Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer
We report a case of metastatic Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR) sensitizing mutation – deletion exon 19 – treated with first line chemotherapy using Carboplatin and Pemetrexed. The treatment was then changed to first generation tyrosine kinase inhibitor...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-12-01
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| Series: | Current Problems in Cancer: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666621921000624 |
| _version_ | 1819096009023684608 |
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| author | Caitriona Goggin Myo Oo Nay Daniel Ryan Sinead Toomey Bryan Hennessy Paula Calvert |
| author_facet | Caitriona Goggin Myo Oo Nay Daniel Ryan Sinead Toomey Bryan Hennessy Paula Calvert |
| author_sort | Caitriona Goggin |
| collection | DOAJ |
| description | We report a case of metastatic Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR) sensitizing mutation – deletion exon 19 – treated with first line chemotherapy using Carboplatin and Pemetrexed. The treatment was then changed to first generation tyrosine kinase inhibitor (TKI), Gefinitib following the detection of EGFR sensitizing mutation. Upon disease progression on Gefitinib, the need for tissue biopsy for resistant point mutation that substitutes methionine for threonine at amino acid position 790 (T790M) was met with diagnostic challenge due to difficulty in sampling tissue from the site of progressive disease. We opted, instead, to perform the non-invasive method using exhaled breath condensate (EBC) and plasma circulating tumour DNA (ctDNA); both of these tests detected the presence of T790M mutation. Third generation TKI, Osimertinib, was commenced based on these non-invasive diagnostic methods, and the patient showed partial response followed by ongoing stable disease after 28 months which exceeded the median progression-free survival (PFS) demonstrated in the AURA3 trial. We believe that a non-invasive method using novel EBC or plasma ctDNA can be used not only as an adjunct test but as an alternative to tissue biopsy where there are diagnostic challenges with invasive procedures. |
| first_indexed | 2024-12-21T23:52:22Z |
| format | Article |
| id | doaj.art-9048b28cfad84c5ab1d8a31c6095b205 |
| institution | Directory Open Access Journal |
| issn | 2666-6219 |
| language | English |
| last_indexed | 2024-12-21T23:52:22Z |
| publishDate | 2021-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Current Problems in Cancer: Case Reports |
| spelling | doaj.art-9048b28cfad84c5ab1d8a31c6095b2052022-12-21T18:45:54ZengElsevierCurrent Problems in Cancer: Case Reports2666-62192021-12-014100114Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung CancerCaitriona Goggin0Myo Oo Nay1Daniel Ryan2Sinead Toomey3Bryan Hennessy4Paula Calvert5Department of Oncology, University Hospital Waterford, Waterford, Ireland; Corresponding author.Department of Oncology, University Hospital Waterford, Waterford, IrelandDepartment of Molecular Medicine, Royal College of Surgeons in Ireland, Dublin, IrelandDepartment of Molecular Medicine, Royal College of Surgeons in Ireland, Dublin, IrelandDepartment of Molecular Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland; Department of Oncology, Beaumont Hospital, Dublin, IrelandDepartment of Oncology, University Hospital Waterford, Waterford, IrelandWe report a case of metastatic Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR) sensitizing mutation – deletion exon 19 – treated with first line chemotherapy using Carboplatin and Pemetrexed. The treatment was then changed to first generation tyrosine kinase inhibitor (TKI), Gefinitib following the detection of EGFR sensitizing mutation. Upon disease progression on Gefitinib, the need for tissue biopsy for resistant point mutation that substitutes methionine for threonine at amino acid position 790 (T790M) was met with diagnostic challenge due to difficulty in sampling tissue from the site of progressive disease. We opted, instead, to perform the non-invasive method using exhaled breath condensate (EBC) and plasma circulating tumour DNA (ctDNA); both of these tests detected the presence of T790M mutation. Third generation TKI, Osimertinib, was commenced based on these non-invasive diagnostic methods, and the patient showed partial response followed by ongoing stable disease after 28 months which exceeded the median progression-free survival (PFS) demonstrated in the AURA3 trial. We believe that a non-invasive method using novel EBC or plasma ctDNA can be used not only as an adjunct test but as an alternative to tissue biopsy where there are diagnostic challenges with invasive procedures.http://www.sciencedirect.com/science/article/pii/S2666621921000624ctDNANSCLCEGFR mutationT790M mutationExhaled Breath Condensate |
| spellingShingle | Caitriona Goggin Myo Oo Nay Daniel Ryan Sinead Toomey Bryan Hennessy Paula Calvert Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer Current Problems in Cancer: Case Reports ctDNA NSCLC EGFR mutation T790M mutation Exhaled Breath Condensate |
| title | Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer |
| title_full | Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer |
| title_fullStr | Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer |
| title_full_unstemmed | Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer |
| title_short | Exhaled breath condensate confirming T790M mutation in EGFR-mutated Non-Small Cell Lung Cancer |
| title_sort | exhaled breath condensate confirming t790m mutation in egfr mutated non small cell lung cancer |
| topic | ctDNA NSCLC EGFR mutation T790M mutation Exhaled Breath Condensate |
| url | http://www.sciencedirect.com/science/article/pii/S2666621921000624 |
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