A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review
Non-small-cell lung cancer (NSCLC) exemplifies how biomarker-driven therapies can alter the natural course of a disease. Clinically significant mutations in the epidermal growth factor receptor (EGFR) in NSCLC include a spectrum of substitutions, deletions, and insertions, mainly affecting exons 18...
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Elsevier
2025-06-01
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| Series: | Current Problems in Cancer: Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666621925000262 |
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| author | Laura Gutiérrez-Sainz Rocío Rosas-Alonso Carlos Rodríguez-Antolín Carmen Rodríguez-Jiménez Isabel Esteban Rodríguez Rafael Peláez Oliver Higuera Gómez Julia Villamayor Patricia Cruz-Castellanos Alberto Peláez-García Inmaculada Ibáñez de Cáceres Javier de Castro Carpeño |
| author_facet | Laura Gutiérrez-Sainz Rocío Rosas-Alonso Carlos Rodríguez-Antolín Carmen Rodríguez-Jiménez Isabel Esteban Rodríguez Rafael Peláez Oliver Higuera Gómez Julia Villamayor Patricia Cruz-Castellanos Alberto Peláez-García Inmaculada Ibáñez de Cáceres Javier de Castro Carpeño |
| author_sort | Laura Gutiérrez-Sainz |
| collection | DOAJ |
| description | Non-small-cell lung cancer (NSCLC) exemplifies how biomarker-driven therapies can alter the natural course of a disease. Clinically significant mutations in the epidermal growth factor receptor (EGFR) in NSCLC include a spectrum of substitutions, deletions, and insertions, mainly affecting exons 18 to 21. The most common EGFR mutations involve exon 19 deletions (19del) or the exon 21 L858R substitution, which are typically sensitive to tyrosine kinase inhibitors (TKIs) such as osimertinib. However, 10 % to 20 % of patients harbor uncommon EGFR mutations, which exhibit variable responses to TKIs. Notably, some rare exon 19 mutations are often undetectable by conventional polymerase chain reaction (PCR) assays. In this case report, we describe an NSCLC patient with a novel exon 19 EGFR mutation identified by next-generation sequencing (NGS), which was not detected by commercial PCR assays. The patient experienced a modest response to osimertinib. We also provide a review of the current literature regarding these uncommon EGFR mutations. |
| format | Article |
| id | doaj-art-1308f063f9cd4bb9a50da683ccc38a70 |
| institution | OA Journals |
| issn | 2666-6219 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Current Problems in Cancer: Case Reports |
| spelling | doaj-art-1308f063f9cd4bb9a50da683ccc38a702025-08-20T02:17:09ZengElsevierCurrent Problems in Cancer: Case Reports2666-62192025-06-011810037410.1016/j.cpccr.2025.100374A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature ReviewLaura Gutiérrez-Sainz0Rocío Rosas-Alonso1Carlos Rodríguez-Antolín2Carmen Rodríguez-Jiménez3Isabel Esteban Rodríguez4Rafael Peláez5Oliver Higuera Gómez6Julia Villamayor7Patricia Cruz-Castellanos8Alberto Peláez-García9Inmaculada Ibáñez de Cáceres10Javier de Castro Carpeño11Experimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Medical Oncology Department, La Paz University Hospital, IdiPAZ, Madrid, Spain; Corresponding author at: La Paz University Hospital, IdiPAZ, Paseo de la Castellana 261, 28046, Madrid, Spain.Experimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, 28046, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, 28046, Madrid, SpainGenetics of Metabolic Diseases, Departments of Genetics, La Paz University Hospital, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Pathology Department, La Paz University Hospital, 28046, Madrid, SpainLaboratorio de Química Orgánica y Farmacéutica, Departamento de Ciencias Farmacéuticas, Facultad de Farmacia, Universidad de Salamanca, Campus Miguel de Unamuno, 37007, Salamanca, SpainMedical Oncology Department, La Paz University Hospital, IdiPAZ, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Medical Oncology Department, La Paz University Hospital, IdiPAZ, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Medical Oncology Department, La Paz University Hospital, IdiPAZ, Madrid, Spain; Medical Oncology Department, Hospital General Universitario de Ciudad Real, Ciudad Real, SpainMolecular Pathology and Therapeutic Targets Group, La Paz University Hospital, IdiPAZ, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, 28046, Madrid, SpainExperimental Therapies and Novel Biomarkers in Cancer, Hospital La Paz Institute for Health Research-IdiPAZ, Madrid, Spain; Medical Oncology Department, La Paz University Hospital, IdiPAZ, Madrid, Spain; CIBERONC, Instituto de Salud Carlos III, Madrid, SpainNon-small-cell lung cancer (NSCLC) exemplifies how biomarker-driven therapies can alter the natural course of a disease. Clinically significant mutations in the epidermal growth factor receptor (EGFR) in NSCLC include a spectrum of substitutions, deletions, and insertions, mainly affecting exons 18 to 21. The most common EGFR mutations involve exon 19 deletions (19del) or the exon 21 L858R substitution, which are typically sensitive to tyrosine kinase inhibitors (TKIs) such as osimertinib. However, 10 % to 20 % of patients harbor uncommon EGFR mutations, which exhibit variable responses to TKIs. Notably, some rare exon 19 mutations are often undetectable by conventional polymerase chain reaction (PCR) assays. In this case report, we describe an NSCLC patient with a novel exon 19 EGFR mutation identified by next-generation sequencing (NGS), which was not detected by commercial PCR assays. The patient experienced a modest response to osimertinib. We also provide a review of the current literature regarding these uncommon EGFR mutations.http://www.sciencedirect.com/science/article/pii/S2666621925000262Non-small-cell lung cancer (NSCLC)Epidermal growth factor receptor (EGFR) mutationsnovel exon 19 EGFR mutation |
| spellingShingle | Laura Gutiérrez-Sainz Rocío Rosas-Alonso Carlos Rodríguez-Antolín Carmen Rodríguez-Jiménez Isabel Esteban Rodríguez Rafael Peláez Oliver Higuera Gómez Julia Villamayor Patricia Cruz-Castellanos Alberto Peláez-García Inmaculada Ibáñez de Cáceres Javier de Castro Carpeño A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review Current Problems in Cancer: Case Reports Non-small-cell lung cancer (NSCLC) Epidermal growth factor receptor (EGFR) mutations novel exon 19 EGFR mutation |
| title | A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review |
| title_full | A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review |
| title_fullStr | A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review |
| title_full_unstemmed | A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review |
| title_short | A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review |
| title_sort | novel exon 19 egfr mutation in a patient with lung adenocarcinoma a case report and literature review |
| topic | Non-small-cell lung cancer (NSCLC) Epidermal growth factor receptor (EGFR) mutations novel exon 19 EGFR mutation |
| url | http://www.sciencedirect.com/science/article/pii/S2666621925000262 |
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