Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Diagn Cytopathol. 2023 Jan;51(1):12-25. doi: 10.1002/dc.25013. Epub 2022 Jul 9.
The diagnosis of soft tissue tumors is challenging, especially when the evaluable material procured is limited. As a result, diagnostic ancillary testing is frequently needed. Moreover, there is a trend in soft tissue pathology toward increasing use of molecular results for tumor classification and prognostication. Hence, diagnosing newer tumor entities such as CIC-rearranged sarcoma explicitly requires molecular testing. Molecular testing can be accomplished by in situ hybridization, polymerase chain reaction, as well as next generation sequencing, and more recently such testing can even be accomplished leveraging an immunohistochemical proxy.
This review evaluates the role of different molecular tests in characterizing soft tissue tumors belonging to various cytomorphologic categories that have been sampled by small biopsy and cytologic techniques.
软组织肿瘤的诊断颇具挑战性，尤其是在可评估的取材有限时。因此，通常需要辅助诊断检测。此外，软组织病理学领域有一个趋势，即越来越多地将分子结果用于肿瘤分类和预后判断。因此，明确诊断 CIC 重排肉瘤等新型肿瘤实体需要进行分子检测。分子检测可通过原位杂交、聚合酶链反应以及下一代测序等方法实现，最近甚至可以通过免疫组织化学代理来进行此类检测。
本文评估了不同分子检测在对通过小活检和细胞学技术采集的具有不同细胞形态学特征的各种软组织肿瘤进行特征描述方面的作用。
