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Liquid Biopsy in the Oncological Management of a Histologically Undiagnosed Lung Carcinoma: A Case Report
Giovanni M Fadda1, Renato Lobrano2, Milena Casula3
1Medical Oncology Unit, University Hospital (AOU) of Sassari, Via Enrico De Nicola 1, 07100 Sassari, Italy.
Abstract:
Lung cancer is one of the most common and lethal cancers worldwide. Numerous medications targeting specific molecular alterations in non-small cell lung cancer have been introduced in the last decade and have revolutionized the clinical management of the disease. Their use has brought to a parallel evolution of molecular testing techniques to identify alterations in druggable molecular targets within the genetic material of the tumors. To perform molecular testing, biopsy or surgery tissue specimens are needed, which in addition allow the histological characterization of the tumors. Unfortunately, in real-life practice not all the patients are suitable for biopsy or surgery procedures. The use of liquid biopsy for blood extracted tumoral DNA analysis is a promising approach in unbiopsied cases, but it is also weighted by several methodological and technical limitations. We report here a case of histologically undiagnosed lung cancer managed with a liquid biopsy and subsequently with anti-EGFR treatment. Our report highlights that the use of liquid biopsy molecular testing in specific clinical situations can offer treatment opportunities for fragile patients affected by lung cancer.
Insights
Liquid biopsy enables molecular testing for lung cancer in patients unsuitable for tissue biopsy. This approach identified a targetable alteration, allowing successful anti-EGFR treatment for a fragile patient.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Lung cancer management has been transformed by targeted therapies for specific molecular alterations in non-small cell lung cancer (NSCLC).
- Molecular testing of tumor tissue is crucial for identifying these druggable targets, but tissue acquisition via biopsy or surgery is not always feasible.
- Liquid biopsy, analyzing circulating tumor DNA (ctDNA) from blood, offers a potential alternative for molecular profiling in unbiopsied patients.
Observation:
- A case of histologically undiagnosed lung cancer is presented.
- The patient, unsuitable for traditional biopsy, underwent molecular testing using liquid biopsy.
- The liquid biopsy identified a targetable molecular alteration.
Findings:
- The liquid biopsy successfully identified a genetic alteration in the patient's tumor DNA.
- This molecular finding facilitated the initiation of anti-EGFR therapy.
- The patient received targeted treatment based on liquid biopsy results.
Implications:
- Liquid biopsy molecular testing can provide crucial diagnostic and therapeutic insights in challenging clinical scenarios.
- This approach expands treatment opportunities for fragile lung cancer patients unable to undergo tissue biopsy.
- The study underscores the clinical utility of liquid biopsy in guiding personalized cancer therapy.
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