Tumor Heterogeneity and Drug Resistance Mutations Using ctDNA in Metastatic EGFR Mutation-Positive Lung Adenocarcinoma: A Case Report

• Main Authors: Sun J, Sun G, Lu K, Xu L, Qu X, Cheng Y, Pan E, Yang P, Wu T, Zhang Y, He H
• Format: Article in Journal/Newspaper
• Language: English
• Published: Dove Medical Press 2022
• Subjects: tumor heterogeneity; circulating tumor dna; ctdna; resistance mutation; next-generation sequencing; Neoplasms. Tumors. Oncology. Including cancer and carcinogens; RC254-282; Evenki; Zhongshan
• Online Access: https://doaj.org/article/9faea4c78a094993b1bdd96dc8912c02

Jinghua Sun,1,* Ge Sun,1,* KeMou Lu,1 Lingling Xu,1 XiaoNa Qu,1 Ye Cheng,1 Evenki Pan,2 Peng Yang,2 Tingting Wu,2 Yang Zhang,1 HongMei He1 1The Second Affiliated Hospital of Dalian Medical University, Dalian, People’s Republic of China; 2Nanjing Geneseeq Technology Inc., Nanjing, People’s Republic of China*These authors contributed equally to this workCorrespondence: Yang Zhang; HongMei He, The Second Affiliated Hospital of Dalian Medical University, Dalian, No. 467, Zhongshan Road, Shahekou District, Dalian, People’s Republic of China, Email [e-mail]; [e-mail]: For advanced non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations, EGFR tyrosine kinase inhibitors (TKIs) have been approved as the standard therapy and shown clinical benefits. However, the emergence of drug resistance is inevitable. Tumor heterogeneity was often observed by imaging method to evaluate the progression of primary and metastatic lesions. Tissue biopsy was also unlikely to accurately capture the complete genomic landscape from a single tissue sample. Recently, genomic characterization of circulating tumor DNA (ctDNA) offer an opportunity to reveal the clonal dynamics throughout the course of a patient’s illness and provide comprehensive genomic landscape of tumors to assess tumor heterogeneity. Here, we reported a lung adenocarcinoma (LADC) with EGFR mutations who was treated with sequential EGFR TKIs. The CT image of the patient’s different lesions suggested that dynamic change of tumor heterogeneity had occurred. Targeted next-generation sequencing (NGS) analysis of ctDNA revealed dynamic changes of mutational profiles between the primary and metastatic tumors to discover tumor evolution to guide treatment decision-making.Keywords: tumor heterogeneity, circulating tumor DNA, ctDNA, resistance mutation, next-generation sequencing, NGS