Chang Bin, Pang Li Juan, Qi Yan, Liu Chun Xia, Cao Ying, Li Hong An, Hu Wen Hao, Jiang Jin Fang, Zhang Wen Jie, Li Feng
Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China.
Int J Surg Pathol. 2009 Feb;17(1):6-15. doi: 10.1177/1066896908323922. Epub 2008 Nov 6.
The majority of alveolar RMSs have t(2;13)(q35;q14) or (1:13)(p36;q14),which generate PAX3/7 -FKHR fusion genes. Here, the authors detected the PAX3/7-FKHR fusion transcripts in 17 formalin-fixed, paraffin-embedded RMSs and 26 other SRCTs using one-step RT-PCR. PAX3 -FKHR and PAX7-FKHR transcripts were positive in 4/8 and 2/8 cases of ARMS, respectively. 9 ERMSs and 26 other SRCTs were negative for PAX3/7-FKHR. In addition, AChR-gamma and AChR-alpha mRNA were detected by semiquantitative duplex PCR in above cases and 3 normal muscles. 17 RMSs were found to have overexpression of AChR-gamma, with an AChR-gamma/-alpha ratio of > or =1; 3 cases of normal muscle had very weak AChR-gamma expression, with an AChR- gamma/-alpha ratio of <1. AChR-gamma transcripts were not detectable in all 26 other SCRTs. The results demonstrated that detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of RMS and that AChR-gamma is overexpressed in Chinese RMS patients.
大多数肺泡型横纹肌肉瘤具有t(2;13)(q35;q14)或(1;13)(p36;q14)，可产生PAX3/7 - FKHR融合基因。在此，作者使用一步法逆转录聚合酶链反应（RT-PCR）在17例福尔马林固定、石蜡包埋的横纹肌肉瘤和26例其他小圆细胞肿瘤（SRCT）中检测PAX3/7 - FKHR融合转录本。在8例腺泡状横纹肌肉瘤（ARMS）中，PAX3 - FKHR和PAX7 - FKHR转录本分别在4/8和2/8的病例中呈阳性。9例胚胎型横纹肌肉瘤（ERMS）和26例其他SRCT的PAX3/7 - FKHR为阴性。此外，通过半定量双重PCR在上述病例和3块正常肌肉中检测乙酰胆碱受体γ（AChR-γ）和乙酰胆碱受体α（AChR-α）mRNA。发现17例横纹肌肉瘤存在AChR-γ过表达，AChR-γ/AChR-α比值≥1；3例正常肌肉的AChR-γ表达非常弱，AChR-γ/AChR-α比值<1。在所有26例其他SRCT中均未检测到AChR-γ转录本。结果表明，一步法RT-PCR检测PAX3/7 - FKHR融合基因对横纹肌肉瘤的诊断有用，且中国横纹肌肉瘤患者中AChR-γ过表达。
