LFS Childhood Cancer Awareness: Choroid Plexus Carcinoma

Choroid Plexus Brain Tumors are highly associated with Li-Fraumeni Syndrome. The choroid plexus is within each ventricle in the brain; a series of vessels and tissue that are responsible for making cerebrospinal fluid that takes impurities and waste away. Tumors that grow here can block the flow of fluid and cause hydrocephalus (swelling in the brain). Choroid plexus tumors are very rare, they make up less than 1% of all brain tumors. Yet,  greater than 85% of choroid plexus tumors occur in children under the age of 5.  For more information on the tumors: Living LFS: GO Grey in May-Choroid Plexus Carcinoma

In preparation for Childhood Cancer Month, we asked our support group members to share their “minis.” Some have had cancer, some have not, there are sibs and some have passed away. I noticed a lot of minis who had or were in treatment for Choroid Plexus Carcinoma(CPC). So I asked their parents what their experiences were and if they had any words of wisdom. They did.

In the early 1990’s, clinicians were beginning to see a link between kids with Choroid Plexus Carcinoma and LFS. Yet, it wasn’t until the 2000s that there was enough data to tell. The problem with Choroid Plexus tumors – they are very rare. Li-Fraumeni Syndrome is also very rare. In order for clinicians and researchers to draw conclusions, they needed data. Unfortunately, with rare cancers, that data can be tough to get.

Chris: “I had a daughter that was diagnosed at 3 months old with choroid plexus carcinoma. Her symptoms were staring and she cried terribly when we picked her up. Her tumor was the size of a baseball. They surgically removed  it at 5 months old  and she did very well with treatment chemotherapy for two years after that. She was diagnosed with LFS during treatment, but that was 20 years ago, no one knew a lot about it then. Radiation for her was very bad, she did not do well with it at all. Soon after, she developed myelodysplasia and was too weak to recover. Summar died in 1998.”

Trust your gut. Rare conditions are not always on a doctor’s radar. So many symptoms of cancer and brain tumors are similar to a nasty virus. Many parents have to advocate to get their children the help they needed, even before LFS was diagnosed. LFS status can affect treatment decisions. 

Lyndsey: “My daughter was diagnosed at 5 months old. She was crying, lethargic, vomiting so I took her to the local ER and was sent home. The next day her fontanelle bulged out, she was not holding down fluids and was somewhat limp, so I called an ambulance. We were sent home again with no tests or answers.  The third day, my family and I broke traffic laws to get to the children’s hospital, 2 hours away, because she was basically dying. After 3 brain surgeries, 5 rounds of high dose chemo and 3 stem cell transplants, she was diagnosed with LFS during treatment. She’s 2.5 years old, is cancer free as of now and doing relatively great.”

Choroid Plexus Carcinoma generally occurs in children under the age of 2 and the survival prognosis is poor, especially in tumors that have acquired many mutations. If the child is diagnosed with a TP53 mutation, yet their parents do not have the mutation, they are considered “de novo”- a new mutation. These mutations can happen in the parent’s germ cells or at some point during pregnancy.

Camila was diagnosed at the age of 18 months with Choroid Plexus Carcinoma in the right side of her brain. The doctors said that she had only 30% chance of survival and if she survived she would be a girl with special needs without the possibility of moving.  Camila lost one part of the brain… she survived to the 14 hour brain surgery, showing everybody that she wanted to live, and started moving her legs. Now she’s 2 years and 9 months and she’s NED (No Evidence of Disease). Camila just started walking and still has problems in her immune system from the chemotherapy, but she’s getting better every day. She has an MRI every 3 months, blood work every month, ultrasound every 3 months and Physical Therapy 4 days per week. Camila has LFS and her parents are negative. She is the only one who has it in the family.

Kids and people with LFS are very sensitive to ionizing radiation, especially to the brain. Risks and benefits should be discussed with a professional team knowledgeable in Li-Fraumeni Syndrome. Recent studies show that radiation therapy for Choroid Plexus Tumors in LFS could negatively affect survival. Treatment options for Choroid Plexus Tumors include surgery and chemotherapy.

Claire Roberts: “My son was diagnosed at five months old after being seen by three doctors over a 24 hour period. They said he was teething!! His symptoms were projectile vomiting, sunsetting eyes, he had lost head control and he was basically sleeping all the time, very grizzly. Left sided weakness set in too whilst being transferred by ambulance to another hospital following diagnosis. He had hydrocephalus and now has a shunt. LFS diagnosis came much later after his brother was diagnosed with a rare sarcoma. We were offered testing though after his treatment ended. He didn’t have radiotherapy due to his age, just surgery followed by chemo intravenous and intrathecally via a reservoir directly into the ventricles. He is doing well now.”

Knowing LFS status can affect screening and treatment decisions. Many don’t know at the time of Choroid Plexus Carcinoma diagnosis that there is a TP53 mutation. Often genetic counseling and testing is recommended during treatment. Testing for hereditary conditions like LFS is a personal and even controversial decision.

“Hi I’m Jenny. Mum to Billy.  Bill was diagnosed with choroid plexus carcinoma (brain cancer) in December 2015 . He had surgery and 6 cycles of chemo. He was then diagnosed with Li-Fraumeni Syndrome. His sister, who is 3, has a 50/50 chance of having LFS, but they do not test in the UK until she can give consent.  Bill’s dad has tested positive. He’s 31 and has not had a cancer yet. Billy is doing brilliantly now. He’s 3 in May and thriving. I just get terrified that everything is going to crumble.”

Sometimes aggressive tumors like CPC come back. This can be daunting, yet there are cases of successful treatment in CPC recurrence in LFS children.

Lisanne: “Elise was diagnosed in 2010, 2012, 2016, and 2018, as well as having an Aneurism Bone cyst in skull twice in 2017. Elise lost lots of her mobility when she was three years old, but is always busy helping others and making sure others are alright and she loves pranks and art.”

Tori: “I was a CPC child. I was 9 when I was diagnosed with choroid plexus carcinoma and my symptoms were headaches, vomiting, favoring one side of my body (I am right handed but used my left hand, things like that) and was dizzy a lot. My only treatment for the CPC was surgery, it didn’t spread and was contained inside the tumor. I was diagnosed with LFS after my second cancer.”

There is HOPE. Choroid Plexus Carcinoma is nasty and aggressive. Like LFS, it is not a death sentence. There is no “one size fits all” for screening, treatment, or diagnosis. Being aware of the symptoms, trusting your gut and knowing LFS status can make a difference in survival. 

For More Information:

NIH Information on Choroid Plexus

Go Grey In May- Choroid Plexus Tumors

Successful treatment of CPC in child with LFS

Successful Treatment of Recurrent CPC in child with LFS

Should Radiation Therapy Be Avoided in Choroid Plexus Carcinoma Patients with Li-Fraumeni Syndrome?


Kortne’s Story about Learning to Live with LFS

“If you were me what would you do?”

Working as a nurse, I have been asked this question so many times. It wasn’t until I was the one asking this same question, that I could truly identify with the countless number of emotions hidden behind it. Behind this question is so much more,

it is an unsure where to start feeling,

a feeling of being scared beyond belief,

it is anxiety,

it is needing assurance,

it is searching for empowerment.

This question is the first step of processing a cancer diagnosis that is so unfair and so unwanted.

Dealing with cancer and receiving an unwanted diagnoses is a foreign world.

Understanding the disease process

awaiting pending pathology reports and diagnostic testing

preparing for ultimately bad news.

For me, this foreign world has become too familiar. Cancer chose me not once …not twice…not even three times. FOUR. Four times cancer chose me. I never chose it or anything that comes along with it! I hate cancer. But Guess what? I’m still living, I’m still enjoying my life, I’m still fighting.  As much as I hate to admit, cancer taught me so much about myself and about life. It’s easy to forget how precious being alive really is!

My first battle with cancer was at age 9. I had a rare type of sarcoma called a liposarcoma. After many appointments, tests, and scans the team of doctors recommended surgical resection. 2 surgeries later, I was deemed cancer free. Going through this experience at such a young age made me grow up faster than others my age and process thoughts that children should not have to worry about. That was my first cancer; it was also my first cancer life lesson. One that had a lasting impact on my life.

My first cancer was the “ah-ha” moment that inspired me to want to become a nurse. I like to think that this was cancer’s way to open my eyes, my heart, and my mind to see that I needed to help others through medicine. If it wasn’t for cancer would I still have dreamed of becoming a nurse to help others like I was helped? No one knows.

15 years later I received my 2nd cancer diagnosis, this time melanoma. I was guilty of using the tanning bed and laying out in the sun as any teenager does. Did I think it would cause a minor sun burn at times? Yes. Did I think it wound cause melanoma, the deadliest type of skin cancer there is? Absolutely not. I wish I knew then what I know now!

The plan of attack this time was surgery with a wide local excision to remove the cancer and check my lymph nodes with a sentinel lymph node biopsy.  Then they had to cover the gouged out area (think a putt-putt golf course hole) with a skin graph. I felt fortunate that the cancer had not spread to my lymph nodes and no further treatment was necessary. My prayers were answered and I was blessed. My life resumed, I got married, my career advanced, yet there was always a small cloud of fear hanging over me that this cancer would return or metastasize to other areas of my body.

I just could not have predicted the hard hitting craziness 3 years later in 2017. I got my flu shot the second week in October.  1 week later I developed sudden numbness and tingling in my right arm and hand, the same arm as my flu shot.  Of course I downplayed it and tried to convince myself it was a reaction to the flu shot. Nurses have a bad habit of self persuasion. It continued the next day and on the 3rd day, while I was driving to work I went to press the brake and my right leg wouldn’t move. I knew I could no longer downplay this and convince myself it was from the flu shot, it was in my best interest to see my doctor immediately.  Deep down in my heart I knew it was more.

I was scheduled for a same day MRI. As a nurse, I knew all of the symptoms I had suddenly developed over the course of 3 days pointed toward some kind of neurological diagnosis. I refused to accept that possibility. As the MRI techs locked the “bird cage” over my head, the  fear of what the MRI might show hit me all at once. I do not remember a time in my life that I had ever been so scared. The tears flowed as I was slid into the machine. I just did not want to know, but needed to know so bad all at the same time.  I was walking out of the imaging center, my phone rang and my heart dropped.

“I am so sorry I have to tell you this but the MRI showed that you have a brain tumor.”

I had so many emotions,

so many questions,

so many thoughts,

yet I was numb and spaced out.

Every bit of my medical knowledge went away and I was left with nothing not say. I needed time to absorb and time to think.

That same night as my husband and I laid there attempting to sleep, I must have had a strange feeling because I said to him in my serious patient education nurse voice “do you know what to do just in case I were to have a seizure? Not that I’m going to or anything but just in case I were to ever down the road – just roll me onto my left side and call 911.” 3ish hours later he did just that. Things moved so fast from there.

Less than 2 weeks later November 9, 2017 . I was anxiously rolling into my awake craniotomy. I knew it would forever change my life. The outcome was uncertain. I was as still and calm as possible because I knew that on the other side of the sterile drape was the man my husband, parents and I had trusted to cut into my brain. My brain!!! So crazy to think about! As the hours went by, I was constantly communicating with the physician’s assistant who was under the drape with me, evaluating my neurological status the entire time. He never left me and I was not fearful because I wasn’t alone under there.

Flash card after flash card and a series of zings and zaps to test for feeling in my limbs and it was finally time for the intra-op MRI. This showed a small amount of residual tumor and my surgeon elected to go back in after it. At this point, he said I would be put to sleep for the last part of the surgery and would wake up in recovery. Call me crazy, but I asked to be allowed to stay awake for the remainder of surgery. My thoughts were- if I was asleep I would not be able to tell the surgical team if I had any “weird feelings or sensations.” I was the only one who knew what I was feeling in my own body and I wanted to make sure I did everything in my power to get the best end result! It was no surprise that I was the first patient to ever make this request. Maybe it is my interest in the medical world or maybe I’m just crazy.

Living with a Brain Cancer diagnosis turns your world upside down. There is no cure. The pathology of my tumor came back, Astrocytoma Grade II. With this diagnosis and it being my 3rd primary cancer, I was referred for genetic testing. Genetic Test results came back showing that I have a condition called Li-Fraumeni Syndrome (LFS) which is linked to a mutation in the TP53 tumor suppressor gene. People with this mutation have a much higher risk of developing cancer or multiple cancers in their lifetime. Mission accomplished, I guess.

I previously thought that I had to be the unluckiest human on the planet. The diagnosis helped make sense of the cancer, finally an answer. LFS is not only emotionally overwhelming but comes with an overwhelming amount of MRIs and other screenings. This caused a new condition- extreme “scanxiety” being fearful of what may be found and what possibilities I could face next. I  completed the recommended imaging and all that was left on the to-do list was an EGD and a colonoscopy.  I was not particularly worried about either since the MRI of my chest, abdomen, and pelvis showed no signs of malignancy. I figured I had nothing to worry about, right?

After waking up from the procedure I was told the doctor would come talk to me in a small room outside of the recovery suite. “EGD looked great, but there is an area in your descending colon that I am very concerned is cancer.” A phone call a few hours later confirmed that I did indeed have colon cancer. The news itself was terrible and the fact that I had been diagnosed with brain cancer 4 months earlier made it almost impossible to process. I was reminded again how much I hate cancer.

In April 2018, I had a a left colectomy and lymph nodes removed. The pathology returned as stage 3b with lymph node involvement. My medical team’s treatment plan for me is 12 cycles of FOLFOX chemotherapy.  My personal life plan remains the same as always, to be tougher than cancer, any and all cancers. I want to be the light to others and share my story to show that even though sometimes cancer tries to suck the life out of us, we can not let it.

Life can still be wonderful in countless ways! We are blessed in so many ways.
It’s hard to figure out how exactly to plan like you will live forever while living like you are dying at the same time. I do not know what my future holds and the unknown is always the scariest part! Being only 28, this is an “adulting” situation I still have to figure out. The one thing I do know is that LFS and cancer has changed my life and the lives of my family and those who love me. I have faith in God’s plan for my life and that good will come from all of the bad.

I stopped thinking I have to have a 5 year plan or a 10 year plan and learned to just live.

To make the most of every day.

To do the things that make you happy.

To spend your time with those that mean the most.

To find the goodness in tragedy.

To go on the trips.

To take lots of pictures.

To cherish making memories.

To love all the sloppy dog kisses.

To eat macaroni and cheese for breakfast.

To try new things. To learn new things.

To be kind to everyone you meet.

To right all wrongs.

To be best person you can be. And to share my story to help someone else .