Schmitt Fernando, Di Lorito Alessia, Vielh Philippe
Medical Faculty of Porto University, Porto, Portugal.
Unit of Molecular Pathology of Institute of Molecular Pathology and Immunology of University of Porto, Porto, Portugal.
Front Med (Lausanne). 2021 Jul 6;8:643113. doi: 10.3389/fmed.2021.643113. eCollection 2021.
Cytology samples are suitable for the study of genotypic and phenotypic changes observed in different tumors. Being a minimally invasive technique, cytology sampling has been used as an acceptable alternative to track the alterations associated with tumor progression. Although the detection of gene mutations is well-established on cytology, in the last few years, gene fusion detections are becoming mandatory, especially in some tumor types such as lung cancer. Different technologies are available such as immunocytochemistry, fluorescence hybridization, reverse transcription-polymerase chain reaction, and massive parallel sequencing approaches. Considering that many new drugs targeted fusion proteins, cytological samples can be of use to detect gene fusions in solid and lymphoproliferative tumor patients. In this article, we revised the use of several techniques utilized to check gene fusions in cytological material.
细胞学样本适用于研究在不同肿瘤中观察到的基因型和表型变化。作为一种微创技术，细胞学采样已被用作追踪与肿瘤进展相关改变的可接受替代方法。尽管在细胞学上检测基因突变已经很成熟，但在过去几年中，基因融合检测正变得必不可少，尤其是在某些肿瘤类型如肺癌中。有多种技术可供使用，如免疫细胞化学、荧光杂交、逆转录聚合酶链反应和大规模平行测序方法。鉴于许多新药靶向融合蛋白，细胞学样本可用于检测实体瘤和淋巴增殖性肿瘤患者的基因融合。在本文中，我们回顾了用于检查细胞学材料中基因融合的几种技术的应用。
