Choroid Plexus Tumors
Choroid plexus tumors are rare tumors arising from the choroid plexus epithelium that produces cerebrospinal fluid (CSF) within the brain ventricles. They span a spectrum from benign papilloma (grade 1) to malignant carcinoma (grade 3) and occur particularly in infants.
Ultimo aggiornamento: 2026-06-06
Definition
The choroid plexus is the tissue within the brain ventricles that produces CSF and acts as a filter. Choroid plexus tumors are rare intraventricular tumors arising from this epithelium. They account for about 0.5-1% of all intracranial tumors but are markedly more common in childhood, especially in infants under 2 years.
Classification
The WHO classification defines three types. Choroid plexus papilloma (grade 1) is the most common, benign type; when fully removed its prognosis is excellent. Atypical choroid plexus papilloma (grade 2) is moderately aggressive with increased mitotic activity. Choroid plexus carcinoma (grade 3) is the malignant, rapidly growing type that invades brain tissue. A substantial proportion of carcinoma cases carry an inherited mutation in the TP53 gene (Li-Fraumeni syndrome).
Symptoms
Symptoms are largely related to hydrocephalus (CSF accumulation), arising both from overproduction of CSF by the tumor and from obstruction of ventricular outflow. In infants, rapid head growth (macrocephaly), a bulging fontanelle, vomiting, irritability and feeding difficulty are seen. Older children may present with headache, morning vomiting, papilledema, imbalance and seizures.
Diagnosis
Contrast-enhanced brain MRI is the gold standard, showing a lobulated, cauliflower-like, avidly enhancing intraventricular mass, often with hydrocephalus. Papilloma is well-defined and homogeneous, whereas carcinoma is irregular, heterogeneous and invades brain tissue. Spinal MRI is required to assess spread. Definitive diagnosis is made by pathology and immunohistochemistry (cytokeratin, transthyretin, S100 positive). TP53 germline testing is recommended in every child diagnosed with carcinoma.
Treatment
The mainstay of treatment is total surgical resection. In papilloma, complete removal is often curative and requires no further treatment. In atypical papilloma and carcinoma, particularly when the tumor cannot be completely removed, chemotherapy and, in selected cases, radiotherapy are added; carboplatin-based combination chemotherapy has become standard in carcinoma. Because of high vascularity these tumors carry a significant risk of serious intraoperative bleeding; since infants have a small blood volume, hemostasis is critical and surgery should be performed at experienced pediatric centers. In cases with a TP53 germline mutation (Li-Fraumeni), radiotherapy is avoided where possible because it markedly increases the risk of secondary cancers.
Prognosis
Prognosis depends on tumor type. In papilloma, 5-year survival after complete removal is very high with low recurrence risk. In atypical papilloma the prognosis is good but recurrence risk is higher. In carcinoma the prognosis is worse and depends on the extent of resection, age and TP53 status. Hydrocephalus may persist after surgery, and a proportion of patients require a permanent shunt. Outcomes are individual and none can be guaranteed; genetic counseling should be offered to families in carcinoma cases.
Riferimenti
- Greenberg MS. Greenberg's Handbook of Neurosurgery. 10th ed. Thieme; 2023:739-743.
- Winn HR, ed. Youmans Neurological Surgery. 6th ed. Saunders; 2011:2063-2065.
- Osborn AG, Hedlund GL, Salzman KL. Osborn's Brain: Imaging, Pathology, and Anatomy. 2nd ed. Elsevier; 2018:571-575.
- Louis DN, et al. The 2021 WHO Classification of Tumors of the Central Nervous System. Neuro Oncol. 2021.
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