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在小型散发性前庭神经鞘瘤中使用下一代测序分析癌症相关基因的遗传变异。

Genetic variants of cancer‑associated genes analyzed using next‑generation sequencing in small sporadic vestibular schwannomas.

作者信息

Fujita Takeshi, Sakai Kazuko, Uehara Natsumi, Hoshi Yujiro, Mori Anjin, Koyama Hajime, Sato Mitsuo, Saito Kazuya, Osaki Yasuhiro, Nishio Kazuto, Doi Katsumi

机构信息

Department of Otolaryngology Head and Neck Surgery, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan.

Department of Genome Biology, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka 589-8511, Japan.

出版信息

Oncol Lett. 2023 Feb 8;25(3):121. doi: 10.3892/ol.2023.13707. eCollection 2023 Mar.

Abstract

Vestibular schwannoma (VS) is the most common tumor of the cerebellopontine angle. Despite the increasing diagnosis of sporadic VS over the past decade, the use of traditional microsurgeries to treat VS has decreased. This is likely a result of the adoption of serial imaging as the most common initial evaluation and treatment strategy, especially for small-sized VS. However, the pathobiology of VSs remains unclear, and elucidating the genetic information of tumor tissue may reveal novel insights. The present study performed a comprehensive genomic analysis of all exons in the key tumor suppressor and oncogenes from 10 small (<15 mm) sporadic VS samples. The evaluations identified and as mutated genes. The current study could not draw any new conclusions about the relationship between VS-related hearing loss and gene mutations; however, it did reveal that was the most frequently mutated gene in small sporadic VS.

摘要

前庭神经鞘瘤(VS)是桥小脑角最常见的肿瘤。尽管在过去十年中散发性VS的诊断有所增加,但用于治疗VS的传统显微手术的使用却减少了。这可能是由于采用系列成像作为最常见的初始评估和治疗策略的结果,尤其是对于小型VS。然而,VS的病理生物学仍不清楚,阐明肿瘤组织的遗传信息可能会揭示新的见解。本研究对10个小(<15mm)散发性VS样本中关键肿瘤抑制基因和癌基因的所有外显子进行了全面的基因组分析。评估确定 和 为突变基因。目前的研究无法就VS相关听力损失与基因突变之间的关系得出任何新结论;然而,它确实揭示了 在小散发性VS中是最常发生突变的基因。

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