Hangzhou Repugene Technology Co., Ltd. is a high-tech advanced biomedical research and development enterprise with the team of Dr. Haigui.
Case Study|Rip detection found a rare mutation in EGFR to expand the EGFR-TKI mutation spectrum
EGFR mutation is one of the important mechanisms of non-small cell lung cancer (NSCLC). The NCCN guidelines clearly indicate that there is a significant correlation between EGFR mutation and patient sensitivity to tyrosine kinase inhibitors. It is strongly recommended to perform mutation detection during diagnosis and treatment. EGFR mutations mainly occur in exons 18-21, of which 19 exon deletion mutations and exon 21 L858R mutations account for more than 80% of all EGFR mutations, which are common pathogenic mutations.
The Rip gene found a patient with a rare mutation in EGFR and a positive response to EGFR-generation TKI ectinib. The results of this study, recently published in Medicine, may expand the EGFR mutation profile for NKI treatment in TSCLC. .
The patient is 80 years old and has a clinical diagnosis of non-small cell lung cancer with bone metastasis and lymphatic metastasis. He has diabetes, hypertension, and chronic obstructive pulmonary disease. Hepatic biopsy is used to detect ctDNA because it is difficult to obtain surgical tissue. . The EGFR p.A289V (c.866C>T) mutation was found in the test data, and the mutation rate was 0.61%.
According to the actual situation of patients, the targeted drug for EGFR gene, ectinib (125mg, three times a day), was used clinically, and zoledronic acid injection and radiotherapy were performed for bone metastasis and vertebral metastasis.
A month later, the volume of the tumor and the mediastinal lymph nodes were slightly reduced, and the pain caused by bone metastasis was also greatly alleviated. After 5 months, the tumor volume was significantly reduced (as shown below), and the volume of the primary tumor was reduced by 60% compared to the baseline level at which treatment started 5 months later.
This is the first time that patients with EGFR p.A289V (c.866C>T) mutations have been positively responded to ectinib in non-small cell lung cancer. The results of this genetic test may expand the generation of EGFR-TKI in NSCLC. Applicable people in the middle.
More information on EGFR p.A289V (c.866C>T) mutation
The EGFR p.A289V (c.866C>T) mutation is located on exon 7 of the EGFR gene and encodes the extracellular domain amino acids of the EGFR protein (see figure below). To date, according to published studies or tumor databases (such as the Cancer Genome Atlas and the International Association of Cancer Genome), this mutation has been reported to inhibit tyrosine kinase only in malignant gliomas, low-grade gliomas, and head and neck cancers. Agents (TKIs) respond. The effect of this mutation on TKI has not been supported by sufficient evidence for non-small cell lung cancer.
The article is excerpted from "Nonsmall cell lung cancer with rare exon 7 p. A289V mutation in the EGFR gene responds to Icotinib treatment". In December 2018, Professor Lu Donglai, Professor Lu Lin, Professor Su Xuejiao, and Professor Dai Limeng published online in Medicine®. 》.