两种巴西脉络膜丛肿瘤的全外显子组测序。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Felipe Antonio de Oliveira Garcia, Adriane Feijó Evangelista, Bruna Minniti Mançano, Daniel Antunes Moreno, Gustavo Noriz Berardinelli, Flávia Escremim de Paula, Augusto Perazzolo Antoniazzi, Carlos Almeida Júnior, Ismael Lombardi, Iara Santana, Gustavo Ramos Teixeira, Caio Evangelista Costa, Rui Manuel Reis
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引用次数: 1

摘要

脉络膜丛肿瘤(CPTs)是一种罕见的颅内肿瘤,在Li-Fraumeni综合征的背景下代表TP53种系突变,其体细胞驱动改变仍然知之甚少。在本研究中,我们报告了两例侧脑室肿瘤:3岁男性诊断为非典型脉络丛乳头状瘤(aCPP), 6岁女性诊断为脉络丛癌(CPC)。我们对两名患者的配对血液和肿瘤组织进行了全外显子组测序,对体细胞变异进行了分类,并确定了拷贝数的改变。我们的分析显示,在aCPP中,H3和TP53乙酰化剂BRD1存在二级变异(分子病理学协会[AMP]标准)。此外,我们在该肿瘤的12、18和20号染色体上检测到拷贝数增加,在13q和22q号染色体(BRD1位点)上检测到拷贝数减少。根据美国医学遗传学学院(ACMG)的标准,CPC肿瘤只有一种致病性种系TP53变异,具有Li-Fraumeni综合征的临床和熟悉的病史。CPC患者表现为TP53位点和超二倍体基因组杂合性缺失(LoH)。两个肿瘤都是微卫星稳定的。这是第一个在巴西脉络膜丛肿瘤中进行全外显子组测序的研究,与文献一致,我们证实了这些肿瘤中没有复发性体细胞突变。进一步的研究需要更大的样本量来证实我们的发现,并更好地了解这些肿瘤的潜在生物学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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

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

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.

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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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