Russano Marco
Oncologia Medica, Policlinico Universitario Campus Bio-Medico di Roma.
Recenti Prog Med. 2021 Jan;112(1):5e-9e. doi: 10.1701/3525.35131.
Advances in cancer biology research led to the identification of new molecular drivers in non-small cell lung cancer. These alterations should be searched especially in young and never-smoker patients, in order to ensure access to targeted therapies. In particular, RET mutations occur in 1-2% of lung adenocarcinomas and represent the molecular target of innovative treatments such as pralsetinib. The Next Generation Sequencing provides a comprehensive genomic profiling both on tissue and blood sampling. The liquid biopsy could be extremely advantageous, as it is a simple, non-invasive and repeatable test. We report the case of a non-smoker woman with metastatic lung adenocarcinoma unresponsive to chemotherapy and immunotherapy. RET mutation (RET-KIF5B fusion) was found by liquid biopsy. The patient started therapy with pralsetinib obtaining an early radiological response and a significant clinical benefit.
癌症生物学研究的进展促使人们在非小细胞肺癌中发现了新的分子驱动因素。尤其应在年轻和从不吸烟的患者中寻找这些改变，以确保他们能够接受靶向治疗。特别是，RET突变发生在1%-2%的肺腺癌中，是普拉替尼等创新治疗的分子靶点。下一代测序技术可对组织和血液样本进行全面的基因组分析。液体活检可能极具优势，因为它是一种简单、无创且可重复的检测方法。我们报告了一例转移性肺腺癌的不吸烟女性患者，该患者对化疗和免疫治疗均无反应。通过液体活检发现了RET突变（RET-KIF5B融合）。患者开始使用普拉替尼治疗，早期获得了影像学缓解和显著的临床获益。
