Lung squamous cell carcinoma with rare epidermal growth factor receptor mutation G719X: a case report and literature review

Bi, Huanhuan; Wu, Jieqiong; Ding, Xiaoqian; Guo, Chenyu; Miura, Satoru; Arulananda, Surein; Wang, Hongmei

doi:10.21037/atm-21-6653

Cited by 3 publications

(3 citation statements)

References 38 publications

(46 reference statements)

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“…The patient died 13 months after the surgical resection. Reference: The complex mutation has been previously described in a few reports ( 12 , 13 ). In vitro data suggest that the coexistence of the E709A + G719C mutation confers resistance to adjuvant treatment, including EGFR-TKIs ( 14 ).…”

Section: Resultsmentioning

confidence: 99%

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

Machado-Rugolo

Baldavira

Prieto

et al. 2022

Braz J Med Biol Res

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The common epidermal growth factor receptor (EGFR) mutations, such as the L858R point mutation in exon 21 and the in-frame deletional mutation in exon 19, have been definitively associated with response to EGFR-tyrosine kinase inhibitors (EGFR-TKI). However, the clinical outcome and response to treatment for many other rarer mutations are still unclear. In this study, we report the results of Brazilian patients in stage IB-IIIA non-small cell lung cancer (NSCLC) following complete resection with minimal residual disease and EGFR mutations treated with adjuvant chemotherapy and/or EGFR-TKIs. The frequency of EGFR mutations was investigated in 70 cases of early stage NSCLC. Mutations in exons 18 and 20, uncommon mutations in exons 19 and 21, as well as in exons 3, 7, 14, 16, 22, 27, and 28, and/or the presence of different mutations in a single tumor (complex mutations) are considered rare. EGFR mutations were detected in 23 tumors (32.9%). Fourteen cases carried rare mutations and were treated with platinum-based chemotherapy and two cases were treated with erlotinib. The clinical outcome is described case by case with references to the literature. Notably, we found two rare EGFR mutations and one of them with an unknown response to chemotherapy and/or EGFR-TKIs. We have provided complementary information concerning the clinical outcome and treatment of patients with early stage NSCLC for several rare EGFR mutations not previously or only rarely reported. Description of cases harboring rare mutations can support the decision-making process in this subset of patients.

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Section: Resultsmentioning

confidence: 99%

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

Machado-Rugolo

Baldavira

Prieto

et al. 2022

Braz J Med Biol Res

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“…Recent research reported a case of LUSC with an EGFR G719X mutation. The patient underwent EGFR -TKI treatment and achieved an overall survival duration of 25.4 months ( 18 ). Mutations in KRAS and EGFR are usually mutually exclusive, but when coexistent, KRAS mutations may lead to resistance to EGFR inhibitors ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: A lung squamous cell carcinoma patient with a rare EGFR G719X mutation and high PD-L1 expression showed a good response to anti-PD1 therapy

Zhu,

Bao,

Shi

et al. 2024

Front. Oncol.

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Lung cancer treatment has transitioned fully into the era of immunotherapy, yielding substantial improvements in survival rate for patients with advanced non-small cell lung cancer (NSCLC). In this report, we present a case featuring a rare epidermal growth factor receptor (EGFR) mutation accompanied by high programmed death-ligand 1 (PD-L1) expression, demonstrating remarkable therapeutic efficacy through a combination of immunotherapy and chemotherapy. A 77-year-old male with no family history of cancer suffered from upper abdominal pain for more than half months in August 2020 and was diagnosed with stage IV (cT3N3M1c) lung squamous cell carcinoma (LUSC) harboring both a rare EGFR p.G719C mutation and high expression of PD-L1 (tumor proportion score [TPS] = 90%). Treatment with the second-generation targeted therapy drug Afatinib was initiated on September 25, 2020. However, resistance ensued after 1.5 months of treatment. On November 17, 2020, immunotherapy was combined with chemotherapy (Sintilimab + Albumin-bound paclitaxel + Cisplatin), and a CT scan conducted three months later revealed significant tumor regression with a favorable therapeutic effect. Subsequently, the patient received one year of maintenance therapy with Sintilimab, with follow-up CT scans demonstrating subtle tumor shrinkage (stable disease). This case provides evidence for the feasibility and efficacy of immunotherapy combined with chemotherapy in the treatment of EGFR-mutated and PD-L1 highly expressed LUSC.

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“…Non-small cell lung cancer is the major subtype of lung cancer. Lung squamous cell carcinoma (LUSC) is a most frequent subtype of non-small cell lung cancer and accounts for approximately 40% of diagnosed cases of lung cancer each year (2). Currently, the main treatment strategies for LUSC include surgery, radiotherapy, and chemotherapy (3).…”

Section: Introductionmentioning

confidence: 99%

Identification and in vitro validation of diagnostic and prognostic biomarkers for lung squamous cell carcinoma

Zhao¹,

Yuan²,

He³

et al. 2022

J Thorac Dis

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Background:The aim of the present study was to find diagnostic and prognostic biomarkers for lung squamous cell carcinoma (LUSC) and to validate key biomarkers in vitro.Methods: RNA sequencing was used to identify differentially expressed mRNAs (DEmRNAs) and differentially expressed long non-coding RNAs (DElncRNAs) in LUSC tissues. RNA sequencing results were validated using a published dataset. Diagnostic and prognostic values of candidate genes were evaluated by receiver-operating characteristic (ROC) curve analysis and survival analysis, respectively. To determine the effect of MIR205HG in LUSC, MIR205HG expression was knocked down in NCI-H520 cells. 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay and Transwell assay were used to respectively detect the effect of MIR205HG on cell proliferation and migration. Results: In total, 1,946 DEmRNAs and 428 DElncRNAs were identified in LUSC compared with normal tissues. A total of 851 DElncRNA-DEmRNA co-expression pairs were obtained. With the exception of NEAT1, MCM2, SERPINB5, ITGB8, CASC19, and MIR205HG were upregulated in LUSC. ROC curve analysis indicated that MCM2, SERPINB5, ITGB8, CASC19, and MIR205HG could predict LUSC. Survival analysis suggested that SERPINB5, NEAT1, and MIR205HG had potential prognostic value for LUSC.MIR205HG knockdown inhibited cell proliferation and migration, and significantly reduced the expression of ITGB8. Conclusions:The findings of the present study could help determine the pathogenesis of LUSC and provide new and accurate therapeutic targets for its treatment.

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Lung squamous cell carcinoma with rare epidermal growth factor receptor mutation G719X: a case report and literature review

Cited by 3 publications

References 38 publications

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

Case report: A lung squamous cell carcinoma patient with a rare EGFR G719X mutation and high PD-L1 expression showed a good response to anti-PD1 therapy

Identification and in vitro validation of diagnostic and prognostic biomarkers for lung squamous cell carcinoma

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