Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma

Noll, Alyssa; Myers, Carrie; Biery, Matthew C.; Meechan, Michael; Tahiri, Sophie; Rajendran, Asmitha; Berens, Michael E.; Paine, Danyelle; Byron, Sara; Zhang, Jiaming; Winter, Conrad; Pakiam, Fiona; Leary, Sarah E.S.; Cole, Bonnie L.; Jackson, Evangeline R.; Dun, Matthew D.; Foster, Jessica B.; Evans, Myron K.; Pattwell, Siobhan S.; Olson, James M.; Vitanza, Nicholas A.

doi:10.1016/j.neo.2023.100921

Cited by 2 publications

(1 citation statement)

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“…There is currently an open phase I clinical trial of pembrolizumab in younger patients with brain tumors, especially high-grade gliomas (NCT02359565). Furthermore, preclinical studies show promising results of histone deacetylase inhibition with quisinostat [123].…”

Section: Detecting Germline Variants In the Emerging Era Of Precision...mentioning

confidence: 99%

Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors

Jovanović,

Tošić,

Marjanović

et al. 2023

IJMS

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Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our results indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine.

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Section: Detecting Germline Variants In the Emerging Era Of Precision...mentioning

confidence: 99%