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.
MetadataShow full item record
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.
Tumor Cells, Cultured
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 15
Soft Tissue Neoplasms
Oncogene Proteins, Fusion
Paired Box Transcription Factors
PAX7 Transcription Factor
Forkhead Transcription Factors
Sarcoma Molecular Pathology
License start date
Cytogenetics and cell genetics, 2001, 95 (3-4), pp. 134 - 142
Showing items related by title, author, creator and subject.
Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk. Crowther-Swanepoel, D; Mansouri, M; Enjuanes, A; Vega, A; Smedby, KE; Ruiz-Ponte, C; Jurlander, J; Juliusson, G; Montserrat, E; Catovsky, D; Campo, E; Carracedo, A; Rosenquist, R; Houlston, RS (2010-08)A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and ...
Turajlic, S; Xu, H; Litchfield, K; Rowan, A; Chambers, T; Lopez, JI; Nicol, D; O'Brien, T; Larkin, J; Horswell, S; Stares, M; Au, L; Jamal-Hanjani, M; Challacombe, B; Chandra, A; Hazell, S; Eichler-Jonsson, C; Soultati, A; Chowdhury, S; Rudman, S; Lynch, J; Fernando, A; Stamp, G; Nye, E; Jabbar, F; Spain, L; Lall, S; Guarch, R; Falzon, M; Proctor, I; Pickering, L; Gore, M; Watkins, TBK; Ward, S; Stewart, A; DiNatale, R; Becerra, MF; Reznik, E; Hsieh, JJ; Richmond, TA; Mayhew, GF; Hill, SM; McNally, CD; Jones, C; Rosenbaum, H; Stanislaw, S; Burgess, DL; Alexander, NR; Swanton, C; PEACE; TRACERx Renal Consortium (2018-04-19)Clear-cell renal cell carcinoma (ccRCC) exhibits a broad range of metastatic phenotypes that have not been systematically studied to date. Here, we analyzed 575 primary and 335 metastatic biopsies across 100 patients with ...
The morphology of CLL revisited: the clinical significance of prolymphocytes and correlations with prognostic/molecular markers in the LRF CLL4 trial. Oscier, D; Else, M; Matutes, E; Morilla, R; Strefford, JC; Catovsky, D (2016-09)Historically, an increase in the percentage and number of circulating prolymphocytes in chronic lymphocytic leukaemia (CLL) has been associated with strong expression of surface immunoglobulin, trisomy 12 and a poor outcome. ...