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Case Study

Breaking through a borderline cancer diagnosis

Published November 16th, 2023

We met Maggie*, a vibrant 41-year-old mother of two young children, soon after she was diagnosed with stage 2 breast cancer. Determined to find the best possible treatment path, Maggie’s family reached out to PHM based on the recommendation of another PHM client.

Charting a treatment path with molecular profiling
Maggie’s standard cancer molecular profiling tests were inconclusive. The tests that normally indicate whether the cancer is HER2-positive and/or hormone receptor positive were both “borderline”. As oncologists heavily rely on these results to determine which treatments to recommend, these ambiguous results made it very challenging to chart the right treatment path. In fact, outreach to multiple oncologists resulted in conflicting views on the best treatment plan.

Maggie’s PHM Personal Care Team took a deep dive into her standard test results. They compared the exact values with those in the most recent published literature and determined both borderline results most likely fell on the “negative” side. PHM also recommended a more comprehensive molecular test specifically designed for breast cancer that analyzes over 80 genes to accurately determine tumor subtype. The results of this test helped confirm that the tumor was in fact triple negative — known to be the most aggressive sub-type of breast cancer. Armed with this information and a list of questions that her care team helped formulate, Maggie returned to her oncologists. Of these questions, the most important was “What is the best treatment option for this triple negative tumor?”

Triple negative breast cancer is typically treated with a combination chemotherapy and sometimes a medication that helps the immune system fight the cancer, called immunotherapy. However, Maggie’s triple negative tumor was also a “borderline” size, and this meant there was disagreement among top oncologists about adding a powerful drug called carboplatin to the chemotherapy regimen. The PhD researchers on her Personal Care Team scoured published studies for data that could help her decide. They presented Maggie and her family with a thorough summary regarding the benefits and downsides of the addition of carboplatin, including very recent data demonstrating that the addition of carboplatin was specifically beneficial for women under 50 years old. Knowing she had been well-educated on the latest research gave Maggie the confidence to make her treatment choice. She began a regimen for triple negative breast cancer that included intense chemotherapy with carboplatin along with immunotherapy.

Treatment led to an excellent response
One goal of treatment is to determine how well the tumor responds to therapy. Breast cancers that completely shrink during therapy are much less likely to return, but the likelihood of this occurring depends on matching the right therapy regimen to the tumor. When Maggie underwent a lumpectomy to remove any residual cancer, her laboratory results revealed an excellent “complete pathological response” to therapy. The tumor had been destroyed. Also, molecular testing found that she did not have any cancer DNA circulating in her blood stream after therapy. This was another sign that the tumor had responded very well to treatment, and the regimen was the correct match. Armed with this information, Maggie was confident in her decision to forgo a mastectomy, avoiding major surgery and recovery.

Maggie is currently doing well on a planned course of radiation. Her PHM Personal Care Team stays in constant communication and frequently monitors her, while staying on the forefront of potential treatment options, including clinical trials and cancer vaccines, in case the cancer ever returns.

For more information on PHM’s Molecular Profiling Strategy, send us an email at phmcommunications@privatehealth.com.

*Name changed to protect privacy

About the Authors

Ross Keller, PhD

Research Director

Dr. Keller is focused on providing decision-grade information to cancer patients regarding the best treatments options. He has experience in genomics, cancer evolution, tumor modeling, and early-stage drug development.

Christina Celestino, MSN, RN, FNP-BC

Clinical Director I Nurse Practitioner

Christina is a board-certified nurse practitioner with over ten years of combined nursing and advanced practice nursing experience including pediatric oncology, adult oncology, gynecologic oncology, medical-surgical / intra‐operative first assisting, and addiction medicine.