Durability of an endoscopic management strategy for recurrent choroid plexus carcinoma with a comprehensive molecular characterization: illustrative case.
J Neurosurg Case Lessons
; 5(10)2023 Mar 06.
Article
em En
| MEDLINE
| ID: mdl-36880511
ABSTRACT
OBJECTIVE:
Choroid plexus carcinoma (CPC) is a rare, primarily intraventricular neoplasm. Extent of resection correlates with improved outcomes but is limited due to tumor vascularity and size. Evidence on optimal surgical management and molecular drivers of recurrence remains limited. Here the authors characterize a case of multiply recurrent CPC treated with sequential endoscopic removals over 10 years and highlight its genomic properties. OBSERVATIONS Five years after standard treatment, a 16-year-old female presented with a distant intraventricular recurrence of CPC. Whole exome sequencing revealed NF1, PER1, and SLC12A2 mutations, FGFR3 gain, and no TP53 alterations. Repeat sequencing on recurrences 4 and 5 years later showed persistent NF1 and FGFR3 alterations. Methylation profiling was consistent with plexus tumor, subclass pediatric B. Short-term magnetic resonance imaging detected four total isolated recurrences, all treated with complete endoscopic resections at 5, 6.5, 9, and 10 years after initial diagnosis. Mean hospital stay for all recurrences was 1 day with no complications. LESSONS The authors describe a patient with four isolated recurrences of CPC over a decade, each treated with complete endoscopic removal, and identify unique molecular alterations that persisted without TP53 alterations. These outcomes support frequent neuroimaging to facilitate endoscopic surgical removal following early detection of CPC recurrence.
3D = three-dimensional; CPC = choroid plexus carcinoma; CPT = choroid plexus tumor; GTR = gross-total resection; MDM2 = mouse double minute 2; MPRAGE = T1-magnetizationprepared rapid gradient-echo; MRI = magnetic resonance imaging; VUS = variant of undetermined significance; WES = whole exome sequencing; WHO = World Health Organization; choroid plexus carcinoma; choroid plexus tumor; endoscopic resection; pediatric neurosurgery; recurrent; whole exome sequencing
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Screening_studies
Idioma:
En
Revista:
J Neurosurg Case Lessons
Ano de publicação:
2023
Tipo de documento:
Article