通过经典细胞遗传学和CGH分析评估小儿骨肉瘤。

J R Batanian, L R Cavalli, N M Aldosari, E Ma, C Sotelo-Avila, M B Ramos, J D Rone, C M Thorpe, B R Haddad
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引用次数: 42

摘要

骨肉瘤的经典细胞遗传学和比较基因组杂交(CGH)数据已在文献中广泛报道。然而,14岁以下儿童骨肉瘤病例的研究数量仍然相对较少。本研究报告了4例3至13岁儿童骨肉瘤的新病例,通过经典细胞遗传学和CGH分析进行了评估。所有病例均检测到克隆性染色体改变,包括1p11-13、1q11、4q27-33、6p23-25、6q16-25、7p13-22、7q11-36、11p10-15、11q23、17p11.2-13、21p11和21q11-22的结构重排。CGH分析显示,在第1、第4、第17和第21季度出现周期性收益,而在第3和第16季度出现亏损。在1q11- 23,6p21, 8q13, 8q21.3-24.2和17p处观察到5个扩增位点。我们将这些数据与文献中其他细胞遗传学报告进行了讨论和比较。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of paediatric osteosarcomas by classic cytogenetic and CGH analyses.

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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