Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.

Autor:	Garcia FAO; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Evangelista AF; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Mançano BM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Moreno DA; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Berardinelli GN; Laboratory of Molecular Diagnostics, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., de Paula FE; Laboratory of Molecular Diagnostics, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Antoniazzi AP; Oncogenetics Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Júnior CA; Pediatric Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Lombardi I; Neurosurgery Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Santana I; Pathology Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Teixeira GR; Pathology Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil.; Barretos School of Health Sciences Dr. Paulo Prata-FACISB 14785-002., Costa CE; Pathology Department, Barretos Cancer Hospital, Barretos, 14784-400, Brazil., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, 14784-400, Brazil; ruireis.hcb@gmail.com rreis@med.uminho.pt.; Laboratory of Molecular Diagnostics, Barretos Cancer Hospital, Barretos, 14784-400, Brazil.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, 4710-057, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, 4710-057, Portugal.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 Mar 24; Vol. 9 (1). Date of Electronic Publication: 2023 Mar 24 (Print Publication: 2023).
DOI:	10.1101/mcs.a006245
Abstrakt:	Choroid plexus tumors (CPTs) are rare intracranial neoplasms, representing <1% of all brain tumors, yet they represent 20% of first-year pediatric brain tumors. Although these tumors have been linked to TP53 germline mutations in the context of Li-Fraumeni syndrome, their somatic driver alterations remain poorly understood. In this study, we report two cases of lateral ventricle tumors: 3-yr-old male diagnosed with an atypical choroid plexus papilloma (aCPP), and a 6-mo-old female diagnosed with a choroid plexus carcinoma (CPC). We performed whole-exome sequencing of paired blood and tumor tissue in both patients, categorized somatic variants, and determined copy-number alterations. Our analysis revealed a tier II variant (Association for Molecular Pathology [AMP] criteria) in BRD1, a H3 and TP53 acetylation agent, in the aCPP. In addition, we detected copy-number gains on Chromosomes 12, 18, and 20 and copy-number losses on Chromosomes 13q and 22q ( BRD1 locus) in this tumor. The CPC tumor had only a pathogenic germline TP53 variant, based on American College of Medical Genetics (ACMG) criteria, with a clinical and familiar history of Li-Fraumeni syndrome. The CPC patient presented loss of heterozygosity (LoH) of TP53 loci and hyperdiploid genome. Both tumors were microsatellite-stable. This is the first study performing whole-exome sequencing in Brazilian choroid plexus tumors, and in line with the literature, we corroborate the absence of recurrent somatic mutations in these tumors. Further studies with larger sample sizes are necessary to confirm our findings and better understand the underlying biology of these tumors. (© 2023 Garcia et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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