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Next-generation sequencing of cerebrospinal fluid for clinical molecular diagnostics in pediatric, adolescent and young adult brain tumor patients.

Alexandra M MillerLuca SzalontayNancy BouvierKatherine HillHamza AhmadJohnathan RafailovAlex J LeeM Irene Rodriguez-SanchezOnur YildirimArti PatelTejus A BaleJamal K BenhamidaRyma BenayedMaria E ArcilaMaria DonzelliIra J DunkelStephen W GilheeneyYasmin KhakooKim KramerSameer F SaitJeffrey P GreenfieldMark M SouweidaneSofia HaqueAudrey MauguenMichael F BergerIngo K MellinghoffMatthias A Karajannis
Published in: Neuro-oncology (2022)
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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