دورية أكاديمية
Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.
| العنوان: | Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing. |
|---|---|
| المؤلفون: | 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. |
| المصدر: | 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). |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Cold Spring Harbor, NY] : Cold Spring Harbor Laboratory Press, [2015]- |
| مواضيع طبية MeSH: | Li-Fraumeni Syndrome*/genetics , Choroid Plexus Neoplasms*/genetics , Choroid Plexus Neoplasms*/pathology, Child ; Humans ; Male ; Female ; United States ; Brazil ; Exome Sequencing ; Genomics |
| مستخلص: | 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.) |
| References: | J Natl Cancer Inst. 1969 Dec;43(6):1365-73. (PMID: 5396222) Eur J Hum Genet. 2014 Jul;22(7):875-80. (PMID: 24193342) Nat Biotechnol. 2013 Mar;31(3):213-9. (PMID: 23396013) Nature. 2020 May;581(7809):434-443. (PMID: 32461654) J Neurooncol. 2009 Dec;95(3):383-392. (PMID: 19543851) Clin Cancer Res. 2015 Jan 1;21(1):184-92. (PMID: 25336695) Genet Med. 2022 May;24(5):986-998. (PMID: 35101336) Appl Immunohistochem Mol Morphol. 2018 Feb;26(2):e15-e21. (PMID: 28877075) J Clin Oncol. 2010 Apr 20;28(12):1995-2001. (PMID: 20308654) Chin J Cancer. 2011 Oct;30(10):669-81. (PMID: 21959044) J Mol Diagn. 2017 Jan;19(1):4-23. (PMID: 27993330) Mol Cell. 2018 Jul 5;71(1):178-190.e8. (PMID: 29979965) Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. (PMID: 24174537) Nat Med. 2022 Feb;28(2):243-250. (PMID: 35145307) Cell Tissue Bank. 2022 Jun;23(2):271-284. (PMID: 34216325) Oncol Lett. 2019 Nov;18(5):5063-5076. (PMID: 31612017) Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. (PMID: 12826609) CA Cancer J Clin. 2021 May;71(3):209-249. (PMID: 33538338) Curr Oncol. 2022 Aug 04;29(8):5517-5530. (PMID: 36005174) Neuro Oncol. 2021 Apr 12;23(4):650-660. (PMID: 33249490) Neuro Oncol. 2020 Oct 30;22(12 Suppl 2):iv1-iv96. (PMID: 33123732) Cancer Res. 2001 Mar 1;61(5):2124-8. (PMID: 11280776) Front Oncol. 2022 Mar 08;12:845527. (PMID: 35530311) Nat Commun. 2021 Feb 10;12(1):937. (PMID: 33568653) Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685) Nature. 2021 Sep;597(7874):119-125. (PMID: 34433969) J Clin Oncol. 2015 Jul 20;33(21):2345-52. (PMID: 26014290) Database (Oxford). 2015 Feb 27;2015:. (PMID: 25725062) Neurooncol Adv. 2020 Dec 15;3(1):vdaa168. (PMID: 33506206) Front Pharmacol. 2017 Sep 25;8:652. (PMID: 28993730) Genome Med. 2018 Mar 28;10(1):25. (PMID: 29592813) Microsc Res Tech. 2001 Jan 1;52(1):104-11. (PMID: 11135453) Oncotarget. 2018 Jun 19;9(47):28691-28701. (PMID: 29983889) Bioinformatics. 2009 Nov 1;25(21):2865-71. (PMID: 19561018) Genome Res. 2006 Sep;16(9):1149-58. (PMID: 16899652) Neuro Oncol. 2021 Aug 2;23(8):1231-1251. (PMID: 34185076) Neuro Oncol. 2017 May 1;19(5):699-709. (PMID: 28453743) Cell. 2019 Mar 21;177(1):26-31. (PMID: 30901543) Nat Genet. 2018 Oct;50(10):1381-1387. (PMID: 30224644) |
| فهرسة مساهمة: | Keywords: neoplasm of the nervous system |
| تواريخ الأحداث: | Date Created: 20230324 Date Completed: 20230328 Latest Revision: 20230512 |
| رمز التحديث: | 20230512 |
| مُعرف محوري في PubMed: | PMC10111795 |
| DOI: | 10.1101/mcs.a006245 |
| PMID: | 36963804 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2373-2873 |
|---|---|
| DOI: | 10.1101/mcs.a006245 |