Dataset Information

Atypical Choroid Plexus Papilloma of the Fourth Ventricle in an Adult: A Case Report.

ABSTRACT: Atypical choroid plexus papilloma (aCPP) is very rarely seen in adults. Here, we present the case of a 47-year-old male with several months of headache, nausea, dizziness, and imbalance who was found to have an enhancing mass of the fourth ventricle with imaging findings suggestive of likely ependymoma. The patient underwent suboccipital craniotomy with C1 laminectomy and telovelar approach for gross-total resection of the lesion, with final pathology demonstrating WHO grade II aCPP. Subsequent genomic analysis showed a biologically relevant TERT mutation, as well as several variants of unknown significance. We conclude that aCPP is a rare, benign entity diagnosed by tissue sample that is potentially curative with surgical resection and may harbor targetable genetic mutations.

SUBMITTER: Goel K

PROVIDER: S-EPMC9217547 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Atypical Choroid Plexus Papilloma of the Fourth Ventricle in an Adult: A Case Report.

Goel Keshav K Birdi Uday U Menaker Simon S Bannykh Serguei I SI Patel Chirag C

Cureus 20220523 5

Atypical choroid plexus papilloma (aCPP) is very rarely seen in adults. Here, we present the case of a 47-year-old male with several months of headache, nausea, dizziness, and imbalance who was found to have an enhancing mass of the fourth ventricle with imaging findings suggestive of likely ependymoma. The patient underwent suboccipital craniotomy with C1 laminectomy and telovelar approach for gross-total resection of the lesion, with final pathology demonstrating WHO grade II aCPP. Subsequent ...[more]

PMID: 35755561

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Project description:Atypical choroid plexus papilloma (APP) represents a novel intermediate-grade subtype of choroid plexus tumor (CPT), the clinical outcome of which has not been described yet. We present the first analysis of a group of APP patients enrolled in the ongoing CPT-SIOP-2000 study of CPTs. A worldwide registration and a randomized trial for those patients who require chemotherapy started in 2000. For APP, maximal surgical resection was recommended. After surgery, patients who had undergone complete resection were observed, whereas patients with incompletely resected or metastasized APP were treated with six chemotherapy courses (etoposide and vincristine, combined with either carboplatin or cyclophosphamide). Risk-adapted radiotherapy was given only to patients older than 3 years of age. Of the 106 patients with a centrally confirmed CPT histology, 30 had APP, 42 CPP and 34 CPC. APP patients were significantly younger (median = 0.7 years) than patients with CPP or CPC (both medians = 2.3 years). Complete resection was achieved in 68 (64%) patients (79% in CPP, 63% in APP, and 47% in CPC). Metastases were present at diagnosis in 17% of APP patients, 5% of CPP patients, and 21% of CPC patients. All nine APP patients who received postoperative chemotherapy showed an early response after two cycles: two had complete remission, four had partial response, and three had stable disease. In the observation group of 15 patients, one event was seen, and all patients were alive. In the treatment group, one patient with a metastasized tumor and incompletely resected APP died. While APP was defined histologically, median percentages of both the Ki-67/MIB-1 proliferation marker and the p53 tumor suppressor protein increased across the three histological subtypes (from CPP to APP and then CPC), suggesting that the subtypes comprise an ordinal categorization of increasingly severe CPT tumors. This ordering was reiterated by clinical outcome in the 92 patients treated per the study protocol, with 5-year EFS rates of 92% in 39 CPP patients, 83% in 24 APP patients, and 28% in 29 CPC patients. A similar ordering was seen when all 106 patients were evaluated for EFS. APP responded favorably to chemotherapy. The intermediate position of APP between CPP and CPC was supported by the clinical data.

Project description:Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system that is usually confined to the cerebral ventricles. According to the World Health Organization, CPP corresponds to a grade I atypical CPP (a-CPP); however, it can become more aggressive and reach grade II, which can rarely undergo malignant transformation into a choroid plexus carcinoma (grade III). To the best of our knowledge, identification of these tumors mutations by next generation DNA sequencing (NGS) has not been yet reported. In the present study, NGS analysis of an a-CPP case was performed. Data were analyzed using Advaita Bioinformatics i-VariantGuide and Ion Reporter 5.6 programs. The results from NGS identified 12 novel missense mutations in the following genes: NOTCH1, ATM, STK36, MAGI1, DST, RECQL4, NUMA1, THBS1, MYH11, MALT1, SMARCA4 and CDH20. The PolyPhen score of six variants viz., DST, RECQL4, NUMA1, THBS1, MYHI1 and SMARCA4 were high, which suggested these variants represents pathogenic variants. Two novel insertions that caused frameshift were also found. Furthermore, two novel nonsense mutations and 14 novel intronic variants were identified in this tumor. The novel missense mutation detected in ATM gene was situated in c.5808A>T; p. (Leu1936Phe) in exon 39, and a known ATM mutation was in c.5948A>G; p. (Asn1983Ser). These novel mutations had not been reported in previous database. Subsequently, the quality statistics of these variants, including allele coverage, allele ratio, P-value, Phred quality score, sequencing coverage, PolyPhen score and alleles frequency was performed. For all variants, P-value was highly significant and the Phred quality score was high. In addition, the results from sequencing coverage demonstrated that 97.02% reads were on target and that 97.88% amplicons had at least 500 reads. These findings may serve at determining new strategies to distinguish the types of choroid plexus tumor, and at developing novel targeted therapies. Development of NGS technologies in the Kingdom of Saudi Arabia may be used in molecular pathology laboratories.

Dataset Information

Atypical Choroid Plexus Papilloma of the Fourth Ventricle in an Adult: A Case Report.

Publications

Atypical Choroid Plexus Papilloma of the Fourth Ventricle in an Adult: A Case Report.

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