Management of Choroid Plexus Papillomas

Introduction: Choroid plexus papillomas are rare neuroepithelial tumors found primarily in children. It represents less than 1% of all central nervous system tumors. Materials and methods: A retrospective study including 14 patients with choroid plexus papilloma tumors were performed at the Neurosurgery Department in Ait IDDIR Health Hospital Establishment between January 2010 and December 2017. In each case, diagnosis was made clinically and confirmed radiologically and histo-pathologically. All patients were operated. Results and discussion: The mean age was 26 years (ranged 3 months –48 years) .In our department, we grouped together 14 cases of choroid plexus papilloma tumors. For mortality we had one case who died during surgery, survival rate for 04 years is 100% .We had not recurrence during the study period.All patients had intracranial hypertension (HIC) without neurological deficit and benefited from brain CT, MRI and an Angiography. The location of the tumor was: Lateral ventricle, Fourth ventricle, Third ventricle. All patients underwent surgical excision with or without ventriculo-peritoneal shunt. Conclusion: Choroid plexus papillomas are rare neuroepithelial tumors, typically considered benign lesions, derived from the choroid plexus and appear like cauliflower.

Not So Benign: A Rare Atypical Ectopic Choroid Plexus Papilloma

Choroid Plexus Papillomas (CPPs) are rare neoplasms (0.4-0.6 % of all brain tumors) arising from cuboidal epithelial cells of the choroid plexus. Atypical choroid plexus papillomas are even more rare and characterized by aggressive features of increased mitotic activity and frequent metastases even at diagnosis. Atypical choroid plexus papillomas accounted for 9% of choroid plexus tumors in the Surveillance Epidemiology and End Results (SEER) Database from 1978 to 2009. We describe a 56 year-old woman with a rare atypical choroid plexus papilloma ectopically located in the cerebellopontine angle and mistaken for a vestibular schwannoma or glossopharyngeal schwannoma. She demonstrated leptomeningeal seeding involving multiple cranial nerves and spinal cord. Besides papilledema she developed several neuro-ophthalmic features slowly over time from involvement of cranial nerves and subsequent intraparenchymal spread and radiation necrosis in the brainstem. Besides being rare, the cerebellopontine angle location of this tumor is also extremely uncommon making this a very unique case.

CHOROID PLEXUS TUMORS IN CHILDREN: ANALYSIS OF CLINICAL DATA

Choroid plexus tumors (CPT) are rare neoplasms accounting for 2–5% of all brain tumours in children, and are most commonly under 2 years of age. Most of these tumors present with symptoms of intracranial hypertension. Survival directly depends on the histological variant of the CPT. Objective of the study: to analyze the current and outcome characteristics of patients with CPT depending on the morphological variant. This study is a multicenter, retrospective, open, uncontrolled, non-comparative, non-randomized, longitudinal study. Materials and methods of research: 152 children with CPT according to the WHO classification of CNS tumors (2007, 2016), aged 0 to 18 years, who received treatment and observed from 2009 to 2019 were included in this study. Results: 83 (54,6%) of 152 children with CPT had choroid plexus papillomas (CPPs), 37 (24,3%) – atypical choroid plexus papillomas (APPs), 32 (21,1%) – choroid plexus carcinomas (CPCs). The median age for CPP was 21 months, for APP – 6 months, for CPC – 30 months. CPTs occurred at the age of less than 24 months in 53,3% of cases. In 70,4% of cases CPT were localized in the lateral ventricles. In most children disease manifested by intracranial hypertension, and this symptomatology in children with CPC was statistically significantly more frequent than in children with CPP (p=0,0042). In 28,9% of patients with CPP, 24,3% with APP and 9,4% with CPC the disease was asymptomatic, and all these patients were diagnosed during routine preventive examination. Five-year event-free survival (EFS) and overall survival (OS) for CPP, APP and CPC were 96%±2% and 99%±1%, 81%±7% and 97%±3%, 44%±10% and 66%±10%, respectively (p<0,0001). Conclusion: for the first time in the national literature the results of a retrospective analysis of clinical characteristics and survival of children suffering from a rare group of diseases such as CPT are collected and presented.

The genetic landscape of choroid plexus tumors in children and adults

Background Choroid plexus tumors (CPTs) are intraventricular brain tumors predominantly arising in children but also affecting adults. In most cases, driver mutations have not been identified, although there are reports of frequent chromosome-wide copy-number alterations and TP53 mutations, especially in choroid plexus carcinomas (CPCs). Methods DNA methylation profiling and RNA-sequencing was performed in a series of 47 CPTs. Samples comprised 35 choroid plexus papillomas (CPPs), 6 atypical choroid plexus papillomas (aCPPs) and 6 CPCs plus three recurrences thereof. Targeted TP53 and TERT promotor sequencing was performed in all samples. Whole exome sequencing (WES) and linked-read whole genome sequencing (WGS) was performed in 25 and 4 samples, respectively. Results Tumors comprised the molecular subgroups “pediatric A” (N=11), “pediatric B” (N=12) and “adult” (N=27). Copy-number alterations mainly represented whole-chromosomal alterations with subgroup-specific enrichments (gains of Chr1, 2 and 21q in “pediatric B” and gains of Chr5 and 9 and loss of Chr21q in “adult”). RNA sequencing yielded a novel CCDC47-PRKCA fusion transcript in one adult choroid plexus papilloma patient with aggressive clinical course; an underlying Chr17 inversion was demonstrated by linked-read WGS. WES and targeted sequencing showed TP53 mutations in 7/47 CPTs (15%), five of which were children. On the contrary, TERT promoter mutations were encountered in 7/28 adult patients (25%) and associated with shorter progression-free survival (log-rank test, p=0.015). Conclusion Pediatric CPTs lack recurrent driver alterations except for TP53, whereas CPTs in adults show TERT promoter mutations or a novel CCDC47-PRKCA gene fusion, being associated with a more unfavorable clinical course.

Torticollis as a Rare Presentation of Cerebellopontine Angle Choroid Plexus Papilloma in Children

Background and Importance: The rare intracranial neoplasms are Choroid Plexus Papillomas (CPPs), especially in the cerebellopontine angle. The main location of choroid plexus papillomas in adults and children are 4th ventricle and lateral ventricles, respectively. Case Presentation: We report on a little girl with a cerebellopontine angle CPP who presented with symptoms of torticollis. Assessment of Magnetic Resonance Imaging showed a mass in the right cerebellopontine angle, next to the brain stem. The tumor was completely resected using the right retrosigmoid approach method. A pathological examination determine a typical CPP that this being should be considered an extremely rare cause of a lesion in the posterior fossa. Conclusion: CPP is usually presented in the atrium of the lateral ventricle in children; however, we reported a rare case in the cerebellopontine angle.

Correction to: c-MYC overexpression induces choroid plexus papillomas through a T-cell mediated inflammatory mechanism

In the original version of this article [1], there was 1 error in the affiliation of the European Institute of Oncology (affiliation 3). In this correction article the updated affiliation is shown for clarification.

Choroid plexus papillomas are induced by c-Myc overexpression in the choroid plexus via a T-cell inflammatory mechanism

Choroid plexus tumours (CPT) account for up to 20% of brain tumours in children under 2 years of age. Histologically CPTs are classified into three categories - Choroid Plexus Papilloma (CPP), Atypical Choroid Plexus Papilloma (ACPP) and Choroid Plexus Carcinoma (CPC). Recent literature demonstrates that CPP and ACPP are molecularly distinct from CPC. Initial management for CPT include surgery followed by adjuvant therapy in selected patients. Currently there are no disease-specific chemotherapeutic agents available, possibly because of their rarity and paucity of faithful pre-clinical experimental models. In this study we show that c-Myc overexpression in the choroid plexus epithelium induces T-cell inflammation-dependent choroid plexus papillomas in a mouse model. We demonstrate that c-MYC is expressed in a substantial proportion of human choroid plexus tumours and that this subgroup of tumours is characterised by an inflammatory transcriptome and significant inflammatory infiltrates. We observed that triple transgenic compound mutant mouse model with c-Myc overexpression in an immune-suppressed background led to a decreased incidence of CPP and reduced tumour bulk. A reduced tumour size was also observed when c-Myc overexpressing mice were treated with anti-CD3 antibodies. Our data raise the possibility that benign choroid plexus tumours expressing c-MYC could be amenable to medical therapy with anti-inflammatory drugs.