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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:

1. The significance of this genetic change in bowel cancer is still being researched and may differ from its known impact in other cancers.
2. Previous studies have shown limited success with certain targeted therapies for this genetic change in bowel cancer.
3. Some evidence suggests that tumours with similar genetic features might respond to specific types of chemotherapy.

Value-added insights:

1. We consulted with a national expert who recommended additional genetic tests to better understand the mutation's significance.
2. We provided context on how this genetic change might be interpreted differently in bowel cancer compared to other cancer types.
3. We summarised current evidence on potential targeted treatments related to this genetic change.

Recommendations:

1. Perform genetic testing to determine if the mutation is inherited.
2. Conduct additional tumour tests to clarify the mutation's impact.
3. Consider specific treatment options if further testing suggests they might be beneficial.
4. Offer genetic counselling and consider testing family members if the mutation is inherited.

Outcome:

Our recommendations provided the treating doctor with:

1. A clear plan for further genetic testing
2. Evidence-based context for potential future treatment decisions
3. 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.