RNA-sequencing highlights differential regulated pathways involved in cell cycle and inflammation in orbitofacial neurofibromas.
RNA-sequencing highlights differential regulated pathways involved in cell cycle and inflammation in orbitofacial neurofibromas.
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DOI：
10.1111/bpa.13007
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发表时间：
2022-01
期刊：
影响因子：
--
通讯作者：
Rodriguez FJ
中科院分区：
文献类型：
--
作者：
Imada EL;Strianese D;Edward DP;alThaqib R;Price A;Arnold A;Al-Hussain H;Marchionni L;Rodriguez FJ
虽然神经纤维瘤 (NF) 最常见的是良性，但除了可能发生恶变之外，还可能对功能和美观产生破坏性影响。尤其是眼眶面部神经纤维瘤，可能会导致眼睑、额头、太阳穴、面部和眼眶的进行性、毁容性肿瘤，临床证据表明，与其他部位发生的神经纤维瘤相比，它们可能具有更强的局部侵袭性。本研究的目的是确定眼眶面部神经纤维瘤和发生在其他解剖部位的神经纤维瘤之间的生物学差异。我们对眼眶面 (n = 10) 和非眼眶面 (n = 9) NF 进行了 RNA 测序。差异基因表达分析表明，眼眶面部神经纤维瘤中富集了多种基因组，包括细胞增殖、干扰素和免疫相关途径相关的基因。与各种施万细胞瘤和恶性周围神经鞘瘤（MPNST）的公开数据库进行比较，发现眶面神经纤维瘤与非眶面部神经纤维瘤以及丛状神经纤维瘤与MPNST之间的差异表达基因显着重叠。总之，我们确定了眼眶面部 NF 和其他位置发生的 NF 之间的基因表达差异。鉴于眼眶面部神经纤维瘤非常难以治疗并且发病率不成比例，因此可能有必要进行进一步的研究。通过 RNA 测序分析检测眼眶面部神经纤维瘤和发生在其他解剖位置的神经纤维瘤之间的整体基因表达差异。通过基因富集分析专门检测到涉及细胞周期和炎症的途径的差异，支持了先前的临床观察结果，表明与其他解剖部位发生的神经纤维瘤相比，眶面神经纤维瘤在生物学上是不同的。
Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. Orbitofacial NFs, in particular, may cause progressive, disfiguring tumors of the lid, brow, temple, face, and orbit, and clinical evidence suggests that they may have increased local aggressiveness compared to NFs developing at other sites. The purpose of this study was to identify biological differences between orbitofacial NFs and those occurring at other anatomic sites. We performed RNA‐sequencing in orbitofacial (n = 10) and non‐orbitofacial (n = 9) NFs. Differential gene expression analysis demonstrated that a variety of gene sets including genes involved in cell proliferation, interferon, and immune‐related pathways were enriched in orbitofacial NF. Comparisons with publicly available databases of various Schwann cell tumors and malignant peripheral nerve sheath tumor (MPNST) revealed a significant overlap of differentially expressed genes between orbitofacial versus non‐orbitofacial NF and plexiform NF versus MPNST. In summary, we identified gene expression differences between orbitofacial NF and NFs occurring at other locations. Further investigation may be warranted, given that orbitofacial NF are notoriously difficult to treat and associated with disproportionate morbidity. Global gene expression differences between orbitofacial neurofibromas and neurofibromas occurring at other anatomic locations were deteted through RNA sequencing analysis. Differences in pathways involved in cell cycle and inflammation were specifically detected through gene enrichment analyses, supporting prior clinical observations suggesting that orbitofacial neurofibromas are biologically distinct compared to neurofibromas developing in other anatomical sites.
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影响因子：
14.9
作者：
Ritchie ME;Phipson B;Wu D;Hu Y;Law CW;Shi W;Smyth GK
通讯作者：
Smyth GK
影响因子：
12.3
作者：
Robinson MD;Oshlack A
通讯作者：
Oshlack A
影响因子：
5.2
作者：
Jia, Jing;Zhang, Haibao;Shu, Maoguo
通讯作者：
Shu, Maoguo
影响因子：
2.8
作者：
Ross, Ashley E.;Marchionni, Luigi;Schaeffer, Edward M.
通讯作者：
Schaeffer, Edward M.
DOI：
10.1093/noajnl/vdz044
发表时间：
2020-07-01
期刊：
NEURO-ONCOLOGY ADVANCES
影响因子：
--
作者：
Li, Stephen;Chen, Zhiguo;Le, Lu Q.
通讯作者：
Le, Lu Q.