Disease Evolution Monitored by Serial Cerebrospinal Fluid Liquid Biopsies in Two Cases of Recurrent Medulloblastoma.
Katrina O'HalloranAshley MargolTom Belle DavidsonDolores EstrineBenita TamraziJennifer A CotterJianling JiJaclyn A BiegelPublished in: International journal of molecular sciences (2024)
Medulloblastoma is the most common malignant brain tumor in childhood. Initial treatment generally includes surgery, irradiation, and chemotherapy. Approximately 20-30% of patients will experience a recurrence, which portends a very poor prognosis. The current standard of care for evaluation for relapse includes radiographic surveillance with magnetic resonance imaging at regular intervals. The presence of circulating tumor DNA in the cerebrospinal fluid has been demonstrated to be a predictor of a higher risk of progression in a research setting for patients with medulloblastoma treated on a prospective single institution clinical trial. We have previously published and clinically validated a liquid-biopsy-based genetic assay utilizing low-pass whole genome sequencing to detect copy number alterations in circulating tumor DNA. Here, we present two teenage patients with posterior fossa medulloblastoma with recurrent disease who have been monitored with serial liquid biopsies showing tumor evolution over time, demonstrating the clinical utility of these approaches.
Keyphrases
- circulating tumor
- copy number
- cerebrospinal fluid
- poor prognosis
- circulating tumor cells
- cell free
- magnetic resonance imaging
- mitochondrial dna
- clinical trial
- end stage renal disease
- genome wide
- ionic liquid
- long non coding rna
- newly diagnosed
- ultrasound guided
- ejection fraction
- minimally invasive
- healthcare
- chronic kidney disease
- palliative care
- free survival
- computed tomography
- high throughput
- peritoneal dialysis
- squamous cell carcinoma
- locally advanced
- phase ii
- radiation therapy
- young adults
- pain management
- contrast enhanced
- open label
- radiation induced
- single cell