Case study 3
Exploring the significance of an unexpected genetic finding in bowel cancer.
Patient:
A man in his mid-50s from regional Australia.
Referral reason:
The patient was referred to our Precision Care MDT to determine if the unexpected genetic finding was inherited and to explore its relevance for future treatment options.
Initial presentation:
The patient was diagnosed with bowel cancer that had spread to the liver in late 2022.
Clinical history:
- Initial treatment: Combination chemotherapy and targeted therapy, resulting in tumour shrinkage
- Early 2023: Primary tumour surgically removed
- Mid-2023: Cancer progression in the liver
- Second-line treatment: Different combination of chemotherapy and targeted therapy, again achieving tumour shrinkage
- Late 2023: One chemotherapy drug stopped due to side effects
Molecular findings:
- Stable genetic markers associated with response to certain treatments
- Low overall number of genetic changes in the tumour
- Normal versions of some genes commonly mutated in this cancer type
- Unexpected mutation found in a gene typically associated with other cancer types
Our approach:
We reviewed the patient's medical history, family history, and genetic test results. We also conducted a thorough review of current research on this genetic change in bowel cancer.
Key considerations:
- The significance of this genetic change in bowel cancer is still being researched and may differ from its known impact in other cancers.
- Previous studies have shown limited success with certain targeted therapies for this genetic change in bowel cancer.
- Some evidence suggests that tumours with similar genetic features might respond to specific types of chemotherapy.
Value-added insights:
- We consulted with a national expert who recommended additional genetic tests to better understand the mutation's significance.
- We provided context on how this genetic change might be interpreted differently in bowel cancer compared to other cancer types.
- We summarised current evidence on potential targeted treatments related to this genetic change.
Recommendations:
- Perform genetic testing to determine if the mutation is inherited.
- Conduct additional tumour tests to clarify the mutation's impact.
- Consider specific treatment options if further testing suggests they might be beneficial.
- Offer genetic counselling and consider testing family members if the mutation is inherited.
Outcome:
Our recommendations provided the treating doctor with:
- A clear plan for further genetic testing
- Evidence-based context for potential future treatment decisions
- Guidance on genetic counselling and family risk management
This case shows how our Precision Care Initiative can provide in-depth interpretation of complex genetic findings, especially when their significance isn't straightforward. It demonstrates our ability to combine the latest research with practical clinical recommendations.
Be involved
Contact us
P: 02 9382 5111
F: 02 9382 5180
E:听precisioncareinitiative@unsw.edu.au
Visit us
Nelune Comprehensive Cancer Centre
Prince of Wales Hospital
Randwick NSW 2031