Montrone Michele, Longo Vito, Catino Annamaria, Pizzutilo Pamela, Galetta Domenico
IRCCS Istituto Tumori Giovanni Paolo II, SSD Oncologia Medica per la Patologia Toracica, Bari.
Recenti Prog Med. 2021 Jan;112(1):10e-13e. doi: 10.1701/3525.35132.
Modern gene profiling techniques have allowed in recent years considerable progresses in the knowledge of molecular alterations in the context of non-small cell lung cancer (NSCLC). In some cases, these alterations have been recognized as having a pathogenic role and targeted therapies capable of inhibiting tumor proliferation by selective and specific blocking of the enzymatic activity of the related abnormal proteins have been developed. This has made it possible to improve the effectiveness of the treatments by minimizing toxicity. Today it is essential to apply Comprehensive Genomic Profiling methods also in clinical practice, in order to allow the best treatment available for each patient, possibly also in the context of clinical trials. Below we report the clinical history of a patient with advanced stage adenocarcinoma of the lung with molecular diagnosis of RET fusion, treated with pralsetinib with excellent clinical and radiological response and good tolerability. This clinical case emphasizes the importance of the broader molecular profiling in patients with advanced NSCLC (especially for non-squamous histology) from the diagnosis before starting first-line treatment.
近年来，现代基因谱分析技术在非小细胞肺癌（NSCLC）背景下的分子改变知识方面取得了相当大的进展。在某些情况下，这些改变已被认为具有致病作用，并且已经开发出能够通过选择性和特异性阻断相关异常蛋白的酶活性来抑制肿瘤增殖的靶向疗法。这使得通过最小化毒性来提高治疗效果成为可能。如今，在临床实践中应用综合基因组谱分析方法至关重要，以便为每位患者提供最佳可用治疗，甚至可能在临床试验背景下也是如此。以下我们报告一例晚期肺腺癌患者的临床病史，该患者经分子诊断为RET融合，接受普拉替尼治疗后获得了出色的临床和放射学反应以及良好的耐受性。该临床病例强调了在晚期NSCLC患者（尤其是非鳞状组织学患者）从一线治疗开始前的诊断中进行更广泛分子谱分析的重要性。
