Categories
Alimta (pemetrexed) Carboplatin Chemotherapy Clinical Trials Immunotherapy Keytruda (pembrolizumab) Lung Cancer Non-Small Cell Lung Cancer Patient Stories Radiation Therapy Treatments

Natalie’s Stage 4 Non-Small Cell Lung Cancer Story

Natalie’s Stage 4 Non-Small Cell Lung Cancer Story

Interviewed by: Nikki Murphy
Edited by: Chris Sanchez

Natalie, who hails from Atlanta, GA, was diagnosed with stage 4 non-small cell lung cancer in June 2020. Her diagnosis followed a challenging 6-month period of inconclusive tests and misdiagnoses due to her age and non-smoking status. Her doctors initially attributed her symptoms, primarily fatigue and a persistent cough, to less serious conditions such as allergies or asthma. Despite undergoing multiple diagnostic procedures, including x-rays, CT scans, biopsies, and PET scans, Natalie only received her cancer diagnosis after one of her lungs collapsed during a biopsy.

Natalie was overwhelmed by the stage 4 diagnosis, associating the prognosis with a death sentence. Her cancer had already spread to both lungs and her lymph nodes, and her oncologist confirmed that there was no definitive cure. Natalie immediately began chemotherapy and immunotherapy treatments. While she managed the physical side effects, particularly severe fatigue, she continued working throughout her treatment, with few people aware of her diagnosis.

Over the course of 4 years, Natalie underwent 2 clinical trials after her cancer progressed, neither of which were successful. The first trial, at Emory Hospital, left her feeling worse than she did on chemotherapy and required multiple hospital visits. The second trial, in Nashville, produced no significant side effects. After these trials failed, she returned to chemotherapy, which has stabilized her cancer’s growth for now.

Beyond the physical challenges, Natalie has also struggled with the mental toll of her stage 4 non-small cell lung cancer. Therapy, her husband’s unwavering support, and her close-knit group of friends and family have been essential to her well-being. She acknowledges that at times she considered giving up treatment due to exhaustion but found renewed determination through the support of her loved ones and her desire to live and experience more of life.

Recently, Natalie’s pulmonologist informed her that she might be a candidate for a double lung transplant, a procedure that could potentially offer her a cure. She is in the early stages of the process and hopes that her cancer remains confined to her lungs so she can be placed on the donor list.

Natalie emphasizes the importance of advocating for lung cancer awareness, noting that anyone with lungs is at risk, not just smokers. She encourages others facing similar challenges to try to keep going, acknowledging the mental and physical difficulties of battling cancer. Her message is one of resilience and the importance of not giving up, even when the path is painful and difficult.


  • Name:
    • Natalie B.
  • Age at Diagnosis:
    • 33
  • Diagnosis:
    • Non-small cell lung cancer
  • Staging:
    • Stage 4
  • Initial Symptoms:
    • Persistent cough
    • Fatigue
  • Treatment:
    • Chemotherapy (Carboplatin, Alimta)
    • Immunotherapy (Keytruda)
    • Clinical trials
    • Radiation (palliative)

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Thank you for sharing your story, Natalie!

Inspired by Natalie's story?

Share your story, too!


Related Cancer Stories

More Lung Cancer Stories

Lisa G., Non-Small Cell, ROS1+, Stage 4 (Metastatic)



Symptoms: Persistent cough (months), coughing a little blood, high fever, night sweats
Treatment: Chemotherapy (4 cycles), maintenance chemo (4 cycles)
...

Tara S., Non-Small Cell Lung Cancer, ALK+, Stage 4 (Metastatic)



Symptoms: Numbness in face, left arm and leg

Treatments: Targeted radiation, targeted therapy (alectinib)
...
More Non-Small Cell Lung Cancer Stories
Yovana

Yovana P., Invasive Mucinous Adenocarcinoma (IMA) Non-Small Cell Lung Cancer, Stage 1B



Symptom: No apparent symptoms

Treatment: Lobectomy of the left lung

Dave B., Neuroendocrine Non-Small Cell Lung Cancer, Stage 1B



Symptoms: Two bouts of severe pneumonia despite full health
Treatment: Lobectomy (surgery to remove lobe of lung)

Terri C., Non-Small Cell Lung Cancer, KRAS+, Stage 3A



Symptoms: Respiratory problems
Treatment: Chemotherapy (cisplatin & pemetrexed), surgery (lobectomy), microwave ablation, SBRT radiation

Heidi N., Non-Small Cell Lung Cancer, Stage 3A



Symptoms: None; unrelated chest CT scan revealed lung mass & enlarged mediastinal lymph nodes
Treatment: Chemoradiation

Tara S., Non-Small Cell Lung Cancer, ALK+, Stage 4 (Metastatic)



Symptoms: Numbness in face, left arm and leg

Treatments: Targeted radiation, targeted therapy (alectinib)
Categories
Chemotherapy Domvanalimab fluorouracil 5fu FOLFOX (folinic acid, fluorouracil, oxaliplatin) Immunotherapy nivolumab (Opdivo) Patient Stories Stomach Cancer Treatments Zimberelimab

Melissa’s Stage 4B Stomach Cancer Story

Melissa’s Stage 4B Stomach Cancer Story

Interviewed by: Nikki Murphy
Edited by: Chris Sanchez

Melissa, a resident of Clarksville, TN, was diagnosed with stage 4b metastatic gastric adenocarcinoma, a form of stomach cancer, following a challenging diagnostic process that began in late 2021. After a mild case of COVID-19, she experienced persistent throat discomfort, but initial visits to specialists yielded no conclusive results. Doctors initially attributed her symptoms to acid reflux and anxiety. In September 2022, while vacationing in Mexico, Melissa experienced nausea and vomiting, but she dismissed it, believing it was a urinary tract infection.

Upon Melissa’s return home, her massage therapist noticed something unusual in her back, prompting her to seek further medical evaluation. A proactive primary care physician ordered an ultrasound, revealing gallstones, and Melissa underwent gallbladder surgery. Although she initially felt better, nausea returned, and an endoscopy revealed a paralyzed stomach and, ultimately, a mass near her esophagus. Biopsies confirmed that Melissa had invasive adenocarcinoma, a diagnosis that left her and her family in shock.

In December 2021, Melissa began treatment with FOLFOX chemotherapy and two trial immunotherapy drugs, zimberelimab and domvanalimab. Despite an initial prognosis that gave her less than a year to live, Melissa responded remarkably well to treatment. By April 2023, her scans showed no evidence of disease, an unexpected outcome given the aggressive nature of her cancer. She celebrated by ringing the cancer center’s bell, a significant milestone in her journey.

However, Melissa’s joy was short-lived. In early 2024, a small cancerous lymph node was detected, leading her to resume treatment with chemotherapy and Opdivo, a different immunotherapy. The side effects, including severe pain and weight gain, were intense, but she continued to fight. After several rounds of treatment, another scan showed no evidence of disease. Yet, in August 2024, her Pet scan revealed another recurrence, requiring further treatments. She likens her cancer battle to a game of “whack-a-mole.”

Despite the physical and emotional toll, Melissa remains resilient, supported by her medical team and faith. She credits her Christian doctors, who prayed with her before procedures, for their compassionate care. Now, Melissa continues treatment, grateful for her improved quality of life, and cherishing every day as a gift.


  • Name:
    • Melissa W.
  • Diagnosis:
    • Gastric adenocarcinoma (stomach cancer)
  • Staging:
    • Stage 4b
  • Initial Symptoms:
    • Feeling like something was in her throat
    • Occasional nausea
    • Acid reflux
    • Occasional feeling of having boiling water in her stomach
    • Soreness in the bottom of her ribcage
  • Treatment:
    • Chemotherapy (FOLFOX)
    • Immunotherapy (zimberelimab, domvanalimab, Opdivo)

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Thank you for sharing your story, Melissa!

Inspired by Melissa's story?

Share your story, too!


Related Cancer Stories

More Stomach Cancer Stories
Lauren C. feature profile

Lauren C., Stomach Cancer, Stage 1, CDH1+



Symptoms: Irregular bowel movement (stomach bile), extreme pain eating certain foods or drinking alcohol

Treatment: Total gastrectomy (surgery to remove whole stomach)
...

Viola K., Stomach Cancer, Stage 4



Symptoms: Persistent fatigue, Weight loss, Occasional pain, Persistent weakness

Treatments: Chemotherapy (FLOT), HIPEC (Surgery + Hot Chemotherapy), 2nd intestinal surgery

...
Alyssa B. feature profile

Alyssa B., Stomach Cancer, Stage 4



Symptoms: Fatigue, elevated resting heart rate, heartburn, difficulty swallowing, weight loss
Treatments: Chemotherapy, surgery (gastrectomy & oophorectomy)
...
Jeff S. feature profile

Jeff S., Stomach Cancer, Stage 4



Symptoms: None; found during the evaluation process for kidney donation
Treatments: Surgery (partial gastrectomy & nephrectomy), chemotherapy (oxaliplatin & capecitabine), radiation
...

Brittany D., Stomach Cancer, Stage 1



Initial Symptoms: Choking suddenly while eating and attempting to speak; neck and right shoulder pain; neck tightness; trouble swallowing certain food items
Treatment: Surgery (subtotal gastrectomy, D1 lymphadenectomy, gastric bypass)...
Categories
Bevacizumab Chemotherapy Colon Colorectal FOLFIRI (folinic acid, fluorouracil, irinotecan) Immunotherapy Patient Stories Treatments

Monica’s Stage 4 Colon Cancer Story

Monica’s Stage 4 Colon Cancer Story

Interviewed by: Taylor Scheib
Edited by: Chris Sanchez

Monica, a 32-year-old Australian living in Croatia, shares her journey battling stage 4 metastatic colon cancer. Initially, she mistook her abdominal pain for digestive issues and stress. After multiple misdiagnoses, her condition worsened in January 2024 when her stomach swelled so badly that she was unable to stand. Emergency surgery revealed a 4-centimeter tumor that was obstructing her intestines. Further testing found that the cancer had spread to para-aortic lymph nodes.

Monica underwent chemotherapy and has been navigating treatment with resilience, even as she faced delays like that occurring due to her contracting COVID-19 before a crucial surgery. Chemotherapy reduced the size of her cancerous lymph nodes, and she is also on immunotherapy.

While the physical toll on Monica has been significant—causing her to lose hair and endure digestive issues—she remains pragmatic, and finds solace in maintaining an active lifestyle, walking her dog, and focusing on her recovery. She reflects on the emotional impact of her diagnosis, stating that she was not initially devastated. Instead, she quickly adjusted to the situation, finding humor in some of the challenging moments, such as learning to live with a temporary stoma. She acknowledges that the hardest part may come after treatment, living with the uncertainty of remission.

Monica also uses her experience to advocate for cancer awareness on TikTok, where she discusses her journey to inspire others. Her content has resonated with women, who reach out to express gratitude for her openness. Monica stresses the importance of colonoscopies and challenges the tendency of doctors to dismiss symptoms like hers as irritable bowel syndrome (IBS), especially in young women.

Despite the difficulties, Monica chooses to maintain a positive outlook. She is determined to fight the disease and rejects the notion that cancer must define or consume her life. She believes cancer should be viewed as an accessory rather than a death sentence and emphasizes the importance of staying active, both mentally and physically. Monica’s story highlights the power of community, as her friends in Croatia have rallied around her during treatment, offering support and care when her family in Australia is far away.


  • Name:
    • Monica A.
  • Age at Diagnosis:
    • 31
  • Diagnosis:
    • Colon cancer
  • Staging:
    • Stage 4
  • Initial Symptoms:
    • Recurrent pain in side
    • Severely swollen stomach
  • Treatment:
    • Surgery (removal of tumor and cancerous lymph nodes)
    • Chemotherapy (Folfiri)
    • Immunotherapy (bevacizumab)

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Thank you for sharing your story, Monica!

Inspired by Monica's story?

Share your story, too!


Related Cancer Stories

More Colon Cancer Stories
 
Raquel A. feature profile

Raquel A., Colorectal Cancer, Stage 4



Symptoms: Frequent bowel movements, pin-thin stools, mild red blood in stool
Treatments: Chemotherapy (oxaliplatin, 5-fluorouracil, and irinotecan)
Steve S., Colorectal Cancer, Stage 4

Symptoms: Blood in stool, changes in bowel habits, feeling gassy/bloated

Treatments: Surgery to remove tumor, chemotherapy (FOLFIRI), monoclonal antibody (panitumumab), liver transplant
Jessica T. feature profile

Jessica T., Colon Cancer, Stage 4, BRAF Mutation



Symptoms: Severe stomach cramps, diarrhea, vomiting, anemia (discovered later)

Treatments: Surgery (hemicolectomy), chemotherapy

Categories
myelofibrosis Patient Stories

Holly’s Myelofibrosis Story

Holly’s Myelofibrosis Story

Interviewed by: Taylor Scheib
Edited by: Chris Sanchez

Holly was only 25 when she was diagnosed with primary myelofibrosis.

Holly’s diagnosis was only one of a series of sad and traumatic occurrences at that particular time in her life. She had earlier lost her unborn daughter at 32 weeks due to a blood clot that passed through her placenta, and had to be placed in intensive care afterwards due to the discovery of more blood clots elsewhere in her body. Two weeks afterwards, she experienced a seizure and thrombosis stroke. 

Over the succeeding year, Holly increasingly experienced symptoms that led to her undergoing a bone marrow biopsy, which revealed her cancer. What’s more, she discovered that her cancer might actually have had something to do with her daughter’s passing.

Holly continues to grieve her loss, but her life has begun to take a turn for the better. Her treatments have been effective—and she is now expecting another little girl. 

Holly’s story is a testament to her resilience, the inner strength she gained, and her ability to glimpse the blessings in her life behind all her negative experiences. She shares her story with us today to help others who may find themselves in similar situations. 

In addition to Holly’s narrative, The Patient Story offers a diverse collection of stories about myelofibrosis. These empowering stories provide real-life experiences, valuable insights, and perspectives on symptoms, diagnosis, and treatment options for cancer.


 
  • Name: Holly S.
  • Diagnosis:
    • Primary myelofibrosis
  • Initial Symptoms:
    • Severe fatigue
    • Throbbing pain in left calf
    • Significant weight loss
    • Itching and rashes
    • Bruising
    • Shortness of breath
  • Treatment:
    • Oral chemotherapy: hydroxyurea
    • Immunotherapy injections: peginterferon

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


I feel like I can overcome anything as long as I just remain positive.

Introduction

My name is Holly. I’m from Invercargill. It’s a small city at the bottom of New Zealand.

I am a single mum to a boy called Ambrose, who is five, turning six in October.

I was recently diagnosed with primary myelofibrosis in September of 2023.

And, yeah, just been navigating life as a single mum and just dedicating my time to him. Whilst dealing with this.

Pre-diagnosis

Initial symptoms

My first real symptoms of primary myelofibrosis basically start back in 2021 and April. 

I was 32 weeks with my daughter and I started getting pain in my calf, just throbbing pain.

So I was getting constant massages to try get rid of it. Initially thought it was pre-eclampsia. I was also experiencing extreme fatigue a lot throughout the pregnancy. 

And then one day I was in the supermarket and I started getting a lot of pressure in my abdomen. I didn’t really think much of it and went home. 

And then I started having contractions around 9 p.m. and they lasted until 3 a.m. I started experiencing fevers and sweats and because I had had such a horrible experience with my previous midwife, with my son, I left it and I didn’t want to bother my current midwife. 

And so then I’d contacted her in the morning about it, and we went down to the hospital. 

She did an ultrasound and found that there was no heartbeat. 

Loss of her daughter

So then I had to give birth to my daughter. And it was just a horrific, horrific delivery. 

Yeah, it lasted for a few days, and I was put on these inducing pills. They gave me too many of them. And her head basically went through my uterus; I suffered a uterine rupture during labor.

So then I was rushed into theatre, and I lost 1.5 to 1.7l of blood. After that, I was in an ICU for about a week due to complications, including pneumonia. 

I had a really high heart rate. I had heart failure. And they didn’t really understand what was going wrong.

And then they found that I had had a blood clot in my heart, in my lungs, and a DVT (deep vein thrombosis) in that right calf. So I’m guessing all the massaging had possibly broken the blood clot off into different parts of my organs. 

So they think they also think that it caused my daughter’s death. A blood clot had passed through my placenta, causing a placental abruption.

Seizure and stroke

So I left hospital, and then two weeks later, I had a seizure and a stroke, and I was rushed back into hospital. They had found that I had had a thrombosis stroke in my brain. 

So I was put on warfarin for well over six months max. And then, originally the hematologist thought that I had blood clotting disorder.

So she put me on warfarin, then took me off it for about a year just to see how my blood platelets were going to be. And they weren’t coming down, they were rising. 

Discovery and diagnosis

That’s when I started having my other symptoms. And they came on quite, quite quickly because I wasn’t on any sort of medication at that time. 

I started just being extremely, extremely fatigued. My arms were really, really weak. I lost 20kg without even trying, within 3 months. 

I started bruising, like all over my body and the weirdest places. Itching. Crashing randomly. Constant shortness of breath. 

It was it was horrible and I just I couldn’t function at all. Throughout the day. 

So then the doctor sent me to have a bone marrow biopsy. I was officially diagnosed with primary myelofibrosis in September 2023.

Reaction to the diagnosis

I guess that unknown feeling I felt within those two years of not knowing. It’s sort of hard to really know. I guess I was just going through day by day. 

I initially thought because I had two blood transfusions, I thought that it was all the blood transfusions that were actually causing all these symptoms, and I just thought that was normal. And I also thought because of all the physical complications I went through, my body was taking a longer time to try and heal from all of that. 

And then, straight after all of that, I was thrown straight back into being a parent, single parent. Yeah, it was pretty crazy.

So when I went in for the bone marrow biopsy, I felt really numb to it all, I think because so much had happened previously, I was just on autopilot, like, okay. Yep. We’ll do this. 

After I got the diagnosis, I was absolutely distraught because I didn’t know much about the disease at the time. 

And I didn’t know anything. If I was going to lose all my hair, or if I was going to have to take more time being away from my son. So many thoughts running through my head.

But there’s more. As it turns out, my cancer might have had something to do with my daughter’s passing.

When my cancer was diagnosed, they didn’t really say that they thought that I had it when my daughter had passed. It wasn’t until a few months ago that they had sort of written it in doctor’s notes, speculating that it had caused my daughter’s passing and that I’d had it while I was pregnant with her. 

But yeah, the feelings around it. I was more so angry at the hospital and my midwife for not monitoring me closely enough, but I guess they couldn’t really do anything about it. 

But yeah, it was a terrible, terrible time. I really lost myself and my relationship fell apart; I just wasn’t coping. 

I had turned to drinking a lot, so that was like my medication while trying to be a single mum and trying to just push, push forward. 

And yeah, so when they had told me that they thought that I might have had it when I was pregnant with my daughter, I’d already had a huge feeling that it had caused it before they even said anything.

Treatment

Oral chemotherapy: hydroxyurea

My treatment plan was to go on an oral chemotherapy called hydroxyurea

So I started on 500mg. My platelets weren’t really doing anything. So they were going to double the dosage. 

Discovery of pregnancy, and shift to immunotherapy injections: peginterferon

And then a week later I found out I was pregnant. And I was a mess because I thought, I’m gonna have to terminate this baby. 

Then they congratulated me, and put me on peginterferon. It’s immunotherapy that’s administered through an injection. I do this myself, once a week, on Sunday nights.

So I’ve been on peginterferon and aspirin, um, throughout this pregnancy and it’s brought my platelets right down. 

I’m also on clexane as well, just to prevent blood clotting.

I’ve been in normal range for the last few months, and I’ve felt the best that I’ve felt in the last few years, and everything’s just looking amazing with this pregnancy. 

So I’ve been really privileged, even, I guess, divinely orchestrated.

Side effects

That being said, I’ve been experiencing some side effects for the immunotherapy.

I’ve had a lot of hair thinning, acne, a lot of fatigue. And loss of appetite. I don’t really have much of an appetite. I’ve started bruising again, too.

But I actually had more symptoms with the hydroxyurea than I did with the peginterferon.

So at this point I don’t have any bone marrow scarring. I just have a lot of fibrosis.

Looking forward

New treatment plans haven’t been discussed with me at all because I’m pre fibrotic with the primary myelofibrosis. 

So they for now they haven’t discussed anything with me. And I am open to other treatments if need be. 

A stem cell transplant has been brought up. But I’m sort of on the fence about it, because I’ve heard such horrific stories of people that have gone through it.

I don’t know if I want to put myself through that.

… over time, this cancer, it’s really taught me how resilient I am. And how much I’ve just trusted that whatever’s meant for me is meant for me. 

Even if the cancer does get worse over time, it really has taught me to live in the moment and live in stillness and just be grateful for even the smallest things. 

Takeaways and lessons

In the beginning, my mental health was really, really bad. I was thinking the worst of everything. 

But then over time, this myelofibrosis, it’s really taught me how resilient I am. And how much I’ve just trusted that whatever’s meant for me is meant for me. 

Even if the cancer does get worse over time, it really has taught me to live in the moment and live in stillness and just be grateful for even the smallest things. 

Yeah, it’s been a huge challenge, but it’s been one of the best things to happen to me as regards my mindset. 

I feel like I can overcome anything as long as I just remain positive.

I guess I also really started to find myself. After I got diagnosed with myelofibrosis, I had an answer as to why my daughter passed away. And then I knew that it wasn’t my fault, because for a long time I blamed myself. And I felt that I could finally move forward. I had that closure.

Then that’s when the healing really started. So when, when they got the diagnosis, the healing really started. So I guess it was a little blessing in disguise, even though it was what caused it all.

Now, I’m pregnant with another little girl. I have obstetricians monitoring me every four weeks, and also multiple scans. 

I am 33 weeks at the moment, and they’ve planned all these scans to make sure that everything’s fine. I’ve got phone consults with my hematologist, monthly blood tests. 

And my midwife, she’s amazing. She was like, don’t worry. If you know you have an issue, just ring me and I’ll come down in the middle of the night. We can check. She’s very, very onto it. 

And she’s always happy to do extra tests and scans and things to make sure that everything’s good. So they’ve really looked after me now, this time round.

I’m due on the 2nd of July, but they’re going to get me an early C-section at 37 weeks due to the uterine rupture that I previously had.

In closing, I guess my message is, you know your body better than anybody else does. 

If you have an inkling of whether you’re pregnant or you may have cancer if you have an inkling that there’s something wrong—put yourself first and go and get it checked.


Thank you for sharing your story, Holly!

Inspired by Holly's story?

Share your story, too!


Related Cancer Stories

More Myelofibrosis Stories
Stacy S.

Stacy S., Myelofibrosis



Symptoms: Fatique, cold hands and feet
Treatments: Agrylin (for thrombocythemia), Ruxolitinib (Jakafi), Fedratinib (INREBIC), stem cell transplant
Ruth R., Myeloproliferative Neoplasm (MPN)Symptoms: Anemia, bleeding Treatments: Chemotherapy, clinical trial
Natalia's Myelofibrosis Story
Natalia A., Myelofibrosis Symptoms: Anemia, fatigue, weakness, shortness of breath Treatments: Phlebotomies, iron pills, blood transfusion

Mary L., Myelofibrosis



Symptoms: Fatigue, extreme dizziness (later diagnosed as vertigo)
Treatments: Pegasys, hydroxyurea (current)
Kristin D.

Kristin D., Myelofibrosis



Symptoms: None; caught at routine blood work
Treatment: Stem cell transplant
Joseph C. feature profile

Joseph C., Myelofibrosis



Symptoms: None; caught at routine blood work
Treatment: Clinical trial: VONJO (pacritinib)

Jeremy S., Myeloproliferative Neoplasm



Concurrent Diagnoses: Polycythemia vera (PV) & Chronic Lymphocytic Leukemia (CLL)

Holly S., Myelofibrosis



Symptoms: Severe fatigue, throbbing pain in left calf, significant weight loss, itching and rashes, bruising, and shortness of breath

Treatments: Oral chemotherapy (hydroxyurea), immunotherapy injections (peginterferon)
Doug A. feature profile

Doug A., Myelofibrosis



Symptom: Fatigue
Treatments: ruxolitinib, selinexor (clinical trial)
Cathy T. feature profile

Cathy T., Myelofibrosis



Symptoms: None; caught at a routine blood test
Treatment: Stem cell transplant
Ben H.

Ben H., Myelofibrosis



Symptoms: None; caught at a routine blood test
Treatments: Hydroxyurea & aspirin, ruxolitinib
Andrew SchorrDiagnosis: Myelofibrosis, Chronic Lymphocytic Leukemia (CLL)Treatment: Clinical trial, Gazyva, Jakafi, Increbic, Reblozyl and steroids
Andrea S. feature profile

Andrea S., Myelofibrosis



Symptoms: Fatigue, anemia
Treatments: Targeted therapy (JAK inhibitor), blood transfusions, allogeneic stem cell transplant
Categories
FAQ Lung Cancer

Biomarker Testing

Biomarker Testing

You may have heard your care team mention the possibility of biomarker testing when trying to develop a plan of action for diagnosis or a potential diagnosis of cancer. While biomarker testing has been around since the 1950s, it’s not a term you come across often if you aren’t in the medical field. 

Biomarker testing is an effective tool for doctors to help identify targeted therapies for driver mutations or issues with the immune system for cancer patients. 

In this article, we will help you better understand what biomarker testing is and answer any questions that you may have about biomarker testing. This way you can make an informed decision about what is best for you and your body. 

What is Biomarker Testing?

Biomarker testing, also known as molecular or genomic testing, is the use of a laboratory test to measure biomarkers found in your bodily fluids or tissue. A biomarker is a biological molecule found in any bodily fluid that may indicate a sign of abnormality as in a disease or a condition. 

Doctors are able to use the tissue of a tumor to test for abnormalities in its DNA and levels of specific proteins in the tumor in order to identify what is causing the tumor to grow. In turn, they can then apply targeted therapy that will help remove the cancerous cells without damaging healthy cells. 

Why is Biomarker Testing Useful for Cancer Patients?

Biomarker testing is a great tool for cancer patients because it allows your care team to diagnose the type of cancer. This in turn can help your doctor determine the best treatment plan.

According to the National Cancer Institute (NCI), biomarker testing can also be used to identify genes the may lead to cancer or see how your treatment plan is progressing. 

“It’s helped us on three different occasions not only with diagnosis, but on each time that he had progression of his cancer, the liquid biopsy was able to say, here’s the mutation, here’s the new mutation, and here’s the direction the clear plot path that you need to take for survival.”

Read more about Rhonda’s success with Biomarkers

When Should I Consider Biomarker Testing?

The National Institutes of Health recommends biomarker testing for all patients with non-small cell lung cancer. Biomarker testing can also be useful for several other types of cancer including melanoma and breast cancer.

Three key times you should consider asking your doctor about biomarker testing are:

  • When your doctor suspects cancer and you are getting a biopsy done.
  • If you have been diagnosed with cancer but did not get biomarker testing done.
  • If lung cancer reoccurs after treatment

Essentially, if you are diagnosed with lung cancer you should discuss the potential for biomarker testing with your doctor.

“I wish I had actually asked for the full biomarker testing to see what their report was and ask questions about it. Cancer runs in my family, but I had done genetic testing. I didn’t understand this was different testing.”

Read More about Terri’s lung cancer story

Which Types of Biomarker Testing Should I Be Asking For?

There are two types of biomarker testing that should be done if you’ve been diagnosed with or your doctor suspects lung cancer:

  • Driver Mutations – an error in a gene’s DNA
  • Expression of PD-L1 – an immunotherapy biomarker

Let’s dive further into the two types of biomarker testing to understand what they indicate and how they impact your treatment plan.

Driver Mutations

In order to understand driver mutations, it’s important to understand the basics of how genes and DNA work. 

DNA makes up genes. When everything is working normally each gene has its proper DNA code which then results in the production of proteins. 

mutation occurs when a gene has an error in its DNA. Mutations are normal and happen often. A single mutation likely won’t cause cancer; however, the accumulation of multiple mutations over time is what typically results in cancer. 

Mutations are often sorted into two general categories:

  • Somatic (acquired) – The mutation is limited to just the tumor and is not passed to offspring.
  • Germline (inherited) – The mutation is present in all cells of the body and can be passed to offspring. 

There are several different types of driver mutations that can result in cancer. Some of the most common ones include:

  • Activating Mutation – The protein is always active.
  • Fusion – The fusion of one gene with another.
  • Amplification – More copies of a gene than normal.
  • Deletion – Part of or the entire gene is missing. 

Research has so far found 20 different driver mutations commonly found in non-small cell lung cancer treatment and small cell lung cancer treatment. Much more research is needed to continue identifying the potential mutations and develop targeted therapies. 

Expression of Programmed Death Ligand 1 (PD-L1)

The testing of your PD-L1 levels is what helps identify if you need immunotherapy. According to the National Library of Medicine, a PD-L1 test helps measure the amount of PD-L1 on cancer cells. 

This is important because PD-L1 proteins are what prevent your T-cells, otherwise known as immune cells, from attacking the cancer cells. Essentially, the abnormal cancer cells are hiding behind the PD-L1 proteins to stop your body from doing its job.

To learn more about immunotherapy visit our FAQ page.

“If you catch a patient stage one, you can have a greater than 90% chance of curing that patient from lung cancer. So that’s what it’s all about.”

– Dr. Michael Gieske

Read more about Dr. Gieske’s fight for early lung cancer screening.

Are There Different Types of Biomarker Testing?

Yes, there are several different biomarker tests that can be done. The type of biomarkers and test that is performed depends on the type of cancer that you may have. 

Some common tests include:

  • Single Biomarker Test – Only looking for one single biomarker.
  • Multigene Test – Looking at a panel of several different biomarkers.
  • Whole-Exome Sequencing – Looking at all of the genes in your cancer.
  • Whole-Genome Sequencing – Looking at all of the DNA in your cancer.
  • Tumor Mutational Burden Testing – Looking at genetic changes in your cancer to determine if you need immunotherapy.
  • Liquid Biopsies – Assessing blood or other bodily fluids for biomarkers.

The type of biomarker that is run depends on your cancer type and what your doctor is trying to learn from the test. 

How is Biomarker Testing Done?

An important part of deciding if biomarker testing is right for you may be how the actual test is performed. The test can be done in one of three ways depending on the type of biomarkers that are being tested for:

  • If you are having surgery, the surgeon can take a sample of your tumor during the operation.
  • They may need to take a biopsy of your tumor if you aren’t having surgery.
  • Some biomarker tests can be completed using just a blood draw.

In some instances, you may need to get an additional biopsy done if the cancer is reoccurring, or they didn’t get enough tissue to complete the test.

What Will My Biomarker Test Reveal?

The results of your biomarker test may help identify the best course of treatment by indicating what type of mutation is causing your cancer or if you are a candidate for immunotherapy. If there is an FDA-approved drug to treat your results you may be able to avoid chemotherapy or even potentially surgery.

“Research is going to biomarker testing that’s going towards targeted therapy. That’s the future of cancer care. That’s not just about lung cancer. So as we make it more people more aware of biomarker testing that goes across all cancers, that’s an education that is critical research.”

Read more about Chris Draft’s experience with lung cancer and his efforts to build awareness.

Biomarker Testing Patient Stories

Learn about how biomarkers impact a cancer diagnosis and treatment from real-life patients.

Lung Cancer

Chris Draft



Background: Chris' wife Keasha passed away from stage 4 lung cancer one month after they married. He's been a passionate lung cancer advocate ever since.
Focus: Leading with love, making connections to grow lung cancer community, NFL liaison

Rhonda & Jeff Meckstroth



Background: Jeff was diagnosed with stage 4 lung cancer and given months to live, but his wife, Rhonda, fought for a specialist that led to biomarker testing and better treatment options
Focus: Education of biomarker testing for driver mutations, patient and caregiver self-advocacy

Terri C., Non-Small Cell Lung Cancer, KRAS+, Stage 3A



Symptoms: Respiratory problems
Treatment: Chemotherapy (cisplatin & pemetrexed), surgery (lobectomy), microwave ablation, SBRT radiation

Stephen H., Non-Small Cell, ALK+, Stage 4 (Metastatic)



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Shortness of breath, jabbing pain while talking, wheezing at night
Treatment: Targeted therapy (alectinib), stereotactic body radiation therapy (SBRT)

Shyreece P., Non-Small Cell, ALK+, Stage 4



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Heaviness in arms, wheezing, fatigue
Treatment: IV chemo (carboplatin/pemetrexed/bevacizumab), targeted therapy (crizotinib, alectinib)
Breast Cancer
Francina B.


Francina B., Breast Cancer, Stage 2B



Initial Symptoms: None
Treatment: Surgery (lumpectomy, removal of cancerous sentinel nodes); Chemotherapy (doxorubicin, paclitaxel); Radiation

Abigail J., Metastatic Breast Cancer, HER2-low, PIK3CA+



Symptoms: Back and leg pain, lump in breast



Treatments: Surgery, chemotherapy, radiation, CDK4/6 inhibitors
Leukemia
Mary Clare

Mary Clare B., Acute Myeloid Leukemia (AML)



Symptoms: Extreme fatigue, upset stomach, bad & persistent headaches
Treatments: Chemotherapy, radiation, bone marrow transplants

Medical Experts on Biomarkers

Dr. Saad Usmani

Saad Z. Usmani, MD



Dr. Saad Usmani, Chief of Myeloma Service at Memorial Sloan Kettering, talks about CAR T-cell therapy, bispecific antibodies, novel therapies and combination therapies.

Deciding Best Myeloma Treatment for a Patient Using a New Strategy



Focus: Possible way of determining optimal treatment for patients without them having to go through treatment first, via using new approaches of studying tumors outside the body, gene expression, and computational data.
Featuring: Praneeth Sudalagunta, Ph.D, Moffitt Cancer Center

Tim Fenske, MD, MS



Role: Hematologist-Oncologist
Focus: chronic lymphocytic leukemia (CLL) & leukemia and lymphoma | CAR T, targeted therapy
Provider: Medical College of Wisconsin

Irene Ghobrial, MD



Role: Clinical investigator and professor of hematological oncology
Focus: Multiple myeloma, Waldenström’s Macroglobulinemia, early screening, clinical trials
Provider:Dana-Farber Cancer Institute (Boston)