Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors.
Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors.
复制标题
用于检测小圆形细胞肿瘤中 t(11;22)(q24;q12) 的间期细胞遗传学。
DOI：
10.1172/jci116068
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Evans,GA
中科院分区：
文献类型：
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作者：
Giovannini,M;Selleri,L;Biegel,JA;Scotlandi,K;Emanuel,BS;Evans,GA
在小圆细胞肿瘤中，由于其未分化或原始特征，鉴别诊断特别困难。在这组混合肿瘤中，只有原始神经外胚层肿瘤，包括尤文肉瘤（ES），显示出独特和一致的特征（11;22）（q24;q12）易位，因此可以认为是这些肿瘤的标志。我们分析了四个原始神经外胚层肿瘤细胞系，一个骨肉瘤细胞系，和11例患者的荧光原位杂交与粘粒克隆23.2和5.8，包围t（11;22）在11 q24。分析了来自肿瘤细胞系和来自三名ES患者的活检标本的中期扩散。在其余8例患者（包括5例ES、2例小细胞骨肉瘤和1例慢性骨髓炎）中，只有细胞核制剂可用于分析。我们检测到t（11; 22）在间期核的四个原始神经外胚层肿瘤细胞系，三名患者的核型证明易位和5例ES的细胞遗传学分析是不可能的。两例小细胞骨肉瘤和一个慢性骨髓炎也进行了分析，都是正常的t（11;22）。通过荧光原位杂交分析细胞系和小圆细胞肿瘤样本，我们确定间期细胞遗传学是检测t（11;22）的染色体分析的快速替代方法，是小圆细胞肿瘤鉴别诊断的宝贵工具。图片
Among the small round cell tumors differential diagnosis is particularly difficult for their undifferentiated or primitive character. In this mixed group of tumors, only the primitive neuroectodermal tumors, which include Ewing's sarcoma (ES), show the unique and consistent feature of the (11;22)(q24;q12) translocation, which can therefore be considered a hallmark of these neoplasias. We analyzed four primitive neuroectodermal tumor cell lines, one osteosarcoma cell line, and 11 patients by fluorescent in situ hybridization with cosmid clones 23.2 and 5.8, bracketing the t(11;22) at 11q24. Metaphase spreads from tumor cell lines, and from biopsy specimens of three patients with ES were analyzed. In the remaining eight patients comprising five ES, two small cell osteosarcomas and one chronic osteomyelitis, only nuclei preparations were available for analysis. We detected the t(11;22) in interphase nuclei of the four primitive neuroectodermal tumor cell lines, of three patients in which the karyotype demonstrated the translocation and in five cases of ES in which cytogenetic analysis had not been possible. Two cases of small cell osteosarcoma and one chronic osteomyelitis were also analyzed and were both normal with respect to the t(11;22). By analyzing cell lines and small round cell tumor samples by fluorescent in situ hybridization, we established that interphase cytogenetics is a rapid alternative to chromosomal analysis for the detection of the t(11;22) and represents an invaluable tool for the differential diagnosis of small round cell tumors.Images