Berková A, Dundr P, Povýsil C, Melcákova S, Tvrdík D
Institute of Clinical Biochemistry and Laboratory Diagnostics, Charles University and General Faculty Hospital, Prague, Czech Republic.
Cesk Patol. 2008 Jul;44(3):67-70.
Ewing's sarcoma is relatively uncommon tumor representing 6-8 percent of malignant bone tumors with variable morphology. Cytogenetically, Ewing's sarcomas are characterized by a specific reciprocal chromosomal translocation t(11;22)(q24;q12). The presence of this chromosomal translocation has been detected in approximately 85 percent of the cases. The translocation results in the fusion of EWS gene from chromosome 22 to FLI1 gene at 11q24 which is a member of ETS family of transcription factors. In this study we performed a comparison of two molecular diagnostic strategies, namely RT-PCR and FISH, in fresh, frozen and formalin-fixed paraffin-embedded tissues. We conclude that FISH is a more sensitive technique than RT-PCR for the diagnosis of Ewing's tumors in formalin-fixed paraffin-embedded tissue. In conclusion, molecular pathology techniques, using reverse transcription-polymerase chain reaction (RT-PCR) and/or fluorescence in situ hybridization (FISH) are valuable diagnostic tools for evaluation of undifferentiated small round-cell tumors like Ewing's sarcoma.
尤因肉瘤是一种相对罕见的肿瘤，占恶性骨肿瘤的6%-8%，形态多样。细胞遗传学上，尤因肉瘤的特征是特定的相互染色体易位t(11;22)(q24;q12)。在大约85%的病例中检测到这种染色体易位。该易位导致22号染色体上的EWS基因与11q24处的FLI1基因融合，FLI1基因是ETS转录因子家族的成员。在本研究中，我们对新鲜、冷冻和福尔马林固定石蜡包埋组织中的两种分子诊断策略，即逆转录聚合酶链反应（RT-PCR）和荧光原位杂交（FISH）进行了比较。我们得出结论，在福尔马林固定石蜡包埋组织中诊断尤因肿瘤时，FISH是一种比RT-PCR更敏感的技术。总之，使用逆转录聚合酶链反应（RT-PCR）和/或荧光原位杂交（FISH）的分子病理学技术是评估尤因肉瘤等未分化小细胞肿瘤的有价值的诊断工具。
