Chang Chung-Che, Shidham Vinod B
Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.
J Mol Diagn. 2003 Aug;5(3):143-54. doi: 10.1016/S1525-1578(10)60466-7.
The application of molecular genetics to pediatric soft tissue tumors has grown tremendously over the last decade. It has resulted in the identification of novel genes that have provided us with an increased understanding of oncogenesis. Furthermore, these findings have identified diagnostic and potentially prognostic factors for patient management. Molecular diagnostic techniques, such as reverse transcription PCR (RT-PCR) and fluorescence in situ hybridization (FISH), have become important tools for evaluating pediatric soft tissue tumors. By detecting characteristic fusion genes, these techniques have greatly increased the diagnostic accuracy of histopathological classification. One of the exciting promises of the development of these molecular techniques is their ability to detect micrometastasis and minimal residual disease. Monitoring of minimal residual disease in pediatric soft tissue tumors by quantitative RT-PCR may provide important prognostic information. Furthermore, the potential development of targeted therapy based on the understanding of the molecular pathology of a specific soft tissue tumor may complement existing treatments and improve disease outcome.
在过去十年中，分子遗传学在儿科软组织肿瘤中的应用有了巨大的发展。这使得人们发现了一些新基因，增进了我们对肿瘤发生的理解。此外，这些发现还确定了用于患者管理的诊断和潜在预后因素。分子诊断技术，如逆转录聚合酶链反应（RT-PCR）和荧光原位杂交（FISH），已成为评估儿科软组织肿瘤的重要工具。通过检测特征性融合基因，这些技术大大提高了组织病理学分类的诊断准确性。这些分子技术发展的一个令人兴奋的前景是它们能够检测微转移和微小残留病。通过定量RT-PCR监测儿科软组织肿瘤中的微小残留病可能会提供重要的预后信息。此外，基于对特定软组织肿瘤分子病理学的理解而开发的靶向治疗，可能会补充现有治疗方法并改善疾病预后。
