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Background Safe sampling of CNS tumor tissue for diagnostic purposes may be difficult if not impossible, especially in pediatric patients, and an unmet need exists to develop less invasive diagnostic tests. Methods We report our clinical experience with minimally invasive molecular diagnostics using a clinically validated assay for sequencing of cerebrospinal fluid (CSF) cell-free DNA (cfDNA). All CSF samples were collected as part of clinical care, and results reported to both clinicians and patients/families. Results We analyzed 64 CSF samples from 45 pediatric, adolescent and young adult (AYA) patients (pediatric=25; AYA=20) with primary and recurrent brain tumors across 12 histopathological subtypes including high-grade glioma (n=10), medulloblastoma (n=10), pineoblastoma (n=5), low grade glioma (n=4), diffuse leptomeningeal glioneuronal tumor (DLGNT) (n=4), retinoblastoma (n=4), ependymoma (n=3), and other (n=5). Somatic alterations were detected in 30/64 samples (46.9%) and in at least one sample per unique patient in 21/45 patients (46.6%). CSF cfDNA positivity was strongly associated with the presence of disseminated disease at the time of collection (84.6% of samples from patients with disseminated disease were positive). No association was seen between CSF cfDNA positivity and the timing of CSF collection during the patient’s disease course. Conclusions We identified three general categories where CSF cfDNA testing provided additional relevant diagnostic, prognostic, and/or therapeutic information, impacting clinical assessment and decision making: 1) diagnosis and/or identification of actionable alterations; 2) monitor response to therapy; and 3) tracking tumor evolution. Our findings support broader implementation of clinical CSF cfDNA testing in this population to improve care.

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SummaryBackgroundUnilateral invasion of the internal jugular vein (IJV) after subtotal thyroidectomy caused by local recurrence of papillary thyroid carcinoma is extremely rare. We report a case of papillary thyroid carcinoma which invades IJV with hypervascular tumor thrombus.Case ReportWe report a case of a 52-year-old woman with a history of previous thyroid operation who presented with a 2-month history of a painless, growing, hard, solitary mass on the left side of the neck. Clinical examination revealed also ipsilateral cervical lymphadenopathy. Radiological examination showed a necrotic and cystic mass arising from the operated area extending and invading the left jugular vein wall with hypervascular tumor thrombus. Cytological examination of the mass confirmed a papillary thyroid carcinoma (PTC) and enlarged metastatic lymph nodes. Therefore, total thyroidectomy with left neck dissection and segmental resection of the left internal jugular vein were performed, and the tumor thrombus was cleared successfully.ConclusionsInvasion of IJV with hypervascular tumor thrombosis is an extremely rare condition in papillary thyroid carcinoma. Thrombosis of IJV is probably underdiagnosed. Early-stage diagnosis is important for long-term survival rates.

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