中文摘要：

目的探讨腺泡状横纹肌肉瘤（ARMS）基因组DNA的变化特征。方法采用一步法逆转录聚合酶链反应，检测10例原发性ARMS患者标本中PAX3-FKHR和PAX7-FKHR融合基因的mRNA表达。采用比较基因组杂交（CGH）技术，分析ARMS染色体基因组的变化特征。根据融合基因的表达情况以及患者的临床病理特征进行分组比较。同时收集ARMS细胞株A204作为对照。结果10例原发性ARMS患者标本中，PAX3-FKHR融合基因表达6例，PAX7-FKHR融合基因表达2例，2例未检测到融合基因表达。CGH分析结果显示，10例ARMS标本中，基因组DNA扩增频率最高的染色体臂为12q，占70．0％；其他依次为2p、6p、6q、10q、2q、4q、15q、1p、9q、14q和18q，均≥30．0％；其中常见的最小重叠扩增区段为12q13、2p24、6p21和2q31。基因组DNA缺失频率最高的染色体臂是3p、6p、20q和21q，均〉30．O％；缺失部位比较分散，最小重叠缺失区段无集中趋势。伴有融合基因表达的8例ARMS标本中，基因组DNA扩增频率最高的染色体臂是12q，占87．5％；其他依次为10q、2p、2q、6p、6q、1p、4q、8q、11q-14q和15q，均〉30．0％。基因组DNA缺失频率最高的染色体臂是3p、5q、6p、1q、8p、11P-20q和21q，均〉30．0％。ARMS的染色体改变与组织学分级、临床分期、年龄和性别均无关（均P〉0．05）。结论12q、2p、6p、6q、10q、2q、4q、15q、1p、9q、14q和18q的扩增以及3p、6p、20q和21q的缺失可能与ARMS的发病相关，12q的扩增还可能与PAX3-FKHR和PAX7．FKHR融合基因的表达相关。

英文摘要：

Objective The aim of this study was to characterize the profile of chromosomal imbalances of alveolar rhabdomyosarcoma （ARMS）. Methods One-step RT-PCR was used to detect the expression of PAX3-FKHR and PAX7-FKHR fusion transcripts in 10 cases of alveolar rhabdomyosarcoma and in an ARMS cell line. Comparative genomic hybridization （CGH） was used to investigate the genomic imbalances in these cases. It was analyzed according to the histological type, pathologic grading, clinical staging, gender and age, respectively. Results The 10 patients with alveolar rhabdomyosarcoma showed evidence of increased or decreased DNA sequence copy numbers involving one or more regions of the genome. （1） The frequently gained chromosome arms of ARMS were 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, lp, 9q, 14q and 18q （≥30.0% ）, and the frequently lost chromosome arms of ARMS were 3p, 6p, 20q and 21q （ 〉30.0% ）. （2） The frequently gained chromosome arm translocation associated with ARMS were 12q, 10q, 2p, 2q, 6p, 6q, 1p, 4q, 8q, llq, 14q and 15q （ 〉30.0% ）. The frequently lost chromosome arms were 3p, 5q, 6p, 1q, 8p, lip, 20q and 21q （ 〉30.0% ）. （3） There were no correlation between chromosome changes and histological type, pathologic grade, clinical stage, gender and age, respectively. Conclusion These observations suggest that： （1） 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, 1p, 9q, 14q, 18q gaine and 3p, 6p, 20q, 21q loss may correlated with ARMS-related carcinogenesis; （2） 12q gain may be correlated with translocation.