Tímár József, Méhes Gábor, Vass László
II. Sz. Patológiai Intézet, Semmelweis Egyetem, Budapest, Hungary.
Patológiai Intézet, Debreceni Egyetem, Debrecen, Hungary.
Magy Onkol. 2020 Sep 23;64(3):183-189. Epub 2020 Aug 10.
Molecular classification of lung cancer developed in the past decades to the level where even the rare genetic alterations are included. Unfortunately, adenocarcinoma benefited from this development almost exclusively. Furthermore, the tumor-agnostic novel therapy indications influence the molecular diagnostics of lung cancer including microsatellite status, tumor mutation burden or NTRK fusion gene determinations. On the other hand, the still low resection rate of lung cancer and limited availability of tumor tissue for diagnosis opened the way of routine use of liquid biopsy technologies. The routine use of target therapies triggered the development of various genetic resistance mechanisms, the monitoring of which gradually became a standard of monitoring of the disease. Beside the "targeted" diagnostics, multigene panel testing or whole exome sequencing are more frequent, resulting in a more complex genetic picture of lung cancer. This requires the categorization of genetic alterations into predictive levels for standard, investigational or hypothetic target therapies in the molecular pathology reports.
在过去几十年中，肺癌的分子分类发展到了甚至包括罕见基因改变的程度。不幸的是，这一发展几乎只让腺癌受益。此外，与肿瘤类型无关的新型治疗适应症影响着肺癌的分子诊断，包括微卫星状态、肿瘤突变负荷或NTRK融合基因检测。另一方面，肺癌仍然较低的切除率以及用于诊断的肿瘤组织可用性有限，为液体活检技术的常规使用开辟了道路。靶向治疗的常规使用引发了各种基因耐药机制的出现，对其监测逐渐成为疾病监测的标准。除了“靶向”诊断外，多基因检测板检测或全外显子测序更为常见，这使得肺癌的基因图谱更加复杂。这就需要在分子病理学报告中将基因改变分类为针对标准、研究性或假设性靶向治疗的预测水平。
