Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms
Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms
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DOI：
10.1007/s00776-007-1215-1
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发表时间：
2008-05-01
影响因子：
1.7
通讯作者：
Bridge, Julia A.
中科院分区：
文献类型：
--
作者：
Bridge, Julia A.
阐明骨和软组织肿瘤的发病机制一直具有挑战性，因为不同间质肿瘤亚型的遗传事件是独特的。然而，随着细胞遗传学和分子遗传学技术的进步，已经取得了巨大的进步。结果，相关癌基因和肿瘤抑制基因已被鉴定和定位，并且新的基因构建体及其在肉瘤发生过程中易位产生的蛋白质产物已被确定。骨和软组织肿瘤（例如尤文氏肉瘤）的肿瘤特异性遗传标记的鉴定为诊断的制定和细胞起源的解析增加了新的维度。许多遗传标记似乎具有预后价值，确定其作为特定治疗靶点的潜在应用的研究正在进行中。用于识别间充质肿瘤特异性异常的三种常见遗传学方法是传统细胞遗传学、分子细胞遗传学（荧光原位杂交或 FISH）和逆转录聚合酶链反应（RT-PCR）分析。在本教学讲座中，重点放在每种技术的实际应用上，包括它们的优点和局限性。其中包括某些案例演示，以说明传统组织病理学和遗传学方法的整合，并作为有用的范例。
Elucidation of the pathogenesis of bone and soft tissue tumors has been challenging because the genetic events are unique for the different mesenchymal tumor subtypes. However, enormous progress has been achieved with the advancement of cytogenetic and molecular genetic techniques. As a result, relevant oncogenes and tumor suppressor genes have been identified and localized, and new gene constructs and their protein products that result from translocations during sarcoma genesis have been determined. The identification of tumor-specific genetic markers for bone and soft tissue tumors, such as Ewing’s sarcoma, has added a new dimension to the formulation of a diagnosis and the resolution of cellular origin. Many of the genetic markers appear to have prognostic value, and studies to determine their potential applications as specific therapeutic targets are in progress. Three common genetic approaches used to identify mesenchymal tumorspecific abnormalities are conventional cytogenetic, molecular cytogenetic (fluorescence in situ hybridization, or FISH) and reverse transcription-polymerase chain reaction (RT-PCR) analyses. In this instructional lecture, emphasis is placed on the practical applications of each of these techniques, including their advantages and limitations. Certain case presentations are included to illustrate the integration of traditional histopathological and genetic approaches and serve as useful paradigms.