Researchers at the University of the Highlands & Islands have made significant progress in the diagnosis of mesothelioma, a rare and aggressive cancer linked to asbestos exposure. The study, funded by Mesothelioma UK, explored a novel approach using pleural effusion – a build-up of fluid around the lungs – as a diagnostic tool.
The Challenge of Mesothelioma Diagnosis
Mesothelioma is notoriously difficult to diagnose early. Some patients with mesothelioma develop a build-up of fluid around their lungs as their first clinical symptom. This fluid can make breathing difficult and is routinely drained as part of standard care. Currently, a test can be performed to identify if tumour cells are present in the fluid, however, this is often not successful often leading to delayed treatment and poor outcomes.
A Promising New Test
Lead researcher Antonia Pritchard and her team investigated whether cell-free DNA (cfDNA) present in pleural effusion could provide valuable diagnostic information. The study aimed to address two critical questions:
- Could specific tumour-related DNA be detected in pleural fluid?
- Could changes in genes unique to mesothelioma be identified through this DNA?
Key Findings
The researchers analysed a large number of pleural effusion samples from mesothelioma patients. Here are the key findings:
- DNA variants could be detected in fluid build-up around the lungs that were indicative of the presence of a tumour affecting the lung. In itself, this could be helpful when the cause of fluid accumulation around the lungs is not determined using other non-invasive tests or scans
- Some of these DNA variants are particularly indicative of pleural mesothelioma being the tumour present
- When detected, they therefore have the potential to act as a ‘rule-in’ test for the diagnosis of pleural mesothelioma
- Further, there are DNA variants suggestive of fluid build-up being caused by non-small cell lung cancer, which can therefore act also as a differential diagnostic between the two types of tumour
Implications for Patients
For patients with pleural effusion, this approach offers several benefits:
- Faster Diagnosis: By analysing cfDNA, clinicians can expedite the diagnostic process
- Reduced Invasiveness: Patients may avoid invasive biopsies, which can be uncomfortable and carry risks
- Precision Medicine: Identifying specific genetic changes allows for targeted treatment strategies
Future Integration
The researchers envision that this approach has the potential to be integrated as one of a suite of tests to be conducted on pleural effusion (e.g. in addition to the current cytology tests) in the long term. This aims to advance the diagnostic speed and precision for people with fluid build-up around the lungs, by providing an improved diagnostic pathway that removes the need for an invasive biopsy in even more patients.
Ongoing Work
Despite unexpected complexities in data analysis, the team remains committed to maximising the project’s impact.
The work analysing the data is still on-going and it is hoped that the range of genetic changes detected can be expanded, to ensure the most is made of the project funding and that results from these types of assays can be used to detect as many types of pleural mesothelioma as possible.
