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. 2002 Dec;55(6):389-93.
doi: 10.1136/mp.55.6.389.

Evaluation of paediatric osteosarcomas by classic cytogenetic and CGH analyses

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Evaluation of paediatric osteosarcomas by classic cytogenetic and CGH analyses

J R Batanian et al. Mol Pathol. 2002 Dec.

Abstract

Classic cytogenetic and comparative genomic hybridisation (CGH) data on osteosarcomas have been reported extensively in the literature. However, the number of paediatric osteosarcoma cases studied below the age of 14 years remains relatively small. This study reports four new cases of paediatric osteosarcoma in patients aged 3 to 13 years, evaluated by classic cytogenetics and CGH analyses. Clonal chromosomal alterations were detected in all the cases and included structural rearrangements at 1p11-13, 1q11, 4q27-33, 6p23-25, 6q16-25, 7p13-22, 7q11-36, 11p10-15, 11q23, 17p11.2-13, 21p11, and 21q11-22. The CGH analysis revealed recurrent gains at 1p, 4q, 17p, and 21q and losses at 3q and 16p. Five amplification sites were observed at 1q11-23, 6p21, 8q13, 8q21.3-24.2, and 17p. The data are discussed and compared with other cytogenetic reports in the literature.

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Figures

Figure 1
Figure 1
Examples of structurally rearranged chromosomes and chromosomal markers detected by GTG banding. The arrows indicate the rearranged chromosomes.
Figure 2
Figure 2
Results of comparative genomic hybridisation evaluation of case 2. The vertical lines on the right side of the chromosome ideograms reflect different values of the fluorescence ratio between the test and the normal DNA. The values are 0.5, 0.75, 1.0, 1.25, 1.5, 1.75, and 2.0 from left to right. Ratios of 1.25 or higher reflect gains whereas rations of 0.75 or lower reflect losses. N is the number of chromosomes used to generate each ratio profile. The profile shows an amplification at 6p21, gains at 4q26, 17p11.2, and 18p, an increase in the X chromosome copy number, and loss of 3pter–q22.
Figure 3
Figure 3
Karyogram of the DNA copy number changes seen in the three osteosarcoma cases. Bars to the right side of the chromosome ideogram indicate a gain whereas bars to the left side indicate a loss of genetic material. Bold lines indicate amplifications. The numbers on the top of each bar refer to the case number.

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