Introduction
Choroid plexus carcinoma is a rare, aggressive brain tumor that mostly arises in the ventricular system of children but can occur at any age. It’s part of a spectrum of choroid plexus neoplasms and has a significant impact on neurological function, often causing increased intracranial pressure, headaches, and other distressing symptoms. While only about 0.3 to 0.6 percent of all brain tumors are choroid plexus carcinomas, their rapid growth and location can dramatically affect quality of life. In this article, we’ll dive into choroid plexus carcinoma symptoms, causes, treatment options, and the outlook you might expect.
Definition and Classification
Choroid plexus carcinoma (CPC) is a malignant tumor originating from the choroid plexus epithelium—the tissue responsible for cerebrospinal fluid (CSF) production in the brain’s ventricles. It’s classified by the World Health Organization (WHO) as a grade III neoplasm due to its aggressive behavior and tendency to invade surrounding structures. Within the choroid plexus tumor spectrum, there are:
- Choroid plexus papilloma (CPP, WHO grade I): benign, slow-growing
- Choroid plexus atypical papilloma (WHO grade II): intermediate features
- Choroid plexus carcinoma (CPC, WHO grade III): malignant, high mitotic index
CPC most often affects the lateral ventricles in children, while in adults, the fourth ventricle is more commonly involved. Subtypes based on histology or molecular markers are still being researched, but factors like TP53 mutations may indicate prognosis.
Causes and Risk Factors
Like many rare cancers, the exact cause of choroid plexus carcinoma isn’t fully understood. However, several elements have been implicated in its development. Genetic predispositions play a central role—Li-Fraumeni syndrome, characterized by germline TP53 mutations, is a well-known risk factor. Patients with Li-Fraumeni may have a 20–30% lifetime risk of CPC. Also, somatic mutations in genes that regulate cell cycle, DNA repair, or apoptotic pathways can contribute. Fun fact: I once read about a family where three siblings developed different choroid plexus tumors, hinting at an inherited vulnerability.
Environmental or lifestyle factors are less clearly linked. There’s no strong evidence that diet, workplace exposures, or smoking directly cause CPC, though ionizing radiation to the head during childhood might slightly increase risk. Non-modifiable factors include:
- Age: 70% of cases occur in children under 5 years
- Genetic syndromes: Li-Fraumeni, maybe others under investigation
- Family history: although extremely rare, familial clusters exist
Some researchers also explore prior infections or chronic inflammation in the CNS as possible contributors—but data are limited. Overall, while genetic drivers are paramount, environmental triggers remain speculative. It’s a classic puzzle: we know bits, but a clear cause-and-effect story hasn’t emerged. This uncertainty can be stressful for families searching “what causes choroid plexus carcinoma”—just be aware that current evidence focuses heavily on inherited DNA changes rather than lifestyle alone.
Pathophysiology (Mechanisms of Disease)
To understand how choroid plexus carcinoma develops, picture the choroid plexus cells lining ventricles—a crucial barrier that filters blood to produce CSF. Under normal conditions, these epithelial cells maintain homeostasis for brain fluid dynamics. In CPC, DNA damage—often from TP53 mutations—leads to uncontrolled cell division and loss of normal apoptosis. Abnormal proliferation of these epithelial cells forms a mass that can bleed, necrose, and infiltrate adjacent brain tissue.
Over time, the tumor disrupts CSF flow, causing hydrocephalus and elevated intracranial pressure (ICP). Mechanical compression of nearby structures can affect the thalamus, hypothalamus, or cerebellum based on tumor location. In advanced cases, tumor cells may spread via CSF pathways (drop metastases) to the spinal cord or other ventricular surfaces. In fact, around 10–30% of patients show leptomeningeal dissemination when imaged with spinal MRI.
At a molecular level, aberrant activation of growth factor pathways—like the PDGF or EGFR signaling cascades—drives angiogenesis and further tumor growth. Microenvironment changes, such as immune cell infiltration and cytokine release, may support neoplastic expansion or create resistance to therapies. It's a multi-step process: genetic hit, loss of cell cycle control, angiogenesis, invasion, and sometimes spread within the CNS. And yes, it’s as complicated in real life as it sounds in papers—no one simplifies it enough!
Symptoms and Clinical Presentation
Symptoms of choroid plexus carcinoma vary with patient age, tumor size, and location. Often, parents notice subtle changes in their child’s behavior or motor skills before major signs appear. Common early complaints include:
- Persistent headaches—especially in the morning, with nausea or vomiting
- Irritability or lethargy in infants (non-specific signs)
- Bulging of the fontanelle in babies under one year
- Visual disturbances like papilledema or blurred vision
As the tumor grows, hydrocephalus may develop, leading to:
- Increased intracranial pressure: nausea, vomiting, downward gaze “sunset sign”
- Cognitive decline: trouble with attention, school performance dips
- Motor issues: balance problems, unsteady gait, weakness on one side
Rarely, lateral ventricle tumors can cause seizures or focal deficits, whereas fourth ventricle lesions might lead to ataxia and cranial nerve palsies. Leptomeningeal spread can trigger neck stiffness or radicular pain in the back. I recall reading a case of a toddler who suddenly refused to walk properly—turns out a small CPC was pressing on cerebellar pathways.
Warning signs requiring urgent care include:") rapid worsening headache, sudden vomiting, loss of consciousness, or seizures. If you ever search “choroid plexus carcinoma symptoms,” remember that no two cases are identical: variability is the norm, not the exception. Please don’t use this list as self-diagnosis—see a specialist for formal evaluation.
Diagnosis and Medical Evaluation
Diagnosing choroid plexus carcinoma involves neuroimaging, histology, and CSF analysis. Usually, patients present to a pediatric neurologist or neurosurgeon after initial CT or MRI suggests a richly vascular intraventricular mass. MRI with contrast is the gold standard, revealing a heterogeneously enhancing lesion, often with cystic areas or hemorrhage. Sometimes, advanced techniques like MR spectroscopy help differentiate CPC from papillomas or ependymomas.
Once imaging raises suspicion, a neurosurgical biopsy or resection is needed. Pathology confirms carcinoma: high cellularity, mitotic figures, and necrosis support a WHO grade III designation. Immunohistochemical stains—like cytokeratin, transthyretin, and Ki-67 proliferation index—assist in differentiating from other intraventricular tumors.
CSF cytology is considered if leptomeningeal spread is suspected; however, false negatives happen since tumor cells may not always shed into fluid. Additional tests can include:
- Genetic profiling: TP53 mutation analysis, next-gen sequencing panels
- Complete blood count and metabolic panel: largely to prep for surgery
- Ophthalmology exam: to assess papilledema severity
Differential diagnosis often includes choroid plexus papilloma, atypical papilloma, ependymoma, metastases, or meningiomas in adults. Radiologists, neurologists, and neuropathologists collaborate to ensure accurate classification. In clinical practice, this pathway from imaging to histology can take a few days to weeks, depending on urgency and resources.
Which Doctor Should You See for Choroid Plexus Carcinoma?
If you suspect choroid plexus carcinoma—or your imaging report mentions an intraventricular mass—start with a pediatric or adult neurologist (depending on age). They can order MRI scans, initial blood work, and refer you to a neurosurgeon for consideration of biopsy or resection. A dedicated neuro-oncologist often coordinates long-term treatment, including chemotherapy or radiation.
Telemedicine has become a helpful tool: online consultations can guide you through interpreting imaging reports, setting up appointments with tertiary care centers, or getting second opinions from specialists across the country. But remember, virtual visits are great for clarifying results and initial guidance—they dont replace hands-on physical exams or urgent surgical evaluation if hydrocephalus is severe.
Emergency teams and ICU specialists may become involved if there’s acute hydrocephalus or signs of brain herniation. In summary, see a neurologist/neuro-oncologist first, consult a neurosurgeon for surgery, and leverage telehealth for second opinions or ongoing follow-up care.
Treatment Options and Management
Managing choroid plexus carcinoma involves a combination of surgery, chemotherapy, and sometimes radiation. The cornerstone is maximal safe surgical resection—complete tumor removal can significantly improve outcomes. But because CPCs are highly vascular, surgeons often plan for preoperative embolization to reduce bleeding.
Post-operative chemotherapy is usually first-line, especially in young children where radiotherapy risks long-term neurocognitive deficits. Regimens often include platinum-based drugs (cisplatin or carboplatin) plus etoposide, sometimes supplemented by high-dose methotrexate. If complete resection isn’t feasible, radiation therapy—fractionated or proton beam—may be added.
Advanced cases or recurrences might benefit from targeted agents in clinical trials, like VEGF inhibitors or PARP inhibitors for tumors with DNA repair defects. Supportive measures include:
- Shunt placement or endoscopic third ventriculostomy for hydrocephalus
- Rehabilitation: physical, occupational, speech therapy
- Symptom control: antiemetics, anticonvulsants if seizures occur
Treatment plans require a multidisciplinary tumor board: neurosurgeons, neuro-oncologists, radiation oncologists, and rehab specialists all collaborate to optimize outcomes while minimizing side effects.
Prognosis and Possible Complications
The outlook for choroid plexus carcinoma varies. Children who undergo gross total resection and receive adjuvant chemotherapy have five-year survival rates around 50–70%. Incomplete resection, metastatic spread at diagnosis, or TP53 mutations often predict poorer outcomes. Adults have similar challenges, though data is scarcer due to lower incidence.
Potential complications include:
- Hydrocephalus—if untreated, leads to severe neurological decline
- Seizures—might persist even after tumor removal
- Endocrine disturbances—if hypothalamic-pituitary regions are involved or irradiated
- Neurocognitive deficits—especially if radiotherapy is used in young patients
Long-term follow-up is crucial. Late effects might appear years after treatment: secondary malignancies, cognitive or growth issues, and psychosocial challenges. Still, many survivors lead fulfilling lives with appropriate supportive care and rehabilitation.
Prevention and Risk Reduction
Because choroid plexus carcinoma is largely driven by genetic mutations, primary prevention is limited. However, for families with known Li-Fraumeni syndrome or other hereditary cancer syndromes, genetic counseling can guide surveillance strategies. Periodic MRI screenings in high-risk infants might catch tumors early when they're smaller and more resectable.
Lifestyle modifications—like avoiding unnecessary radiation exposure in infancy—are general good practice but may have minimal impact on CPC risk. Early detection, though, makes a big difference. If a young child shows persistent headaches or developmental delays, prompt neurological evaluation can pick up evidence of hydrocephalus or intraventricular mass sooner.
In summary, reducing risk centers on:
- Genetic counseling for families with TP53 mutations
- Avoiding diagnostic radiation in infants unless absolutely necessary
- Awareness of unusual neurological signs in young children
While true prevention isn’t currently possible, vigilance and early imaging for at-risk kids help improve outcomes and reduce treatment-related complications.
Myths and Realities
There’s a lot of confusion online about choroid plexus carcinoma—some myths out there deserve debunking:
- Myth: “It’s always fatal.” Reality: While aggressive, many patients can achieve long-term survival, especially after gross total resection and chemo.
- Myth: “Only children get it.” Reality: Although more common in kids under 5, adults can develop CPC, often in the fourth ventricle.
- Myth: “Diet cures CPC.” Reality: No specific foods or supplements are proven to treat or prevent CPC; proper medical therapies are essential.
- Myth: “Radiation must be avoided at all costs.” Reality: Radiation can be lifesaving for residual or metastatic disease—its risks need balancing against benefits.
- Myth: “It spreads outside the brain.” Reality: CPC rarely metastasizes beyond the CNS; most spread is through CSF pathways, not to lungs or liver.
By addressing these misconceptions, patients and families can make informed choices, stick to evidence-based protocols, and maintain realistic expectations throughout treatment.
Conclusion
Choroid plexus carcinoma is a challenging but not hopeless diagnosis. Early recognition of symptoms—headache, vomiting, changes in behavior—combined with prompt MRI imaging can lead to timely surgery and adjuvant therapy. While genetics like TP53 mutations influence risk and prognosis, multidisciplinary care teams tailor treatments to individual needs. Survivorship brings its own hurdles—rehabilitation, cognitive support, and psychosocial counseling—but many patients go on to lead active, fulfilling lives. Always seek qualified medical advice; timely evaluation by a neurologist, neurosurgeon, and neuro-oncologist remains the best path forward.
Frequently Asked Questions (FAQ)
- Q1: What is choroid plexus carcinoma?
A1: It’s a rare malignant tumor of the CSF-producing tissue in the brain’s ventricles, classified as WHO grade III.
- Q2: What are common symptoms?
A2: Persistent headache, nausea, vomiting, vision changes, and irritability in young children are typical.
- Q3: How is CPC diagnosed?
A3: Diagnosis involves MRI with contrast, surgical biopsy, histopathology, and immunohistochemical staining.
- Q4: Who typically gets this tumor?
A4: Most cases occur in children under 5, but adults can also develop CPC, often in the fourth ventricle.
- Q5: What causes it?
A5: Genetic mutations—especially TP53 in Li-Fraumeni syndrome—are primary drivers; environmental causes are unclear.
- Q6: Which doctor treats CPC?
A6: A neurologist/neuro-oncologist diagnoses it, neurosurgeons perform the surgery, and radiation oncologists may help post-op.
- Q7: What’s the main treatment?
A7: Maximal safe surgical resection, followed by chemotherapy; radiation is used selectively in older patients or residual disease.
- Q8: Can CPC spread?
A8: It rarely metastasizes outside the CNS but can disseminate through CSF pathways, affecting spinal cord surfaces.
- Q9: What’s the prognosis?
A9: Five-year survival is around 50–70% post-gross total resection; incomplete removal or metastasis worsen outlook.
- Q10: Are there preventive measures?
A10: No true prevention; genetic counseling and early MRI for high-risk kids help detect tumors sooner.
- Q11: Is CPC hereditary?
A11: Often linked to inherited TP53 mutations in Li-Fraumeni syndrome but can also arise sporadically.
- Q12: How urgent is treatment?
A12: Hydrocephalus or rapid neurological decline demands emergency neurosurgical care—don’t delay seeking help.
- Q13: What about quality of life?
A13: Rehabilitation, cognitive therapy, and ongoing neuropsych support can improve daily functioning long-term.
- Q14: Can online consultations help?
A14: Yes—telemedicine offers second opinions, clarifies imaging reports, and guides care coordination, but not emergency surgery.
- Q15: Where can I find support?
A15: Ask your treatment center about neuro-oncology support groups, genetic counseling services, and family resources.
