Comprehensive Testing Highlights a Resistance Mutation But Offers Alternatives

Genomic testing has an ever-increasing role in helping to reveal therapies that will work for patients like "Maria" given their molecular profile and genomic alterations that may indicate a therapy will not work for a particular patient. In Maria’s case, it was found that she was not eligible for an approved therapeutic based on the molecular profile of her tumor; however, comprehensive testing helped to identify an alternative treatment.

About "Maria"

In this molecular profile, our fictional patient, Maria, is a 53 year-old woman who went to her physician when she developed unexplained weight loss, nausea and vomiting. She was diagnosed with metastatic colorectal cancer involving the lung and liver. Maria failed her first course of chemotherapy, and asked her physician about molecular markers in her tumor that might make her eligible for any targeted therapies.

Maria’s tumor tissue was sent for further molecular analysis which identified a KRAS mutation that indicated Maria was not a candidate for cetuximab.

Actionable Information

  • Cetuximab has been approved for colorectal cancer, however studies suggest that its benefit is limited to patients whose tumors do not harbor KRAS mutations.

References

  1. Karapetis, et al. K-ras Mutations and Benefit from Cetuximab in Advanced Colorectal Cancer. N Engl J Med 2008; 359:1757-1765.

Note: This fictional, composite story, which includes data from actual representative patient cases, conveys how information from comprehensive genomic testing may impact treatment for management and care of people suffering from cancer.

Diagnosis

Colorectal Cancer

Initial Treatment

Maria was initially treated with 5-FU and oxaliplatin. Disease seemed to stabilize for a period of a few months, but repeat CT scan showed progression of the metastatic lesions in the liver.

molecular testing results

  • KRAS: G13D mutation
  • BRCA1 c.2105delG
  • EGFR: Wild Type

How might "Maria" be helped?

Maria’s doctor discovered that she was potentially eligible for a clinical trial of a PARP inhibitor due to her BRCA1 deletion.