Department of Pathology, Rutgers University, New Jersey Medical School, Newark, NJ, USA.
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Arch Med Res. 2020 Nov;51(8):784-798. doi: 10.1016/j.arcmed.2020.08.004. Epub 2020 Aug 29.
Lung carcinoma is one of the most common human cancers and is estimated to have an incidence of approximately 2 million new cases per year worldwide with a 20% mortality rate. Lung cancer represents one of the leading causes of cancer related death in the world. Of all cancer types to affect the pulmonary system, non-small cell lung carcinoma comprises approximately 80-85% of all tumors. In the past few decades cytogenetic and advanced molecular techniques have helped define the genomic landscape of lung cancer, and in the process, revolutionized the clinical management and treatment of patients with advanced non-small cell lung cancer. The discovery of specific, recurrent genetic abnormalities has led to the development of targeted therapies that have extended the life expectancy of patients who develop carcinoma of the lungs. Patients are now routinely treated with targeted therapies based on identifiable molecular alterations or other predictive biomarkers which has led to a revolution in the field of pulmonary pathology and oncology. Numerous different testing modalities, with various strengths and limitations now exist which complicate diagnostic algorithms, however recently emerging consensus guidelines and recommendations have begun to standardize the way to approach diagnostic testing of lung carcinoma. Herein we provide an overview of the molecular genetic landscape of non-small cell lung carcinoma, with attention to those clinically relevant alterations which drive management, as well as review current recommendations for molecular testing.
肺癌是最常见的人类癌症之一,据估计,全球每年新发病例约为 200 万例,死亡率为 20%。肺癌是全球癌症相关死亡的主要原因之一。在所有影响肺部的癌症类型中,非小细胞肺癌约占所有肿瘤的 80-85%。在过去的几十年中,细胞遗传学和先进的分子技术帮助定义了肺癌的基因组图谱,并在这个过程中彻底改变了晚期非小细胞肺癌患者的临床管理和治疗。特定的、反复出现的遗传异常的发现导致了靶向治疗的发展,延长了患有肺癌的患者的预期寿命。现在,患者通常根据可识别的分子改变或其他预测性生物标志物进行靶向治疗,这在肺部病理学和肿瘤学领域引发了一场革命。现在有许多不同的测试方式,具有不同的优缺点,这使得诊断算法变得复杂,但最近出现的共识指南和建议已经开始标准化肺癌诊断测试的方法。本文概述了非小细胞肺癌的分子遗传学特征,重点关注那些驱动管理的临床相关改变,并回顾了当前的分子测试推荐。