Dockhorn-Dworniczak B, Schäfer K L, Dantcheva R, Blasius S, van Valen F, Burdach S, Winkelmann W, Jürgens J, Böcker W
Gerhard-Domagk-Institut für Pathologie, Westfälische Wilhelms-Universität, Münster.
Verh Dtsch Ges Pathol. 1994;78:214-9.
Recent cloning of the chromosome breakpoint regions of the reciprocal chromosomal t(11;22) (q24;q12) has revealed that the breakpoints were localized within the EWS gene (Ewings sarcoma gene) on chromosome 22 and the FLI-1 gene on chromosome 11. Thus, molecular genetic techniques were applicable for the detection of this genetic aberration, which occurs as a consistent feature of the Ewings tumor family. By reverse transcription and polymerase chain reaction technique (RT-PCR) in 78% of Ewings sarcoma derived cell lines, and in 91% of primary Ewings tumor tissue t(11;22) specific EWS/FLI-1 fusion transcripts were detected. Furthermore, in bone marrow samples from an Ewings sarcoma patient contaminating tumor cells could be shown by RT-PCR. Our results indicate that molecular genetic detection of the t(11;22) translocation opens a new modality for the differential diagnosis and the staging of Ewings tumor patients.
最近对相互易位的染色体t(11;22)(q24;q12)的染色体断点区域进行克隆后发现，断点位于22号染色体上的EWS基因（尤因肉瘤基因）和11号染色体上的FLI-1基因内。因此，分子遗传学技术可用于检测这种基因畸变，它是尤因肿瘤家族的一个一致特征。通过逆转录和聚合酶链反应技术（RT-PCR），在78%的尤因肉瘤衍生细胞系以及91%的原发性尤因肿瘤组织中检测到了t(11;22)特异性EWS/FLI-1融合转录本。此外，通过RT-PCR在一名尤因肉瘤患者的骨髓样本中发现了污染的肿瘤细胞。我们的结果表明，t(11;22)易位的分子遗传学检测为尤因肿瘤患者的鉴别诊断和分期开辟了一种新的方法。
