What is Choroid Plexus Carcinoma? Symptoms, Causes, & Treatment

Choroid plexus carcinoma is a rare brain tumor that develops in the choroid plexus, the tissue that produces cerebrospinal fluid in your brain. This fluid acts like a protective cushion around your brain and spinal cord, flowing through special chambers called ventricles.

While the name might sound intimidating, understanding this condition can help you feel more prepared and informed. These tumors are extremely uncommon, affecting fewer than 1 in a million people, and they occur most often in young children under age 5.

What is Choroid Plexus Carcinoma?

Choroid plexus carcinoma is a malignant tumor that grows from the cells of the choroid plexus. Think of the choroid plexus as tiny, specialized factories inside your brain that create cerebrospinal fluid.

This tumor belongs to a group called choroid plexus tumors, which can be either benign (non-cancerous) or malignant (cancerous). Carcinomas are the malignant type, meaning they can grow more aggressively and potentially spread to other parts of the brain or spinal cord.

The tumor disrupts normal fluid production and flow, which can lead to a buildup of cerebrospinal fluid in the brain. This condition, called hydrocephalus, creates increased pressure inside the skull and causes many of the symptoms people experience.

What are the Symptoms of Choroid Plexus Carcinoma?

The symptoms of choroid plexus carcinoma develop because the tumor blocks normal fluid drainage in the brain, creating pressure. Since these tumors most commonly affect infants and young children, the signs can be subtle at first.

The most common symptoms you might notice include:

• Enlarging head size in infants (macrocephaly)
• Persistent vomiting, especially in the morning
• Severe headaches that worsen over time
• Unusual irritability or changes in behavior
• Difficulty with balance or walking
• Vision problems or changes in eye movement
• Seizures that develop suddenly
• Excessive sleepiness or lethargy

In infants, you might also notice the soft spots on their head (fontanelles) bulging outward or becoming tense. Some babies may have trouble feeding or seem unusually fussy without an obvious reason.

Less common but serious symptoms can include weakness on one side of the body, speech difficulties, or changes in consciousness. These symptoms typically develop gradually over weeks to months as the tumor grows and pressure increases.

What Causes Choroid Plexus Carcinoma?

The exact cause of choroid plexus carcinoma remains largely unknown, which can feel frustrating when you're looking for answers. Like many rare cancers, it appears to develop from random changes in the DNA of choroid plexus cells.

However, researchers have identified some genetic factors that may increase risk. The most significant connection involves Li-Fraumeni syndrome, a rare inherited condition caused by mutations in the TP53 gene. Families with this syndrome have a higher chance of developing various cancers, including choroid plexus carcinomas.

Some studies suggest that certain viral infections during pregnancy might play a role, but this connection isn't definitively proven. Environmental factors haven't been clearly linked to these tumors, and they don't appear to be caused by anything parents did or didn't do during pregnancy.

The important thing to understand is that these tumors develop spontaneously in most cases. They're not caused by lifestyle choices, diet, or environmental exposures that could have been prevented.

When to See a Doctor for Choroid Plexus Carcinoma?

You should seek medical attention promptly if you notice persistent symptoms that suggest increased brain pressure, especially in young children. Trust your instincts as a parent or caregiver.

Contact your doctor immediately if you observe severe or worsening headaches, repeated vomiting, changes in vision, or new seizures. In infants, rapid head growth, bulging soft spots, or significant changes in feeding or behavior warrant urgent evaluation.

Don't wait if symptoms seem to be getting worse over days or weeks. While many of these symptoms can have less serious causes, brain tumors require prompt diagnosis and treatment for the best outcomes.

If your child has been diagnosed with Li-Fraumeni syndrome or has a family history of this condition, discuss regular screening with your healthcare team. Early detection can make a significant difference in treatment success.

What are the Risk Factors for Choroid Plexus Carcinoma?

The risk factors for choroid plexus carcinoma are quite limited, which reflects how rare and unpredictable these tumors are. Understanding these factors can help put your situation in perspective.

The primary risk factors include:

• Young age, particularly being under 5 years old
• Having Li-Fraumeni syndrome or TP53 gene mutations
• Family history of Li-Fraumeni syndrome
• Previous radiation exposure to the head (extremely rare)

Age is the most significant factor, with about 70% of these tumors occurring in children under age 2. The risk decreases dramatically after age 5, and these tumors are exceptionally rare in adults.

Genetic factors, while important when present, only account for a small percentage of cases. Most children who develop choroid plexus carcinoma have no known risk factors, which means these tumors typically occur randomly.

What are the Possible Complications of Choroid Plexus Carcinoma?

Complications from choroid plexus carcinoma primarily arise from increased pressure in the brain and the tumor's location near vital structures. Understanding these possibilities can help you prepare for what lies ahead.

The most immediate complications include:

• Hydrocephalus requiring surgical drainage
• Vision problems or blindness from pressure on the optic nerves
• Developmental delays in young children
• Seizure disorders that may persist after treatment
• Weakness or paralysis from pressure on motor areas
• Hearing loss from pressure on auditory pathways

Long-term complications can involve cognitive effects, especially in young children whose brains are still developing. Some children may experience learning difficulties, memory problems, or delays in reaching developmental milestones.

Treatment-related complications are also possible, including effects from surgery, chemotherapy, or radiation therapy. However, your medical team will work carefully to minimize these risks while effectively treating the tumor.

How is Choroid Plexus Carcinoma Diagnosed?

Diagnosing choroid plexus carcinoma involves several steps, starting with a thorough medical history and physical examination. Your doctor will ask about symptoms and may perform neurological tests to check reflexes, coordination, and brain function.

The most important diagnostic tool is magnetic resonance imaging (MRI) of the brain. This detailed scan can show the tumor's size, location, and relationship to surrounding brain structures. The MRI also helps identify hydrocephalus and plan treatment approaches.

A computed tomography (CT) scan might be used initially, especially in emergency situations, but MRI provides more detailed information. Your doctor may also order an MRI of the spine to check if the tumor has spread.

The definitive diagnosis requires a tissue sample, usually obtained during surgery to remove the tumor. A pathologist examines this tissue under a microscope to confirm the diagnosis and determine the tumor's specific characteristics.

Additional tests may include genetic testing to look for Li-Fraumeni syndrome, especially if there's a family history of cancer. Cerebrospinal fluid analysis might also be performed to check for tumor cells.

What is the Treatment for Choroid Plexus Carcinoma?

Treatment for choroid plexus carcinoma typically involves a team approach, combining surgery, chemotherapy, and sometimes radiation therapy. The specific plan depends on your child's age, the tumor's size and location, and whether it has spread.

Surgery is usually the first step, aiming to remove as much of the tumor as possible. Complete removal offers the best chance for cure, though this isn't always possible due to the tumor's location near vital brain structures.

Chemotherapy follows surgery in most cases, using medications that target cancer cells throughout the body. The specific drugs and duration depend on factors like your child's age and how much tumor was removed during surgery.

Radiation therapy might be recommended for older children, typically those over 3 years old, especially if the tumor couldn't be completely removed. However, radiation is usually avoided in very young children due to potential effects on the developing brain.

If hydrocephalus is present, your child may need a shunt, a small device that drains excess cerebrospinal fluid from the brain to another part of the body. This procedure can provide immediate relief from symptoms caused by increased brain pressure.

How to Manage Home Care During Treatment?

Managing care at home during treatment requires patience, organization, and close communication with your medical team. Creating a supportive environment can help your child cope with the challenges of treatment.

Focus on maintaining routines as much as possible while being flexible when treatment side effects interfere. Keep track of symptoms, medications, and any changes you notice, as this information helps your healthcare team adjust treatment as needed.

Nutrition becomes especially important during treatment. Work with a dietitian to ensure your child gets adequate calories and nutrients, even when appetite is poor. Small, frequent meals often work better than large ones.

Watch for signs of infection, such as fever, unusual fatigue, or changes in behavior, since chemotherapy can weaken the immune system. Contact your medical team promptly if you notice concerning symptoms.

Don't forget to care for yourself and other family members during this challenging time. Accept help from friends and family, and consider connecting with support groups or counseling services.

How Should You Prepare for Your Doctor Appointment?

Preparing for medical appointments can help you make the most of your time with the healthcare team and ensure important questions get answered. Start by writing down all symptoms you've noticed, including when they started and how they've changed.

Bring a list of all medications, supplements, and treatments your child is currently receiving. Include doses and timing, as this information helps doctors avoid potentially harmful interactions.

Prepare your questions in advance, focusing on the most important concerns first. Consider asking about treatment options, expected outcomes, potential side effects, and how to manage symptoms at home.

Bring a trusted family member or friend to appointments when possible. They can help remember information discussed and provide emotional support during difficult conversations.

Don't hesitate to ask for written information or resources about your child's condition. Many families find it helpful to record important parts of the conversation (with permission) to review later.

What's the Key Takeaway About Choroid Plexus Carcinoma?

Choroid plexus carcinoma is a rare but serious brain tumor that primarily affects young children. While the diagnosis can feel overwhelming, advances in treatment have significantly improved outcomes for many children with this condition.

Early recognition of symptoms and prompt medical attention are crucial for the best possible outcome. The combination of surgery, chemotherapy, and supportive care offers hope for many families facing this diagnosis.

Remember that every child's situation is unique, and your medical team will work with you to develop the most appropriate treatment plan. Don't hesitate to ask questions, seek second opinions, or request additional support when you need it.

While the journey ahead may be challenging, you're not facing it alone. Comprehensive pediatric cancer centers have specialized teams experienced in treating these rare tumors and supporting families through the entire process.