Next generation sequencing and molecular imaging identify EGFR mutation and amplification in a glioblastoma multiforme patient treated with an EGFR inhibitor: a case report

// Ke Zhou 1,3,* , Hui Yao 1,* , Xuewen Zhang 1 , Jiangang Liu 1 , Zhenyu Qi 1 , Xueshun Xie 1 , Xiaoting Xu 2 , Youxin Zhou 1 , Zhengquan Yu 1 , Zhong Wang 1 , Yanjun Che 3 and Yulun Huang 1 1 Department of Neurosurgery and Brain and Nerve Research Laboratory, The First Affiliated Hospital of Soochow University, Suzhou, China 2 Department of Radiotherapy, The First Affiliated Hospital of Soochow University, Suzhou, China 3 Department of Neurosurgery, The Jingjiang People’s Hospital, Taizhou, China * These authors have contributed equally to this work Correspondence to: Yulun Huang, email: // Yanjun Che, email: // Keywords : EGFR mutation; glioblastoma; molecular image; erlotinib; next-generation sequencing Received : January 16, 2017 Accepted : April 14, 2017 Published : May 24, 2017 Abstract Epidermal growth factor receptor (EGFR) mutations and amplifications are frequently reported in glioblastoma multiforme (GBM) patients. In this case report, we utilize next-generation sequencing (NGS) and EGFR molecular imaging to investigate intratumoral heterogeneity in a male patient presenting with GBM. Further, we describe the patient’s clinical course as well as outcomes of targeted EGFR therapy with erlotinib, an EGFR tyrosine kinase inhibitor (TKI). NGS demonstrated the presence of an EGFR mutation and amplification in our patient. Molecular imaging revealed a heterogeneous expression pattern of EGFR in the frontal and temporal lobes. This patient briefly responded to erlotinib therapy. However, the patient relapsed and died from progressive neurological deterioration. Partial response and acquired secondary resistance may be attributed to intratumoral heterogeneity. Combination of NGS and EGFR molecular imaging may be helpful in understanding intratumoral molecular heterogeneity and may aid in developing individualized GBM treatments, thereby improving outcomes.