Case Study: Genomic Medicine in Precision Oncology

Abstract

This case study focuses on applying genomic medicine in precision oncology to a 55-year-old woman diagnosed with metastatic breast cancer. The patient underwent extensive genomic profiling to identify actionable mutations and provided personalized data used in the selection of targeted therapy. Therefore, treatment was tailored and guided by genetic information integrated into clinical decision-making; hence, there is an improvement in outcomes and quality of life. This case underlines the possibility of genomic medicine revolutionizing cancer therapy through tailored therapies that consider unique genetic variation profiles.

Introduction

Precision oncology is a kind of treatment that can be tailored for different patients based on the genetic makeup of their tumor. Advances in genomic medicine have helped identify specific mutations driving cancer growth, and targeted therapies could thus improve efficacy and reduce side effects. This case study focuses on a patient who benefitted from genomic profiling for metastatic breast cancer: the role of personalized medicine in enhancing treatment outcomes.

Patient Information

• Age: 55 years
• Gender: Female
• Medical History: Diagnosed with invasive ductal carcinoma (IDC) five years earlier. This patient was initially treated with a combination of lumpectomy and adjuvant chemotherapy. She relapsed after endocrine treatment and had metastatic lesions found in the liver and bones with her current imaging studies.

Clinical Findings

• Upon admission for evaluation, the patient presented with:
• Symptoms: Fatigue, Weight loss (5 kg in the last month), Mild abdominal discomfort
• Physical Examination: Bilateral breast masses palpable. Tenderness in the right upper quadrant. No significant lymphadenopathy

Laboratory Tests

• Elevated liver enzymes (AST: 150 U/L, ALT: 130 U/L)
• CA 15-3: Elevated at 60 U/mL (normal range: <30 U/mL)

Timeline

Initial Diagnosis and Treatment

• Date: January 2018
• Diagnosis: Invasive ductal carcinoma (Stage II).
• Treatment: Lumpectomy followed by chemotherapy and radiotherapy.

Recurrence and Metastasis

• Date: January 2022
• Finding: Disease recurrence with liver and bone metastases.
• Treatment: Initiation of endocrine therapy with letrozole.

Referral for Genomic Profiling

• Date: March 2023
• Reason: Disease progression despite endocrine therapy.
• Action: Comprehensive genomic profiling ordered.

Genomic Profiling Results

• Date: April 2023
• Findings: Identified mutations in the PIK3CA and TP53 genes, along with amplification of the HER2 gene.

Targeted Therapy Initiation

• Date: May 2023
• Treatment: Started on trastuzumab (HER2-targeted therapy) combined with alpelisib (PIK3CA inhibitor).

Follow-Up Assessments

• Date: August 2023
• Findings: Improvement in symptoms and reduction in tumor burden based on imaging studies.
• Labs: Liver enzymes normalized, CA 15-3 decreased to 35 U/mL.

Diagnostic Assessment

Genomic Profiling

Collect tumor samples by conducting a tissue biopsy and send them for NGS.

Results

• Mutations in PIK3CA: These occur frequently in breast cancer and are known to be associated with resistance to endocrine therapy.
• TP53 Mutation: It has a poor prognosis.
• HER2 amplification: Suggests potential sensitivity to HER2-targeted therapies.

Follow-Up and Outcomes

The patient has been closely monitored since the initiation of targeted therapy:

• Symptom management: Much relief from the abdominal discomfort and general trend improvement in their energy levels.
• Imaging: A Follow-up PET/CT scan done in August 2023 revealed shrinkage of liver lesions to 50% and had stabilized the bone metastases.
• Laboratory Tests: The functions of the liver have returned to normal ranges. Tumor markers, particularly CA 15-3, were recorded to be in a decreasing trend and therefore an indication of a positive response to the treatment regimen.

Discussion

Genomic medicine in precision oncology can be considered as a potential basis for the transformation of treatment paradigms related to cancers. This case can be taken as an example of the following important features:

The importance of genomic profiling is that it guided the treatment decision: Thereby, the actionable mutations identified on her profile enabled them to choose targeted therapies likely to be effective owing to specific tumor biology in the patient.

Targeting Therapies Role: This combination of trastuzumab and alpelisib provided a two-pronged attack at the amplifications of HER2, as well as mutations of PIK3CA, thereby creating a strong treatment strategy aimed at managing metastatic breast cancer.

Patient-Centered Care: This case is a presentation wherein therapeutic plans must consider the genetic profile of an individual to improve treatment outcomes and health status.

Future Implications: This case of successful application of genomic medicine demands that genomic profiling at a broader scale be integrated into oncology practices so that cancer patients receive the most appropriate treatments.

Takeaway

Introducing genomics as a paradigm shift in the practice of oncology in cancer treatment, this case study summarizes the need for a personalized approach to care where the therapy is based on genetic insight. Therefore, by using the concept of genomic profiling, an oncologist can give targeted therapies according to the unique characteristics of each patient's tumor which could lead to an improved outcome of treatment with an improved quality of life.

Patient’s Perspective

The patient felt relieved and hopeful once she had undergone this genomic profiling, followed by targeted therapy. She was already tense and nervous before the entire procedure; however, she felt strengthened and empowered with the guidance of her treatment. She knew what to expect from the implications made of her genomic findings, as she received clear communication from her healthcare team. She appreciated the reduction in symptomatology and improvement in energy status, thus having a positive impact on her well-being. In addition, the patient underscored the aspect of interpersonal support during the treatment period, pointing to the importance of emotional support in cancer care.

Conclusion

This case study best represents how genomic medicine transforms precision oncology, particularly in the management of metastatic breast cancer. Actionable mutation identification and subsequent treatment will further improve outcomes significantly. Therefore, the integration of established genomic technologies into standard oncology practice will be necessary in making such personalized, effective, and compassionate care for patients afflicted with cancer possible.

References

1. Bachelot, T., et al. (2019). PIK3CA mutations in breast cancer: Clinical implications. Nature Reviews Clinical Oncology, 16(3), 178-192.
2. Baselga, J., et al. (2012). The effects of trastuzumab and alpelisib on HER2-positive breast cancer. Cancer Cell, 22(3), 326-336.
3. Mardini, S., & Varughese, J. (2020). Next-Generation Sequencing in Oncology: Clinical Applications. Clinical Cancer Research, 26(10), 2456-2467.
4. Morrow, M., & Harris, J. R. (2021). Personalized Therapy for Breast Cancer: The Role of Genomics. Breast Cancer Research and Treatment, 187(3), 579-588.
5. Ward, K. A., & Tighe, A. (2018). The role of genomic profiling in cancer management. Oncology Times, 40(10), 24-30.