Downing J R, Head D R, Parham D M, Douglass E C, Hulshof M G, Link M P, Motroni T A, Grier H E, Curcio-Brint A M, Shapiro D N
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105.
Am J Pathol. 1993 Nov;143(5):1294-300.
Ewing's sarcoma and the related primitive neuroectodermal tumor (PNET) share a unique and specific t(11;22)(q24;q12) chromosomal translocation. The breakpoints have recently been cloned and shown to involve the EWS gene on chromosome 22 and the FLI-1 gene on chromosome 11. Translocation results in the fusion of these genes on the der(22) chromosome, resulting in the production of a novel chimeric EWS/FLI-1 message. Using oligonucleotide primers derived from EWS and FLI-1 complementary DNAs, we were able to amplify a specific fusion transcript from 18 of 18 cases containing t(11;22) and 10 of 14 cases of Ewing's sarcoma/PNET that had unsuccessful cytogenetics. No EWS/FLI-1 fusion transcripts were detected in five cell lines derived from cases of pediatric sarcomas having a histological diagnosis other than Ewing's sarcoma/PNET. The sensitivity and specificity of this PCR analysis demonstrates the usefulness of this approach for the primary diagnosis of t(11;22)-containing Ewing's sarcoma/PNET and for the detection of metastatic or residual disease.
尤因肉瘤及相关的原始神经外胚层肿瘤（PNET）具有独特且特定的t(11;22)(q24;q12)染色体易位。这些断点最近已被克隆，结果显示涉及22号染色体上的EWS基因和11号染色体上的FLI-1基因。易位导致这些基因在der(22)染色体上融合，从而产生一种新的嵌合EWS/FLI-1信使。利用源自EWS和FLI-1互补DNA的寡核苷酸引物，我们能够从18例含有t(11;22)的病例中的18例以及14例细胞遗传学检测失败的尤因肉瘤/PNET病例中的10例中扩增出特异性融合转录本。在源自组织学诊断不是尤因肉瘤/PNET的小儿肉瘤病例的5个细胞系中未检测到EWS/FLI-1融合转录本。这种聚合酶链反应（PCR）分析的敏感性和特异性证明了该方法对于含t(11;22)的尤因肉瘤/PNET的初步诊断以及转移或残留疾病检测的有用性。
