Find out how our team helped Sheila with her ER positive breast cancer (stage 3)

Sheila is a 56-year-old Canadian woman who was recently diagnosed with breast cancer. 

Her husband, a medical professional, was concerned that Sheila had not received tumor DNA sequencing and had not been given a PET-CT to ensure accurate staging…

So they called us to get a Second Opinion.

It’s a good thing they did! Not only were we able to provide Sheila with a far more accurate diagnosis, we were able to get her on a treatment that is more effective for her (and is fully covered by the drug company!), as well as line up a future treatment if the cancer should ever return.

Let’s take a look at how we helped Sheila to get the care she needed.

First, we’ll talk briefly about the importance of advanced diagnostic imaging tools like PET-CT.

Why PET-CTs are so important

PET-CT includes metabolic activity, which is not the case for standard CT, MRI, and X-ray based imaging. This is important because it is the only type of imaging that can determine the difference between benign lumps and cancerous tumors. 

In other words: PET-CT does not rely on the density of the suspected lumps alone, as is the case for CT, X-ray and MRI. 

In fact, if a tumor has the same density as surrounding tissues, it can be easily missed by imaging that relies on density differences (i.e. CT, MRI, X-ray) – whereas, a PET-CT will absolutely catch it since the active tumor will show metabolic activity on the PET-CT scan. 

Even better? The metabolic activity revealed on a PET-CT scan, which is based on the serum uptake value of the FDG, also shows us how aggressive the tumor is. This is vital information as it informs treatment recommendations.

Precision Diagnostics: PET/CT and Tumor DNA Sequencing

Our team arranged for a private PET-CT scan for Sheila as soon as possible. However, because Sheila was still undergoing treatment, she had to wait until after her treatment was completed before getting her PET-CT. 

Additionally, Sheila had been diagnosed as having a “high-risk” ER positive, stage 3, invasive lobular breast cancer, with a tumor just under 5 centimetres and with 4 positive lymph nodes.

Her public oncologist offered her surgery followed by adjuvant dose-dense Doxorubicin, Cyclophosphamide and Paclitaxe, along with radiation therapy, followed by 10 years of adjuvant endocrine treatment and adjuvant bisphosphonates. This is considered standard care for high-risk cases like this. Sheila’s CT scan and bone scan showed that she did not have metastasis.

We initiated tumor DNA sequencing for Sheila, starting with a laser dissection extraction of the tumor cells in order to ensure a highly purified tumor DNA sample. We then used a comprehensive tumor DNA sequencing panel with 550 research-based genes. This specific panel test looks at many different aspects, including:
– Tumor mutation burden (TMB);
– Mismatch repair deficiency (MMR-D);
– Microsatellite instability (MSI-H); and
– Loss of heterozygosity (LOH). 

Significantly, this test is also optimized for poor quality DNA samples – i.e. samples stored in FFPE, which is the standard procedure for storing tumor samples and can cause degradation of the tumor DNA.

Identifying Targeted and Advanced Treatment Options

Our lab team’s analysis of Sheila’s tumor DNA sequencing results found that Sheila had a PIK3CA E545K mutation, which is common in lobular breast cancers. 

Importantly, while this mutation results in an aggressive tumor that has early recurrence and is often resistant to standard chemotherapy, it also opens up the opportunity for treatment with a recently approved PIK3CA inhibitor called Alpelisib. 

However, Alpelisib was approved specifically for metastatic PIK3CA mutated breast cancers and at that point in time, Sheila was not metastatic. 

Preventing Cancer Recurrence

We also uncovered new data to show that another drug approved for metastatic ER positive breast cancer showed significant benefits when given as an adjuvant maintenance therapy prior to metastasis. 

This groundbreaking study (MONARCH-E) showed that when women with “high-risk” ER positive breast cancer were given Abemaciclib – a drug that inhibits CDK4/6 signalling prior to being metastatic, it reduced the chance of becoming metastatic!

In this study, Abemaciclib at 4 years resulted in a 34.1% reduction in risk of recurrence!

Our research team wrote a report containing all of this data for Sheila and her treatment team. Her doctors agreed to look into it, based on our research and findings, and Sheila was able to start this new treatment right away – not only that, but the treatment cost is fully covered! 

So Sheila is now receiving adjuvant Abemaciclib from the drug maker at no cost to herself. 

And, what’s more is that if Sheila ever does develop metastatic disease, she will be eligible for Alpelisib. Because we already know about this option for her based on her tumor DNA sequencing, she will be able to access it rapidly and have the very best chance at treatment success.

Follow-up Treatment Monitoring with Liquid Biopsy

In order to determine if this drug is working as it should be, and to detect recurrence in advance before a visible tumor develops, Sheila is also now receiving Liquid Biopsies (ctDNA) on a regular basis from our team. 

This is an exosome-associated circulating tumor DNA liquid biopsy – a new, leading-edge blood-based genetic test – that will measure the amount of her PIK3CA E545K mutation in her blood. The test is able to detect one piece of PIK3CA mutated tumor DNA in over 18,000 pieces of normal DNA unmutated DNA! It is highly accurate and can detect recurrence prior to having a visual tumor.

You can visit our sister company, Liquid Biopsy Labs, to learn more.

How you can increase your chance of treatment success!

There are two ways that folks typically start with us:

1. Get a FREE Cancer Care Strategy Session
This is a 30-min discussion with our team to educate you on what Precision Cancer Medicine is, and how to navigate the healthcare system to access better cancer care options beyond standard care alone. You may invite family members or friends to join our call and you can also record it if you like.

2. Book a Precision Second Opinion
Most of our clients begin with this option from the get-go, because it provides you with immediate treatment recommendations proven to be more effective than what you’re currently on. Our cancer expert, Alex Rolland, will speak with you 1:1 about your case, conduct personalized research beforehand, and provide you with a written report to show you doctor (if you choose). The call is recorded for you to reference anytime in future and/or show your loved ones and treatment team. It is the fastest way to start improving your chance of beating cancer and ensuring you have the best chance of remaining cancer-free.

We can almost always help patients, no matter what stage they are at, as long as the person is still able to tolerate treatment (and targeted treatments are usually far better tolerated than standard treatments). Our team has even helped many stage 4 patients, like Lilian and Korey, to enter long-term remission – after their doctors had told them there were no more options left!

Need a PET-CT scan?

And if you’d like assistance in coordinating a private PET-CT, reach out to our team. We regularly help connect patients with our network of PET-CT clinics.

Just to add: CTOAM does not earn any commission from any person, company, or organization that we promote, work with, partner with, or recommend to our patients and clients. Any recommendations we make are completely non-biased and entirely evidence-based. This has been our policy from day one, and will remain as such.