Bonin G, Scamps C, Turc-Carel C, Lipinski M
Laboratoire de Biologie des Tumeurs Humaines, CNRS URA 1156, Institut Gustave Roussy, Villejuif, France.
Cancer Res. 1993 Aug 15;53(16):3655-7.
Peripheral neuroectodermal tumors include the differentiated neuroepithelioma and the undifferentiated Ewing's tumor. Despite clinical and pathological differences, both malignancies are characterized by a t(11;22)(q24;q12) translocation which is observed in > 90% of the cases. Molecularly, the translocation is underlaid by a rearrangement between the EWS and Fli-1 genes on chromosomes 22 and 11, respectively. Because of the difficulties in the differential diagnosis between various small round cell tumors of childhood, including Ewing's tumor, a molecular diagnostic assay would be desirable. A prerequisite for predicting the reliability of such a test resides in the molecular elucidation of the peripheral neuroectodermal tumor cases which do not exhibit the prototypical translocation. We have analyzed one such case of Ewing's tumor-derived cell line with a t(11;22;14)(q24;q12;q11) translocation. An EWS-Fli-1 fusion transcript was evidenced by polymerase chain reaction amplification of a reverse transcription product obtained from total RNA. Direct sequencing was performed to demonstrate that the molecular rearrangement in this particular Ewing sample resulted in a fusion transcript similar to those observed in tumors with the prototypical translocation.
外周神经外胚层肿瘤包括分化型神经上皮瘤和未分化的尤因肉瘤。尽管在临床和病理上存在差异，但这两种恶性肿瘤均具有t(11;22)(q24;q12)易位特征，超过90%的病例中可观察到该易位。从分子层面来看，该易位是由22号和11号染色体上的EWS和Fli-1基因之间的重排引起的。由于儿童期各种小圆细胞肿瘤（包括尤因肉瘤）的鉴别诊断存在困难，因此需要一种分子诊断检测方法。预测此类检测可靠性的一个前提是对外周神经外胚层肿瘤病例进行分子层面的阐释，这些病例未表现出典型的易位。我们分析了一例具有t(11;22;14)(q24;q12;q11)易位的尤因肉瘤衍生细胞系。通过对从总RNA获得的逆转录产物进行聚合酶链反应扩增，证实了EWS-Fli-1融合转录本的存在。进行直接测序以证明该特定尤因肉瘤样本中的分子重排产生了一种融合转录本，类似于在具有典型易位的肿瘤中观察到的转录本。
