Choroid plexus tumor

Introduction

Choroid plexus tumor is a rare brain neoplasm arising from the choroid plexus tissue deep inside the ventricles of the brain. Though it accounts for only a small fraction of intracranial tumors, its impact on health and daily life can be significant—especially in infants and young children, who are most often affected. Patients may experience headaches, nausea, or hydrocephalus. In this article, we’ll preview symptoms, causes, treatment options, and outlook for choroid plexus tumors, helping you get a sense of what matters if you or a loved one faces this diagnosis.

Definition and Classification

A choroid plexus tumor develops from the specialized cells lining the choroid plexus, which produces cerebrospinal fluid (CSF) within the brain’s ventricular system. Clinically, these tumors are grouped as:

• Choroid plexus papilloma (CPP): benign, WHO Grade I
• Atypical choroid plexus papilloma (aCPP): intermediate, WHO Grade II
• Choroid plexus carcinoma (CPC): malignant, WHO Grade III

CPPs behave less aggressively and often present with CSF overproduction, while CPCs invade local tissue and can metastasize. These tumors primarily affect the lateral ventricles in children and the fourth ventricle in adults, reflecting subtle differences in location and behavior by age group.

Causes and Risk Factors

As with many rare brain tumors, the exact cause of choroid plexus tumors isn’t fully understood. A few factors have emerged from clinical studies:

• Genetic predispositions: Mutations in the TP53 gene (Li-Fraumeni syndrome) significantly increase risk, especially for carcinomas. Some families carry inherited tumor-suppressor mutations that weaken DNA repair.
• Age: Infants under two years old are most commonly diagnosed with CPP or CPC, hinting at developmental vulnerabilities during early brain growth.
• Radiation exposure: Prior cranial irradiation, whether for childhood leukemia or other central nervous system (CNS) conditions, may play a modest role in malignant transformation, though this link is rare.
• Environmental factors: No strong evidence links chemicals or diet to choroid plexus tumor risk, but ongoing research explores prenatal toxins and maternal health.

Modifiable vs. non-modifiable risks:

• Non-modifiable: hereditary syndromes (e.g., Li-Fraumeni), age, and sex (slightly more common in males).
• Modifiable: limiting unnecessary radiation, careful monitoring if you have known genetic mutations.

In many patients, no clear risk factor emerges, underlining that chance and unknown biological triggers often play a role. Research continues to probe viral, epigenetic, or prenatal influences that might one day explain why these tumors pop up unexpectedly.

Pathophysiology (Mechanisms of Disease)

Under normal conditions, the choroid plexus—vascular, villous tissue in the brain’s ventricles—produces cerebrospinal fluid (CSF) that cushions and nourishes neural tissue. In choroid plexus tumors, genetic hits (like TP53 mutations) trigger uncontrolled cellular proliferation of plexus epithelial cells.

• Mutated DNA leads to loss of tumor-suppressor control, so cells keep dividing beyond usual checks.
• Excess epithelial cells enlarge the plexus, sometimes creating villous, papillary growths that seep fluid.
• Overproduction of CSF + obstruction of ventricular pathways causes hydrocephalus, raising intracranial pressure (ICP).
• In malignancies (CPC), cells invade adjacent brain parenchyma, disrupt normal barriers, and occasionally spread via CSF pathways (drop metastases).

Physiologically, elevated ICP hampers cerebral perfusion, leading to headaches, nausea, cognitive slowing, or seizures. In children, skull sutures may still be open, causing rapid head enlargement rather than the classic “throbbing headache.” Over time, untreated pressure leads to subtle motor or cognitive deficits as brain tissue endures persistent stress.

Symptoms and Clinical Presentation

Symptoms vary by tumor grade, size, and patient age. You might notice early signs of increased pressure or focal neurological deficits. Here’s how they typically unfold:

• Headache: Often worse in the morning, sometimes alleviated by vomiting—classic “pressure headache.”
• Nausea and vomiting: Linked to intracranial hypertension; can be cyclic in toddlers, who might refuse food.
• Hydrocephalus signs: Bulging fontanelles or rapid head growth in infants; in older kids/adults, papilledema (optic disc swelling) and blurred vision.
• Seizures: Focal or generalized, more common if tumor irritates cortical tissue near ventricles.
• Cognitive changes: Irritability, lethargy, personality shifts, difficulty concentrating—sometimes subtle and dismissed as “just stress.”
• Balance and coordination issues: Especially with fourth ventricular tumors, patients may stagger, develop ataxia, or vertigo.
• Endocrine disturbances: Rare, but hypothalamic-pituitary axis compression can cause growth delays in children.

Advanced or malignant tumors (CPC) add symptoms of local invasion: cranial nerve palsies, limb weakness, or even CSF dissemination causing “drop metastases” in spinal canal. Warning signs needing urgent care include sudden onset headache with vomiting, gaze palsy, or rapid behavioral changes—don’t shrug those off.

Diagnosis and Medical Evaluation

Suspecting a choroid plexus tumor starts with clinical observation—signs of increased ICP, focal deficits, or unexplained developmental regression in kids. Diagnostic steps typically include:

• Neuroimaging: MRI is the gold standard. On T1-weighted images, CPPs appear well-circumscribed and intensely enhancing; CPCs show irregular borders and peritumoral edema. CT scans highlight calcifications in papillomas.
• CSF analysis: In selected cases, sampling via lumbar puncture helps rule out metastatic disease or other causes of hydrocephalus—though LP is avoided if high ICP is suspected.
• Histopathology: Definitive diagnosis requires tissue, obtained through stereotactic biopsy or surgical resection. Pathologists look for papillary architecture, mitotic figures, and invasion patterns to grade the tumor.
• Genetic testing: Particularly for pediatric CPCs, TP53 mutation screening (Li-Fraumeni workup) guides family counseling and surveillance for secondary cancers.

Differential diagnoses include ependymoma, medulloblastoma, and intraventricular meningioma. A multidisciplinary team—neurologist, neurosurgeon, neuropathologist, and sometimes oncologist—works through imaging, labs, and histology to confirm the choroid plexus tumor subtype.

Which Doctor Should You See for Choroid Plexus Tumor?

If you suspect symptoms of a choroid plexus tumor, start with your primary care physician or pediatrician. They’ll evaluate initial signs—headache patterns, developmental delays, or vomiting—and may order an MRI. From there, the key specialists include:

• Neurosurgeon: for surgical biopsy and tumor resection.
• Neurologist: for symptom management, seizure control, and long-term monitoring.
• Neuro-oncologist: if chemotherapy or radiation is needed, especially in carcinoma cases.

Online consultations can be excellent for second opinions, result interpretation, or clarifying complex treatment plans when travel is tough. Telemedicine helps you ask follow-up questions and review scans remotely—but it’s no substitute for an in-person neurological exam or emergency surgery if ICP is dangerously high.

Treatment Options and Management

Treatment hinges on tumor grade and location:

• Surgical resection: First-line for both papillomas and carcinomas. Aiming for gross total resection relieves hydrocephalus and provides tissue for grading.
• CSF diversion: Ventriculoperitoneal shunt or endoscopic third ventriculostomy may be required pre- or post-op to manage hydrocephalus (yep, sometimes you need both tumor removal and a shunt).
• Radiation therapy: Often reserved for CPC or recurrent aCPP in older kids/adults to minimize long-term neurocognitive effects in very young children.
• Chemotherapy: Agents like etoposide, vincristine, or carboplatin can be used, especially if resection is incomplete or if TP53 mutations increase recurrence risk.
• Supportive care: Steroids to reduce edema, antiemetics, anticonvulsants—manage side effects and improve quality of life.

Each plan is tailored—first-line surgery, then adjuvant therapy depending on histology. Remember, aggressive tumors often need a multimodal approach, and side effects can include neurocognitive delays, endocrine issues, or secondary leukemias (rare).

Prognosis and Possible Complications

Prognosis varies by subtype and resection completeness:

• CPP (Grade I): Excellent outcomes if gross total resection achieved. Five-year survival exceeds 90%.
• aCPP (Grade II): Intermediate, with 70–80% five-year survival if completely removed; recurrence possible in 20–30%.
• CPC (Grade III): Prognosis guarded—five-year survival around 40–60%, depending on TP53 status and adjuvant therapy success.

Untreated or residual tumor leads to chronic hydrocephalus, neurological deficits, and elevated ICP. Complications include shunt malfunction, infection, radiation-induced leukoencephalopathy, or chemotherapy-related cytopenias. Early detection and complete resection remain key to better outcomes.

Prevention and Risk Reduction

Because choroid plexus tumors arise from developmental and genetic anomalies, true primary prevention is challenging. However, you can mitigate certain risks:

• Genetic counseling: If you carry TP53 or other tumor-suppressor gene mutations, regular MRI surveillance can catch tumors at an earlier, more treatable stage.
• Limit pediatric radiation: When possible, use MRI-based monitoring instead of prophylactic cranial irradiation for other cancers to reduce long-term secondary tumor risk.
• Prenatal care: Good maternal nutrition, avoidance of known teratogens, and maintenance of optimal health reduce general birth defect risks, even if they don’t eliminate choroid plexus tumor risk specifically.
• Early developmental screening: Pediatric well-checks that monitor head circumference and milestone attainment help spot hydrocephalus or cognitive delays sooner.

While you can’t entirely prevent a rare genetic tumor, prompt response to red flags—persistent vomiting, bulging soft spots, unexplained irritability—helps secure timely imaging and treatment. That’s your best “risk reduction” strategy in practice.

Myths and Realities

There’s plenty of misinformation swirling around rare brain tumors. Let’s bust a few myths about choroid plexus tumor:

• Myth: “Only adults get these tumors.” Reality: Actually, most choroid plexus tumors arise in infants and young children. Adult cases are much rarer.
• Myth: “Radiation causes choroid plexus tumors.” Reality: High-dose cranial radiation is a risk factor for secondary malignancies, but most cases have no prior radiation history.
• Myth: “You’ll definitely have seizures if you have this tumor.” Reality: Seizures occur in some patients, but headache, hydrocephalus, and vomiting are more common initial signs.
• Myth: “Surgery cures everything.” Reality: Papillomas often are cured by resection, but carcinomas usually require multimodal treatment and carry higher recurrence risk.
• Myth: “Herbal supplements can shrink the tumor.” Reality: No evidence supports alternative therapies as effective. Stick with evidence-based chemo, radiation, and surgery.

Understanding these realities helps families navigate choices without falling for hype or unproven “miracle cures.” Chat with specialists, review peer-reviewed studies, and think critically about every claim.

Conclusion

Choroid plexus tumors are uncommon but clinically significant brain neoplasms, especially in young children. Recognizing symptoms—persistent headache, hydrocephalus signs, or developmental delays—is the first step. Diagnosis relies on MRI and pathology, with classification into papillomas, atypical papillomas, or carcinomas guiding treatment. Surgery remains cornerstone therapy, often combined with chemotherapy or radiation in malignant cases. Prognosis varies widely by grade and resection success. While primary prevention is limited, genetic counseling, careful surveillance, and prompt response to warning signs reduce risks. Always partner with qualified neuro-oncology teams for personalized care, and don’t hesitate to seek a second opinion or telemedicine consult when you need clarity.

Frequently Asked Questions

• Q1: What is a choroid plexus tumor?
  A1: It’s a tumor that arises from the CSF-producing cells in the brain’s ventricles. Subtypes include papilloma, atypical papilloma, and carcinoma.
• Q2: Who is most at risk?
  A2: Infants and young children are at highest risk, particularly those with genetic conditions like Li-Fraumeni syndrome.
• Q3: What are the first symptoms?
  A3: Headache, nausea, vomiting, or irritability in babies (bulging fontanelle) often prompt evaluation.
• Q4: How is it diagnosed?
  A4: MRI scans identify lesion characteristics; definitive diagnosis by biopsy and histopathology.
• Q5: Can it be cured?
  A5: Benign papillomas are often cured with surgery. Carcinomas need additional therapy and have variable outcomes.
• Q6: What treatments are used?
  A6: Surgery, CSF shunting for hydrocephalus, radiation (in older children/adults), and chemo for carcinoma.
• Q7: What’s the prognosis?
  A7: Five-year survival >90% for papilloma, 40–60% for carcinoma, depending on complete resection and genetics.
• Q8: Are there long-term side effects?
  A8: Possible cognitive delays, endocrine issues, shunt complications, or secondary therapy-related effects.
• Q9: When to see a doctor urgently?
  A9: Sudden severe headache with vomiting, vision changes, or rapidly evolving neurological deficits.
• Q10: Can telemedicine help?
  A10: Yes—for second opinions, scan reviews, follow-up questions, though initial diagnosis often needs in-person imaging/exam.
• Q11: Is there anything I can do to prevent it?
  A11: No guaranteed prevention; genetic counseling and early surveillance in high-risk individuals help catch tumors early.
• Q12: What myths should I avoid?
  A12: Herbal cures, exaggerated radiation links, or “one-size-fits-all” surgery promises are misconceptions.
• Q13: How often should follow-up scans occur?
  A13: Typically every 3–6 months post-op for two years, then annually, tailored by tumor grade and stability.
• Q14: Can adults get these tumors?
  A14: Rarely, yes—adults more often have papillomas in the fourth ventricle than lateral ventricles.
• Q15: Does family history matter?
  A15: Positive family history of Li-Fraumeni or related syndromes raises risk; genetic testing and counseling recommended.