The genomic landscape of familial glioma

Sci Adv. 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. Epub 2023 Apr 28. ABSTRACT Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohort of 203 individuals from 189 […]

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

Nat Commun. 2023 Apr 21;14(1):2300. doi: 10.1038/s41467-023-38044-0. ABSTRACT Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups of ependymoma are the supratentorial ZFTA-fusion associated and the posterior fossa ependymoma group A. In both groups, tumors occur mainly in young children and frequently recur after treatment. Although […]

N-myc mediated translation control is a therapeutic vulnerability in medulloblastoma

Cancer Res. 2022 Oct 20:CAN-22-0945. doi: 10.1158/0008-5472.CAN-22-0945. Online ahead of print. ABSTRACT Deregulation of N-myc is a leading cause of malignant brain tumors in children. To target N-myc-driven medulloblastoma, most research has focused on identifying genomic alterations or on the analysis of the medulloblastoma transcriptome. Here, we have broadly characterized the translatome of medulloblastoma and […]

Safety and efficacy of intraventricular immunovirotherapy with oncolytic HSV-1 for CNS cancers

Clin Cancer Res. 2022 Oct 14:CCR-22-1382. doi: 10.1158/1078-0432.CCR-22-1382. Online ahead of print. ABSTRACT PURPOSE: Oncolytic virotherapy with herpes simplex virus-1 (HSV) has shown promise for treatment of pediatric and adult brain tumors; however, completed and ongoing clinical trials have utilized intratumoral/peritumoral oncolytic HSV (oHSV) inoculation due intraventricular/intrathecal toxicity concerns. Intratumoral delivery requires an invasive neurosurgical […]

Dormant SOX9-positive cells facilitate MYC-driven recurrence of medulloblastoma

Cancer Res. 2022 Oct 11:CAN-22-2108. doi: 10.1158/0008-5472.CAN-22-2108. Online ahead of print. ABSTRACT Relapse is the leading cause of death in patients with medulloblastoma, the most common malignant pediatric brain tumor. A better understanding of the mechanisms underlying recurrence could lead to more effective therapies for targeting tumor relapses. Here, we observed that SOX9, a transcription […]

Development of GPC2-directed chimeric antigen receptors using mRNA for pediatric brain tumors

J Immunother Cancer. 2022 Sep;10(9):e004450. doi: 10.1136/jitc-2021-004450. ABSTRACT BACKGROUND: Pediatric brain tumors are the leading cause of cancer death in children with an urgent need for innovative therapies. Glypican 2 (GPC2) is a cell surface oncoprotein expressed in neuroblastoma for which targeted immunotherapies have been developed. This work aimed to characterize GPC2 expression in pediatric […]

The long non-coding RNA <em>SPRIGHTLY</em> and its binding partner PTBP1 regulate exon 5 skipping of <em>SMYD3</em> transcripts in group 4 medulloblastomas

Neurooncol Adv. 2022 Aug 2;4(1):vdac120. doi: 10.1093/noajnl/vdac120. eCollection 2022 Jan-Dec. ABSTRACT BACKGROUND: Although some of the regulatory genes, signaling pathways, and gene regulatory networks altered in medulloblastomas (MB) are known, the roles of non-coding RNAs, particularly long non-coding RNAs (lncRNAs), are poorly described. Here we report that the lncRNA SPRIGHTLY (SPRY4-IT1) gene is upregulated in […]