rongey RW, Gardner MB: Disseminated rhabdomyosarcomas formed in kittens by cultured human rhabdomyosarcoma cells. J natl Cancer Inst 47:603–611 (1971).
Nelson-Rees WA, Flandermeyer RR, Hawthorne PK: Distinctive banded marker chromosomes of human tumor cell lines. Int J Cancer 16:74–82 (1975).
Pandita A, Zielenska M, Thorner P, Bayani J, Godbout R, Greenberg M, Squire J: Application of comparative genomic hybridization, spectral karyotyping, and microarray analysis in the identification of subtype-specific patterns of genomic changes in rhabdomyosarcoma. Neoplasia 1:262–275 (1999).
Parham DM: Pathologic classification of rhabdomyosarcoma and correlations with molecular studies. Mod Pathol 14:506–514 (2001).
Polito P, Dal Cin P, Sciot R, Brock P, Van Eyken P, Van den Berghe H: Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature. Cancer Genet Cytogenet. 109:161–165 (1999).
Roberts I, Wienberg J, Nacheva E, Grace C, Griffin D, Coleman N: Novel method for the production of multiple colour chromosome paints for use in karyotyping by fluorescence in situ hybridisation. Genes Chrom Cancer 25:241–250 (1999).
Sabbioni S, Barbanti-Brodano G, Croce CM, Negrini M: GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. Cancer Res 57:4493–4497 (1997).
Sorensen PH, Shimada H, Liu XF, Lim JF, Thomas G, Triche TJ: Biphenotypic sarcomas with myogenic and neural differentiation express the Ewing’s sarcoma EWS/FLI1 fusion gene. Cancer Res 55:1385–1392 (1995).
Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA, Tunnacliffe A: Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:1347–1349 (1992a).
Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson Smith MA, Nordenskjold M, Pfragner R, Ponder BA: Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chrom Cancer 4:257–263 (1992b).
Turc-Carel C, Lizard-Nacol S, Justrabo E, Favrot M, Philip T, Tabone E: Consistent chromosomal translocation in alveolar rhabdomyosarcoma. Cancer Genet Cytogenet 19:361–362 (1986).
Urumov IJ, Manolova Y: Cytogenetic analysis of an embryonal rhabdomyosarcoma cell line [letter]. Cancer Genet Cytogenet 61:214–215 (1992).
Weber Hall S, Anderson J, McManus A, Abe S, Nojima T, Pinkerton R, Pritchard Jones K, Shipley J: Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res 56:3220–3224 (1996).
Whang Peng J, Knutsen T, Theil K, Horowitz ME, Triche T: Cytogenetic studies in subgroups of rhabdomyosarcoma. Genes Chrom Cancer 5:299–310 (1992).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.