嗅神经母细胞瘤的基因组学与表观遗传学：一项系统综述
The genomics and epigenetics of olfactory neuroblastoma: A systematic review.
作者信息
Kaur Raman Preet, Izumchenko Evgeny, Blakaj Dukagjin M, Mladkova Nikol, Lechner Matt, Beaumont Thomas L, Floudas Charalampos S, Gallia Gary L, London Nyall R
机构信息
Department of Otolaryngology - Head and Neck Surgery Johns Hopkins University Baltimore Maryland USA.
Section of Hematology Oncology, Department of Medicine University of Chicago Medicine Chicago Illinois USA.
出版信息
Laryngoscope Investig Otolaryngol. 2021 Jun 7;6(4):721-728. doi: 10.1002/lio2.597. eCollection 2021 Aug.
BACKGROUND
Olfactory neuroblastoma (ONB) or esthesioneuroblastoma (ENB) is a rare malignancy of the nasal cavity believed to arise from the olfactory epithelium. The goal of this study was to systematically review the genomics, epigenetics, and cytogenetics of ONB and to understand the potential clinical implications of these studies.
METHODS
A systematic literature review was performed for articles published before May 2020 using Cochrane, Embase, Pubmed, and Scopus databases. Inclusion criteria included genomics, cytogenetics, and epigenetics studies on ONB. Exclusion criteria included studies not in English or systematic reviews. Articles and abstracts were reviewed by two independent reviewers to reduce bias during article selection and synthesis of results. Of the 36 studies included in this review, 24 were research articles and 12 were abstracts.
RESULTS
Although recurrent mutations among ONB tumors are uncommon, alterations in , , , , , , , , , , , , , , , and genes have been reported in several recent studies. In addition, cytogenetic studies revealed that the landscape of chromosomal aberrations varies widely amongst ONB tumors.
CONCLUSIONS
The rare character of ONB has limited the sample size available for cytogenetic, genomic, and epigenetic studies and contributes to the limitations of this systematic review. Comprehensive genomic and epigenomic studies with larger cohorts are warranted to validate the initial reports summarized in this review and to identify potential therapeutic targets for ONB.
背景
嗅神经母细胞瘤（ONB）或嗅感觉神经母细胞瘤（ENB）是一种罕见的鼻腔恶性肿瘤，被认为起源于嗅上皮。本研究的目的是系统回顾ONB的基因组学、表观遗传学和细胞遗传学，并了解这些研究的潜在临床意义。
方法
使用Cochrane、Embase、Pubmed和Scopus数据库对2020年5月之前发表的文章进行系统文献回顾。纳入标准包括关于ONB的基因组学、细胞遗传学和表观遗传学研究。排除标准包括非英文研究或系统评价。由两名独立审稿人对文章和摘要进行评审，以减少文章选择和结果综合过程中的偏差。本综述纳入的36项研究中，24项为研究文章，12项为摘要。
结果
虽然ONB肿瘤中的复发性突变并不常见，但最近的几项研究报道了 、 、 、 、 、 、 、 、 、 、 、 、 、 和 基因的改变。此外，细胞遗传学研究表明，ONB肿瘤之间的染色体畸变情况差异很大。
结论
ONB的罕见特性限制了可用于细胞遗传学、基因组学和表观遗传学研究的样本量，导致了本系统综述的局限性。有必要进行更大样本量的综合基因组和表观基因组研究，以验证本综述中总结的初步报告，并确定ONB的潜在治疗靶点。
Zotero 插件