RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution?
<b>Background and Clinical Significance:</b> Molecular testing plays a crucial role in lung cancer diagnosis and management. While single-gene tests (SGTs) remain an important diagnostic tool, developments in novel methods such as next generation sequencing (NGS) provide a more precise m...
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| Format: | Article |
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MDPI AG
2025-03-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/15/7/842 |
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| author | Piotr Piekarczyk Urszula Lechowicz Janusz Szopiński Mateusz Polaczek Katarzyna Błasińska Katarzyna Modrzewska |
| author_facet | Piotr Piekarczyk Urszula Lechowicz Janusz Szopiński Mateusz Polaczek Katarzyna Błasińska Katarzyna Modrzewska |
| author_sort | Piotr Piekarczyk |
| collection | DOAJ |
| description | <b>Background and Clinical Significance:</b> Molecular testing plays a crucial role in lung cancer diagnosis and management. While single-gene tests (SGTs) remain an important diagnostic tool, developments in novel methods such as next generation sequencing (NGS) provide a more precise mutational profile and enable the targeted treatment of a larger scope of mutation-driven cancers. <b>Case presentation:</b> We present a case of a patient with a rare <i>EGFR</i> variant lung adenocarcinoma, who was misdiagnosed using a SGT. The initial treatment with immunotherapy was unsuccessful. <b>Conclusions:</b> The patient could have benefited if NGS had been performed instead of traditional real-time polymerase chain reaction (RT-PCR) and if adequate tyrosine kinase inhibitor treatment was initiated at the time of diagnosis. |
| format | Article |
| id | doaj-art-8032c150dcc642c3abe9f70241e0a0b2 |
| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-8032c150dcc642c3abe9f70241e0a0b22025-08-20T02:17:00ZengMDPI AGDiagnostics2075-44182025-03-0115784210.3390/diagnostics15070842RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution?Piotr Piekarczyk0Urszula Lechowicz1Janusz Szopiński2Mateusz Polaczek3Katarzyna Błasińska4Katarzyna Modrzewska53rd Department of Lung Diseases and Oncology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, PolandDepartment of Genetics and Clinical Immunology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, Poland3rd Department of Lung Diseases and Oncology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, Poland3rd Department of Lung Diseases and Oncology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, PolandDepartment of Radiology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, Poland3rd Department of Lung Diseases and Oncology, National Tuberculosis and Lung Diseases Research Institute, 01-138 Warsaw, Poland<b>Background and Clinical Significance:</b> Molecular testing plays a crucial role in lung cancer diagnosis and management. While single-gene tests (SGTs) remain an important diagnostic tool, developments in novel methods such as next generation sequencing (NGS) provide a more precise mutational profile and enable the targeted treatment of a larger scope of mutation-driven cancers. <b>Case presentation:</b> We present a case of a patient with a rare <i>EGFR</i> variant lung adenocarcinoma, who was misdiagnosed using a SGT. The initial treatment with immunotherapy was unsuccessful. <b>Conclusions:</b> The patient could have benefited if NGS had been performed instead of traditional real-time polymerase chain reaction (RT-PCR) and if adequate tyrosine kinase inhibitor treatment was initiated at the time of diagnosis.https://www.mdpi.com/2075-4418/15/7/842lung cancerNGSRT-PCR |
| spellingShingle | Piotr Piekarczyk Urszula Lechowicz Janusz Szopiński Mateusz Polaczek Katarzyna Błasińska Katarzyna Modrzewska RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? Diagnostics lung cancer NGS RT-PCR |
| title | RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? |
| title_full | RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? |
| title_fullStr | RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? |
| title_full_unstemmed | RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? |
| title_short | RT-PCR Misdiagnosis of Patient with Rare EGFR Mutation Lung Adenocarcinoma: Is NGS the Only Solution? |
| title_sort | rt pcr misdiagnosis of patient with rare egfr mutation lung adenocarcinoma is ngs the only solution |
| topic | lung cancer NGS RT-PCR |
| url | https://www.mdpi.com/2075-4418/15/7/842 |
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