Weber-Hall S, Anderson J, McManus A, Abe S, Nojima T, Pinkerton R, Pritchard-Jones K, Shipley J
Section of Pediatrics, Institute of Cancer Research, Belmont, Sutton, Surrey, United Kingdom.
Cancer Res. 1996 Jul 15;56(14):3220-4.
In this study, 10 embryonal and 14 alveolar rhabdomyosarcoma (RMS) tumor samples, including 4 cell lines derived from tumors of the alveolar subtype, were analyzed by comparative genomic hybridization. In the embryonal tumors, the gain of whole or most of various chromosomes, notably chromosomes 2 (60% of cases), 13 (60%), 12 (60%), 8 (60%), 7 (50%), 17 (40%), 18 (40%), and 19 (40%), and the loss of chromosomes 16 (40%), 10 (30%), 15 (20%), and 14 (20%) were found. One case showed evidence of genomic amplification at 12q13-15. In contrast, the alveolar tumors and cell lines showed consistent evidence of genomic amplification, with multiple amplicons in some cases. The amplicons were localized to l2q13-15 (50%), 2p24 (36%), 13q14 (14%), l3q32 (14%), 1q36 (14%), 1q21 (7%), and 8q13-21 (7%). Four cases had additional copies of chromosome 17 or l7q. These changes were in addition to the presence of fusion gene transcripts that are associated with translocations specific to alveolar RMS. The results show that distinct patterns of primarily gains of specific chromosomal material are associated with the embryonal subtype of RMS, and that genomic amplification seems to play an important role in the alveolar subtype. Notably, these distinct changes predominantly involved chromosomes 2, 12, and 13 in both subtypes.
在本研究中，通过比较基因组杂交分析了10个胚胎性和14个肺泡状横纹肌肉瘤（RMS）肿瘤样本，其中包括4个源自肺泡亚型肿瘤的细胞系。在胚胎性肿瘤中，发现了各种染色体全部或大部分的增加，尤其是染色体2（60%的病例）、13（60%）、12（60%）、8（60%）、7（50%）、17（40%）、18（40%）和19（40%），以及染色体16（40%）、10（30%）、15（20%）和14（20%）的缺失。1例在12q13 - 15处显示基因组扩增证据。相比之下，肺泡状肿瘤和细胞系显示出一致的基因组扩增证据，在某些情况下有多个扩增子。扩增子定位于12q13 - 15（50%）、2p24（36%）、13q14（14%）、13q32（14%）、1q36（14%）、1q21（7%）和8q13 - 21（7%）。4例有额外的17号染色体或17q拷贝。这些变化除了存在与肺泡状RMS特异性易位相关的融合基因转录本外。结果表明，特定染色体物质主要增加的不同模式与RMS的胚胎性亚型相关，并且基因组扩增似乎在肺泡状亚型中起重要作用。值得注意的是，这两种亚型中这些明显的变化主要涉及染色体
