Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case
Lung adenocarcinoma is a subtype of NSCLC that is often associated with poor prognosis. We present a case of metastatic lung adenocarcinoma in which comprehensive genomic profiling using both solid and liquid biopsies was employed to monitor disease progression and guide targeted therapy decisions....
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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | The Journal of Liquid Biopsy |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950195425000190 |
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| author | Bharat Bhosale Gunj Bafna Paridhy Vanniya Subramanyam Kapil Salgia Sadia Afreen Jinumary John Vyomesh Javle Kritika Verma N.R. Naavarasi Sreekanth Reddy Peddagangannagari Akhil Gorla Giridharan Periyasamy Kshitij Rishi Hitesh Goswami Vidya H. Veldore |
| author_facet | Bharat Bhosale Gunj Bafna Paridhy Vanniya Subramanyam Kapil Salgia Sadia Afreen Jinumary John Vyomesh Javle Kritika Verma N.R. Naavarasi Sreekanth Reddy Peddagangannagari Akhil Gorla Giridharan Periyasamy Kshitij Rishi Hitesh Goswami Vidya H. Veldore |
| author_sort | Bharat Bhosale |
| collection | DOAJ |
| description | Lung adenocarcinoma is a subtype of NSCLC that is often associated with poor prognosis. We present a case of metastatic lung adenocarcinoma in which comprehensive genomic profiling using both solid and liquid biopsies was employed to monitor disease progression and guide targeted therapy decisions. An initial liquid biopsy detected ROS1-CCDC6 gene fusion, and the patient was started on Crizotinib. Following disease progression, further genomic profiling using both solid tissue and cfDNA revealed the presence of a previously undetected classical mutation EGFR exon 21, p. L858R. Consequently, the treatment was adjusted to include both Crizotinib and Gefitinib. A 6-month follow-up showed relapse and extensive metastasis. A repeat liquid biopsy identified a newly acquired TP53 mutation (exon 7, p.R248Q) in addition to the persistent EGFR mutation. Restarting the targeted therapy led to complete metabolic resolution of the disease. This case highlights the utility of liquid biopsy when tissue biopsy is not feasible and underscores the importance of integrating both solid and liquid genomic data to capture a more comprehensive mutational landscape, including low-frequency or emerging variants, ultimately enabling more effective, individualized treatment strategies. |
| format | Article |
| id | doaj-art-6a421a84d1e048e192f9a556b5a65a0b |
| institution | DOAJ |
| issn | 2950-1954 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | The Journal of Liquid Biopsy |
| spelling | doaj-art-6a421a84d1e048e192f9a556b5a65a0b2025-08-20T03:23:03ZengElsevierThe Journal of Liquid Biopsy2950-19542025-06-01810030310.1016/j.jlb.2025.100303Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world caseBharat Bhosale0Gunj Bafna1Paridhy Vanniya Subramanyam2Kapil Salgia3Sadia Afreen4Jinumary John5Vyomesh Javle6Kritika Verma7N.R. Naavarasi8Sreekanth Reddy Peddagangannagari9Akhil Gorla10Giridharan Periyasamy11Kshitij Rishi12Hitesh Goswami13Vidya H. Veldore14Bombay Hospital, Mumbai, India; BB Precision Oncocare Centre, Mumbai, India; SL Raheja Fortis Associate Hospital, Mumbai, India; Corresponding author. BB Precision Oncocare Centre, Mumbai, India.BB Precision Oncocare Centre, Mumbai, India4baseCare Precision Health Private Limited, Bengaluru, IndiaBombay Hospital, Mumbai, IndiaSL Raheja Fortis Associate Hospital, Mumbai, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, India4baseCare Precision Health Private Limited, Bengaluru, IndiaLung adenocarcinoma is a subtype of NSCLC that is often associated with poor prognosis. We present a case of metastatic lung adenocarcinoma in which comprehensive genomic profiling using both solid and liquid biopsies was employed to monitor disease progression and guide targeted therapy decisions. An initial liquid biopsy detected ROS1-CCDC6 gene fusion, and the patient was started on Crizotinib. Following disease progression, further genomic profiling using both solid tissue and cfDNA revealed the presence of a previously undetected classical mutation EGFR exon 21, p. L858R. Consequently, the treatment was adjusted to include both Crizotinib and Gefitinib. A 6-month follow-up showed relapse and extensive metastasis. A repeat liquid biopsy identified a newly acquired TP53 mutation (exon 7, p.R248Q) in addition to the persistent EGFR mutation. Restarting the targeted therapy led to complete metabolic resolution of the disease. This case highlights the utility of liquid biopsy when tissue biopsy is not feasible and underscores the importance of integrating both solid and liquid genomic data to capture a more comprehensive mutational landscape, including low-frequency or emerging variants, ultimately enabling more effective, individualized treatment strategies.http://www.sciencedirect.com/science/article/pii/S2950195425000190Metastatic lung adenocarcinomaCombined solid and liquid biopsy panelPrecision medicineCrizotinibGefitinib |
| spellingShingle | Bharat Bhosale Gunj Bafna Paridhy Vanniya Subramanyam Kapil Salgia Sadia Afreen Jinumary John Vyomesh Javle Kritika Verma N.R. Naavarasi Sreekanth Reddy Peddagangannagari Akhil Gorla Giridharan Periyasamy Kshitij Rishi Hitesh Goswami Vidya H. Veldore Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case The Journal of Liquid Biopsy Metastatic lung adenocarcinoma Combined solid and liquid biopsy panel Precision medicine Crizotinib Gefitinib |
| title | Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case |
| title_full | Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case |
| title_fullStr | Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case |
| title_full_unstemmed | Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case |
| title_short | Utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma: Insights from a real-world case |
| title_sort | utility of combined solid and liquid biopsy for molecular profiling in lung adenocarcinoma insights from a real world case |
| topic | Metastatic lung adenocarcinoma Combined solid and liquid biopsy panel Precision medicine Crizotinib Gefitinib |
| url | http://www.sciencedirect.com/science/article/pii/S2950195425000190 |
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