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?

MRIs and Kids

Since Li-Fraumeni Syndrome cancers can pop up just about anywhere in the body and at any age, screening can be a bit of a challenge. There are studies currently being done to see if whole body MRI is reasonable. Preliminary studies show that people with LFS do tend to grow lots of lumps and bumps and not all of them are cancer. Part of the research conundrum with MRI screening is finding what to follow up on and what to wait and watch. We do know that catching cancer early leads to more effective treatment and potentially cure.  Many times it is the best practice to find the balance between early detection and false positives. False positives can create a lot of stress and extra time and cost to follow up.

Since we are sensitive to radiation, Magnetic Resonance Imaging can be used when possible for screening those with LFS. If you are curious about how MRI works, check out our previous blog MRI 101. There are benefits to using CT or PET/CT for diagnosis and it is always a good idea to talk to your doctor if you are concerned about radiation exposure. To learn more about the differences between MRI and PET, you can read the blog post HERE.

All of that theory aside, sometimes kids have to have scans, whether it is for injury or routine screening, the process can be frightening for a young child. I am an adult and still get scanxiety. If full body MRIs are going to be a part of your child’s routine, it is helpful to have positive experiences to start with. Many hospitals have Child Life Specialists who are trained to help your child have a better experience and ease some of their fears. If you have a child who seems to be nervous about the experience, do not hesitate to ask if your hospital has a Child Life Specialist. There are even hospitals that have mock MRI suites. For many of us in remote locations, our hospitals don’t always have these resources, but there are some things we can do to help prepare our kids for MRIs.

Always be honest with your child while giving them age appropriate information. A 3 year old can’t possibly understand screening for cancer, but they do know that they have to go to the doctor for physicals and get their teeth cleaned a couple times a year. Having an MRI for screening is like that. There is a special machine that can see inside parts of us that the doctor can’t see. As kids get older, I let their questions guide our conversations.  I talked to a couple Genetic Counselors at the 2016 REACH LFS Conference who are working on resources for this, how to talk to your child about LFS and screening. Until those resources are available, I will share with you some of the tips and resources I’ve heard about through our child life specialist and our support group to help kids with MRIs. Here is a useful link to information from the University of Chicago Children’s Hospital on preparing a child for MRI and when to prepare them based on their age.

pdf from UChicago Kids Hospital

This is a great introductory video for kids about MRI from our friends at Nationwide Children’s Hospital.

Many young children are sedated for MRI’s because they cannot hold still enough to get good images. With some practice at home and preparation, many kids can get through MRIs without sedation. It is always best to talk with the doctors at your hospital or facility about what they recommend for your child. Some MRI machines have headphones to listen to music, others even have goggles to watch DVDs on. The full body MRI series for LFS can take a couple of hours, which my kids usually count as one movie and part of another. Some people like to get the entire MRI over with in one session, others have it split up into multiple visits.  If your facility does not have music or goggles, it is good to talk to your kids about techniques to use while in the MRI. Some kids pretend they are in a spaceship blasting off and think about all the planets they will visit and the aliens they will meet, others think of it as being on a ride at Disneyland and imagine walking around the parks. Some think about their favorite books or building legos. My girls used to practice by laying under the desk and making loud noises at each other.

Getting an MRI does not hurt. There are times when contrast is used to help the doctors see better inside the body. Remember those blue pills you used to chew at the dentist to see how well you brushed? The contrast helps the MRI take better pictures and the best way to get it inside our body is through an IV. This is my kids’ least favorite part, the injection for contrast. Usually if contrast is ordered, the technicians will place an IV in before the MRI even begins. There are numbing creams that can lessen the pain, but often this is the scariest and worst part for kids.

There are several apps available online that replicate MRI sounds and talk about the whole MRI process. There are also many videos with sounds on YouTube. Here are a couple of ones we’ve used.


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itunes app screenshot

Google Play Version

This app is free on iTunes and has a lot of fun features. One down side is it only available for iPad. There is a google play version. The app has a checklist, what to wear, cartoon friends that answer common questions and help kids prepare. It shows how the machine works and the noises the MRI makes. It even has a 360 degree view so you can see what it looks like from inside the MRI. This would be great for a practice run through at home. There are example MRI images that my daughter was excited about and that she could pick objects to place in the MRI and see what they looked like.


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itunes app screenshot

This app is $1.99 and very basic. It has simple graphics and easy to understand information about an MRI. It has 6 different variations of the sounds that MRI machines make.  This was the app our Child Life Specialist uses, so I know she uses it over and over.  It is available on iPhone and iPads.

Living with LFS presents a lot of unique situations for adults and kids. We hope that some of these resources help having an MRI a little bit easier so you and your kids can get back to living.



Helping Children (and Parents) Prepare for an MRI