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Molecular cytogenetic analysis consistently identifies translocations involving chromosomes 1, 2 and 15 in five embryonal rhabdomyosarcoma cell lines and a PAX-FOXO1A fusion gene negative alveolar rhabdomyosarcoma cell line.

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Date
2001-01
ICR Author
Shipley, Janet
Author
Roberts, I
Gordon, A
Wang, R
Pritchard-Jones, K
Shipley, J
Coleman, N
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Type
Journal Article
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Abstract
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.
URI
https://repository.icr.ac.uk/handle/internal/1930
DOI
https://doi.org/10.1159/000059335
Collections
  • Cancer Therapeutics
  • Molecular Pathology
Subject
Tumor Cells, Cultured
Chromosomes, Human
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 15
Humans
Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma, Embryonal
Soft Tissue Neoplasms
Translocation, Genetic
DNA-Binding Proteins
Homeodomain Proteins
Oncogene Proteins, Fusion
Transcription Factors
Karyotyping
Gene Dosage
Child
Female
Paired Box Transcription Factors
PAX7 Transcription Factor
Forkhead Transcription Factors
PAX3 Transcription Factor
Forkhead Box Protein O1
Research team
Sarcoma Molecular Pathology
Language
eng
License start date
2001-01
Citation
Cytogenetics and cell genetics, 2001, 95 (3-4), pp. 134 - 142

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