Li Qiao-xin, Liu Chun-xia, Chun Cai-pu, Qi Yan, Chang Bin, Nong Wei-xia, Yao En-sheng, Li Hong-an, Li Feng
Department of Pathology, Shihezi University School of Medicine, Xinjiang 832002, China.
Zhonghua Bing Li Xue Za Zhi. 2008 Aug;37(8):536-41.
To characterize the profile of chromosomal imbalances of rhabdomyosarcoma(RMS).
Comparative genomic hybridization (CGH) was used to investigate genomic imbalances in 25 cases of primary RMS including 10 cases of alveolar rhabdomyosarcoma (ARM), 12 cases of embryonic rhabdomyosarcoma (ERMS), 3 cases of polymorphic rhabdomyosarcoma (PRMS) and 2 RMS cell lines (A240 originated from ARMS and RD from PRMS), with correlation to histological type, pathologic grading, clinical staging, gender and age, respectively.
All twenty-five rhabdomyosarcomas showed evidence of increased or decreased DNA sequence copy numbers involving one or more regions of the genome. (1) The frequently gained chromosome regions in RMS were 2p, 12q, 6p, 9q, 10q, 1p, 2q, 6q, 8q, 15q, 18q, and the frequently lost chromosome regions were 3p, 11p, 6p. (2) The frequently gained chromosome arms in ARMS were 12q, 2p, 6, 2q, 4q, 10q, 15q. The frequently lost chromosome arms were 3p, 6p, 1q, 5q. The frequently gained chromosome regions in ERMS were 7p, 9q, 2p, 18q, 1p, 8q. The frequently lost chromosome arms in ERMS were 11p. (3) The frequently gained chromosome arms in translocation associated RMS were 12q, 2, 6, 10q, 4q and 15q (> 30%), 3p, 6p, 5q (> 30%) were the frequently loss chromosome arms. The frequently gained chromosome regions in non-translocation associated RMS were 2p, 9q, 18q (> 30%), and 11p, 14q (> 30%) were the frequently loss chromosome regions. Gain of 12q was significantly correlated with the translocation-associated tumors (P < 0.05). (4) Gains of 9q was significantly correlated with clinical staging (P < 0.05).
Gain of 2p, 12q, 6p, 9q, 10q, 1p, 2q, 6q, 8q, 15q, 18q and loss of 3p, 11p, 6p may be involved in the tumorigenesis of RMS. Gains of 12q may be correlated with gene fusion/chromosomal translocation in ARMS. Gains of 9q may be correlated with an early tumor stage of RMS.
描述横纹肌肉瘤（RMS）的染色体失衡特征。
采用比较基因组杂交（CGH）技术研究25例原发性RMS的基因组失衡情况，其中包括10例肺泡状横纹肌肉瘤（ARM）、12例胚胎性横纹肌肉瘤（ERMS）、3例多形性横纹肌肉瘤（PRMS）以及2株RMS细胞系（源自ARM的A240和源自PRMS的RD），并分别分析其与组织学类型、病理分级、临床分期、性别和年龄的相关性。
所有25例横纹肌肉瘤均显示出涉及基因组一个或多个区域的DNA序列拷贝数增加或减少的证据。（1）RMS中常见的染色体增加区域为2p、12q、6p、9q、10q、1p、2q、6q、8q、15q、18q，常见的染色体缺失区域为3p、11p、6p。（2）ARM中常见的染色体增加臂为12q、2p、6、2q、4q、10q、15q。常见的染色体缺失臂为3p、6p、1q、5q。ERMS中常见的染色体增加区域为7p、9q、2p、18q、1p、8q。ERMS中常见的染色体缺失臂为11p。（3）与易位相关的RMS中常见的染色体增加臂为12q、2、6、10q、4q和15q（>30%），3p、6p、5q（>30%）为常见的染色体缺失臂。与非易位相关的RMS中常见的染色体增加区域为2p、9q、18q（>30%），11p、14q（>30%）为常见的染色体缺失区域。12q的增加与易位相关肿瘤显著相关（P<0.05）。（4）9q的增加与临床分期显著相关（P<0.05）。
2p、12q、6p、9q、10q、1p、2q、6q、8q、15q的增加以及3p、11p、6p的缺失可能参与了RMS的肿瘤发生。12q的增加可能与ARM中的基因融合/染色体易位相关。9q的增加可能与RMS的早期肿瘤阶段相关。
