Gattenlöhner S, Müller-Hermelink H K, Marx A
Institut für Pathologie, Universität Würzburg.
Verh Dtsch Ges Pathol. 1998;82:195-201.
Myogenin and the fetal type acetylcholine receptor (AChR) subunits are specific immunohistochemical markers for the diagnosis of rhabdomyosarcomas. In spite of light microscopy and immunohistochemistry, the diagnosis of doubtful cases and small biopsies of rhabdomyosarcomas remains a challenge. Therefore, a PCR-based highly sensitive approach, would be a valuable diagnostic adjunct and should be free from the risk of contamination of the tumor sample with normal tissue. We studied the transcription of myogenin and fetal type AChR in rhabdomyosarcomas, other childhood and adult tumors and normal tissues. In all embryonal and alveolar rahbdomyosarcomas transcripts of both myogenin and fetal type AChR could be detected. The detection of myogenin mRNA however was not specific for rhabdomyosarcomas but occurred in normal muscle and the majority of other normal tissues and childhood tumors. In contrast the transcription of fetal type AChR, which is defined by an alpha subunit AChR/gamma subunit AChR ratio < 1 was encountered only in rhabdomyosarcomas and denervated muscle. Therefore we suggest, that mRNA of the fetal type AChR but not myogenin is a highly specific and sensitive target for the PCR-based diagnosis of rhabdomyosarcomas.
肌细胞生成素和胎儿型乙酰胆碱受体(AChR)亚基是诊断横纹肌肉瘤的特异性免疫组织化学标志物。尽管有光学显微镜检查和免疫组织化学方法,但对疑难病例和横纹肌肉瘤小活检标本的诊断仍然是一项挑战。因此,基于聚合酶链反应(PCR)的高灵敏度方法将是一种有价值的诊断辅助手段,并且应避免肿瘤样本被正常组织污染的风险。我们研究了横纹肌肉瘤、其他儿童和成入肿瘤以及正常组织中肌细胞生成素和胎儿型AChR的转录情况。在所有胚胎型和肺泡型横纹肌肉瘤中均能检测到肌细胞生成素和胎儿型AChR的转录本。然而,肌细胞生成素mRNA的检测并非横纹肌肉瘤所特有,在正常肌肉以及大多数其他正常组织和儿童肿瘤中也会出现。相比之下,胎儿型AChR的转录(由α亚基AChR/γ亚基AChR比值<1定义)仅在横纹肌肉瘤和失神经肌肉中出现。因此,我们认为胎儿型AChR的mRNA而非肌细胞生成素的mRNA是基于PCR诊断横纹肌肉瘤的高度特异性和敏感性靶点。