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用于间充质肿瘤诊断和治疗的遗传学

Genetics for the diagnosis and treatment of mesenchymal tumors.

作者信息

Lasota Jerzy, Fanburg-Smith Julie C

机构信息

Department of Soft Tissue and Orthopedic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA.

出版信息

Semin Musculoskelet Radiol. 2007 Sep;11(3):215-30. doi: 10.1055/s-2008-1038311.

Abstract

Cytogenetics and molecular genetics play an important role in the diagnosis of soft tissue and bone mesenchymal tumors. This update focuses on cytogenetic and molecular genetic techniques commonly used for evaluation of mesenchymal tumors, including karyotyping, fluorescent in situ hybridization, and polymerase chain reaction. Examples of different techniques, inherent technical problems, and interpretation of the results are discussed. Additionally, limitations related to the type of material available for genotyping (fresh, frozen, or formalin-fixed paraffin-embedded tissue) are covered. Cytogenetic and molecular genetic alterations identified in various mesenchymal tumors are often valuable for diagnosis, prognosis, and treatment strategies.

摘要

细胞遗传学和分子遗传学在软组织和骨间叶性肿瘤的诊断中发挥着重要作用。本综述重点关注常用于评估间叶性肿瘤的细胞遗传学和分子遗传学技术,包括核型分析、荧光原位杂交和聚合酶链反应。文中讨论了不同技术的实例、固有的技术问题以及结果解读。此外,还涵盖了与用于基因分型的材料类型(新鲜、冷冻或福尔马林固定石蜡包埋组织)相关的局限性。在各种间叶性肿瘤中鉴定出的细胞遗传学和分子遗传学改变通常对诊断、预后和治疗策略具有重要价值。

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