A novel point mutation in exon 20 of EGFR showed sensitivity to erlotinib

Background: Epidermal growth factor receptor (EGFR) gene was the major causative gene of lung cancer and also the specific treatment target. It is necessary to analyze the genotype and phenotype characters of patients. Methods: We investigated 1,034 lung cancer patients in this study. The collected clinicopathological parameters included gender, age at diagnosis, smoking status, pathological TNM stage, tumor morphology and location, visceral pleural invasion as well as histological type. Results: Almost 50% participants had EGFR mutations. L858R in exon 21 was the most common type.Concomitant mutation, 19 del and L858R, were detected in 20 patients. Compared to patients with exon 19 del or L858R mutations solely, they were inclined to have small size adenocarcinomas which occurred in bilateral and invaded the visceral pleura. The tyrosine kinases inhibitors (TKIs)-resistant mutation, insertions in exon 20, was detected in 11 patients. Conclusions: The summarized clinicopathological features will help clinicians to implement the feasible treatment plan.Keywords: Lung cancer; epidermal growth factor receptor (EGFR) gene; mutation; phenotype; genotype Submitted Jan 14, 2017. Accepted for publication Feb 16, 2017Feb 16, . doi: 10.21037/jtd.2017 View this article at: http://dx.doi.org/10.21037/jtd.2017.03.13 it also provides a specific therapeutic strategy. Tyrosine kinases inhibitors (TKIs) targeted to TK domain have been approved for the treatment of NSCLC (7,8). Several studies suggest that the application of TKIs improved response rates and progression-free survival of lung cancer patients with EGFR mutations (9,10). The sensitivity of lung cancer patients to TKIs is associated with the mutation type. Patients with deletions in exon 19 and L858R in exon 21 responded positively. In this respect, the detection of EGFR mutations is the premise to the treatment of lung cancer patients. But in clinic the quantity of biopsy samples were not enough to fulfill the entire mutation screening. The phenotypic traits summary could help clinicians make judgement beforehand. Furthermore, most previous studies on EGFR mutations mainly focused on lung adenocarcinoma, few studies have evaluated the EGFR mutations in other lung cancer type in large scale. In the current study, we analyzed the EGFR mutation spectrum in Chinese lung cancer patients and summarized the clinicopathological characters of patients with EGFR gene mutations. Methods Ethical approvalThis study was approved by the Institutional Review Board (IRB) of Shanghai Pulmonary Hospital affiliated Tongji University (No. 2014-016). Written informed consents were obtained from all participants. The methods were carried out in accordance with the approved guidelines. Patients and specimen collectionThe consecutive primary lung cancer patients who were admitted into the Shanghai Pulmonary Hospital affiliated Tongji University from Jun. 2014 to Oct. 2015 were recruited. No choose or correct was performed on patients' collection. None of these patients received any antican...

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“…It stretches from exon 18 to exon 24. In lung cancer, the EGFR mutation sites center on exons 18-21 (5 …”

Section: Introductionmentioning

confidence: 99%

Clinicopathological features of Chinese lung cancer patients with epidermal growth factor receptor mutation

et al. 2017

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“…Unfortunately, all patients had progression on TKI and a dismal survival. Although exon 20 mutations are considered to be TKI resistant, certain mutations have shown to respond to TKI 13. However, no such mutation was seen in our patients.…”

Section: Discussionmentioning

confidence: 51%

Epidermal growth factor receptor exon 20 mutation in lung cancer: types, incidence, clinical features and impact on treatment

Noronha¹,

Choughule²,

Patil³

et al. 2017

OTT

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Background There are limited data available on the treatment and outcome of epidermal growth factor receptor (EGFR) exon 20-mutated lung cancer patients. Hence, we planned an analysis of the demographic details, clinical profile and survival of lung cancer patients with exon 20 mutations. We compared our results to patients with EGFR tyrosine kinase inhibitor (TKI)-sensitizing activating and EGFR/anaplastic lymphoma kinase (ALK)-negative mutations. Methods This was a retrospective analysis of lung cancer patients who were treated at our center between January 2010 and August 2014. We reviewed the results of EGFR mutation testing by real-time polymerase chain reaction and Sanger sequencing. We also reviewed the data relating to baseline demographics, clinical profile, patient treatment and outcome measures in terms of response and overall survival (OS). Results A total of 580 patients fulfilled the selection criteria. In all, 227 (39.1%) patients had EGFR TKI-sensitizing activating mutations, 20 (3.4%) patients had exon 20 insertion mutations and 333 patients were EGFR/ALK mutation negative (57.5%). The median OS was 5 months (95% confidence interval [CI] 0.17–9.8 months) in exon 20 insertion mutations, 16.1 months (95% CI 12.8–19.5 months) in EGFR TKI-sensitizing activating mutations and 10 months (95% CI 7.9–12.1 months) in EGFR/ALK mutation-negative patients. The median OS was significantly better for the EGFR TKI-sensitizing activating mutation group ( P =0.000, log-rank test) and for the EGFR/ALK-negative group ( P =0.037, log-rank test) compared to the exon 20-mutated group. Conclusion Exon 20 mutation results in a poorer OS prognosis compared to EGFR- and ALK-negative patients and patients harboring EGFR TKI-sensitizing activating mutations. The incidence of de novo exon 20 insertions was 3.4%. Different types of exon mutations seem to have different outcomes.

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“…Xing et al 9 published a case report showing a good clinical response to erlotinib after platinum-based chemotherapies. In that case a mutation in exon 20 of EGFR in a Chinese male non-smoker was found.…”

Section: Discussionmentioning

confidence: 99%

Erlotinib Response in a Non-Small Cell Lung Cancer Patient with EGFR Exon 20 Mutation.

Korkmaz¹,

Artaç²,

Karaağaç³

et al. 2016

UHOD

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A novel point mutation in exon 20 of EGFR showed sensitivity to erlotinib

Cited by 7 publications

References 20 publications

Clinicopathological features of Chinese lung cancer patients with epidermal growth factor receptor mutation

Clinicopathological features of Chinese lung cancer patients with epidermal growth factor receptor mutation

Epidermal growth factor receptor exon 20 mutation in lung cancer: types, incidence, clinical features and impact on treatment

Erlotinib Response in a Non-Small Cell Lung Cancer Patient with EGFR Exon 20 Mutation.

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