• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

ROS1 改变作为婴儿、儿童和成年患者神经胶质瘤的潜在驱动因素。

ROS1 Alterations as a Potential Driver of Gliomas in Infant, Pediatric, and Adult Patients.

机构信息

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, University of Missouri School of Medicine, Kansas City, Missouri.

出版信息

Mod Pathol. 2023 Nov;36(11):100294. doi: 10.1016/j.modpat.2023.100294. Epub 2023 Jul 31.

DOI:10.1016/j.modpat.2023.100294
PMID:37532182
Abstract

Gliomas harboring oncogenic ROS1 alterations are uncommon and primarily described in infants. Our goal was to characterize the clinicopathological features and molecular signatures of the full spectrum of ROS1 fusion-positive gliomas across all age groups. Through a retrospective multi-institutional collaboration, we report a collection of unpublished ROS1 fusion gliomas along with the characterization and meta-analysis of new and published cases. A cohort of 32 new and 58 published cases was divided into the following 3 age groups: 19 infants, 40 pediatric patients, and 31 adults with gliomas. Tumors in infants and adults showed uniformly high-grade morphology; however, tumors in pediatric patients exhibited diverse histologic features. The GOPC::ROS1 fusion was prevalent (61/79, 77%) across all age groups, and 10 other partner genes were identified. Adult tumors showed recurrent genomic alterations characteristic of IDH wild-type glioblastoma, including the +7/-10/CDKN2A deletion; amplification of CDK4, MDM2, and PDGFRA genes; and mutations involving TERTp, TP53, PIK3R1, PIK3CA, PTEN, and NF1 genes. Infant tumors showed few genomic alterations, whereas pediatric tumors showed moderate genomic complexity. The outcomes were significantly poorer in adult patients. Although not statistically significant, tumors in infant and pediatric patients with high-grade histology and in hemispheric locations appeared more aggressive than tumors with lower grade histology or those in nonhemispheric locations. In conclusion, this study is the largest to date to characterize the clinicopathological and molecular signatures of ROS1 fusion-positive gliomas from infant, pediatric, and adult patients. We conclude that ROS1 likely acts as a driver in infant and pediatric gliomas and as a driver or codriver in adult gliomas. Integrated comprehensive clinical testing might be helpful in identifying such patients for possible targeted therapy.

摘要

携有致癌性 ROS1 改变的神经胶质瘤较为少见,主要在婴儿中被描述。我们的目标是描述全年龄段 ROS1 融合阳性神经胶质瘤的临床病理特征和分子特征。通过回顾性多机构合作,我们报告了一系列未发表的 ROS1 融合神经胶质瘤,以及对新的和已发表病例的特征描述和荟萃分析。一个由 32 例新病例和 58 例已发表病例组成的队列被分为以下 3 个年龄组:19 例婴儿、40 例儿科患者和 31 例成人。婴儿和成人的肿瘤均表现为形态均匀的高级别;然而,儿科患者的肿瘤表现出多样化的组织学特征。GOPC::ROS1 融合在所有年龄组中均普遍存在(79 例中有 61 例,77%),还发现了 10 个其他的融合伙伴基因。成人肿瘤显示出 IDH 野生型胶质母细胞瘤的典型复发性基因组改变,包括+7/-10/CDKN2A 缺失;CDK4、MDM2 和 PDGFRA 基因的扩增;以及 TERTp、TP53、PIK3R1、PIK3CA、PTEN 和 NF1 基因的突变。婴儿肿瘤的基因组改变较少,而儿科肿瘤显示出中等程度的基因组复杂性。成人患者的结局明显较差。虽然没有统计学意义,但高级别组织学和位于大脑半球的婴儿和儿科患者的肿瘤似乎比低级别组织学或非大脑半球位置的肿瘤更具侵袭性。总之,这项研究是迄今为止最大的一项研究,旨在描述来自婴儿、儿童和成人患者的 ROS1 融合阳性神经胶质瘤的临床病理和分子特征。我们得出的结论是,ROS1 可能在婴儿和儿童神经胶质瘤中作为驱动基因,在成人神经胶质瘤中作为驱动基因或共驱动基因。综合全面的临床检测可能有助于识别此类患者,以便进行可能的靶向治疗。

相似文献

1
ROS1 Alterations as a Potential Driver of Gliomas in Infant, Pediatric, and Adult Patients.ROS1 改变作为婴儿、儿童和成年患者神经胶质瘤的潜在驱动因素。
Mod Pathol. 2023 Nov;36(11):100294. doi: 10.1016/j.modpat.2023.100294. Epub 2023 Jul 31.
2
GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.6q22 微缺失导致的 GOPC-ROS1 融合是一组儿童神经胶质瘤和神经胶质神经元肿瘤的致癌驱动基因。
J Neuropathol Exp Neurol. 2019 Dec 1;78(12):1089-1099. doi: 10.1093/jnen/nlz093.
3
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases.李-佛美尼综合征成年患者中伴 PDGFRA 扩增的小儿型高级别神经胶质瘤:三例患者的临床和分子特征。
Acta Neuropathol Commun. 2024 Apr 11;12(1):57. doi: 10.1186/s40478-024-01762-7.
4
Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.对 282 例儿童低级别和高级别神经胶质瘤的全面基因组分析揭示了基因组驱动因素、肿瘤突变负担和超突变特征。
Oncologist. 2017 Dec;22(12):1478-1490. doi: 10.1634/theoncologist.2017-0242. Epub 2017 Sep 14.
5
Genomic and epigenomic re-categorization of congenital glioblastoma and desmoplastic infantile ganglioglioma.先天性胶质母细胞瘤和促结缔组织增生性婴儿节细胞胶质瘤的基因组和表观基因组再分类。
Childs Nerv Syst. 2023 Jul;39(7):1861-1868. doi: 10.1007/s00381-023-05848-w. Epub 2023 Jan 28.
6
Identification of a novel KLC1-ROS1 fusion in a case of pediatric low-grade localized glioma.鉴定一例儿童低级别局限性神经胶质瘤中的新型 KLC1-ROS1 融合。
Brain Tumor Pathol. 2019 Jan;36(1):14-19. doi: 10.1007/s10014-018-0330-3. Epub 2018 Oct 22.
7
Molecular and clinicopathologic features of gliomas harboring NTRK fusions.携带有 NTRK 融合的神经胶质瘤的分子及临床病理特征。
Acta Neuropathol Commun. 2020 Jul 14;8(1):107. doi: 10.1186/s40478-020-00980-z.
8
Molecular landscape of pediatric type IDH wildtype, H3 wildtype hemispheric glioblastomas.小儿 IDH 野生型、H3 野生型半球胶质瘤的分子图谱。
Lab Invest. 2022 Jul;102(7):731-740. doi: 10.1038/s41374-022-00769-9. Epub 2022 Mar 24.
9
A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4.390 例 H3F3A 突变型小儿和成人弥漫性高级别神经胶质瘤,CNS WHO 分级 4 的全面基因组研究
Acta Neuropathol. 2023 Sep;146(3):515-525. doi: 10.1007/s00401-023-02609-6. Epub 2023 Jul 31.
10
[Tyrosine kinase receptor gene fusion: A series of four cases of infantile-type hemispheric glioma].[酪氨酸激酶受体基因融合:四例婴儿型半球胶质瘤病例系列]
Ann Pathol. 2023 Nov;43(6):462-474. doi: 10.1016/j.annpat.2023.07.003. Epub 2023 Aug 25.

引用本文的文献

1
Genomewide association study of a homogeneous multiple sclerosis cohort: Tumefactive demyelination.同质多发性硬化队列的全基因组关联研究:瘤样脱髓鞘病变
Mult Scler. 2025 Sep 8:13524585251371984. doi: 10.1177/13524585251371984.
2
Illuminating radiogenomic signatures in pediatric-type diffuse gliomas: insights into molecular, clinical, and imaging correlations. Part I: high-grade group.小儿型弥漫性胶质瘤中具有启发性的放射基因组特征:分子、临床和影像相关性洞察。第一部分:高级别组。
Radiol Med. 2025 Aug 25. doi: 10.1007/s11547-025-02078-9.
3
Exploring the Profiles of ROS1 Tyrosine Kinase: A Structural Analysis of G2032R and D2033N Mutations.
探索ROS1酪氨酸激酶的概况:G2032R和D2033N突变的结构分析
Int J Appl Basic Med Res. 2025 Jan-Mar;15(1):4-10. doi: 10.4103/ijabmr.ijabmr_43_24. Epub 2025 Jan 9.
4
Rare Oncogenic Fusions in Pediatric Central Nervous System Tumors: A Case Series and Literature Review.儿童中枢神经系统肿瘤中的罕见致癌融合:病例系列及文献综述
Cancers (Basel). 2024 Sep 30;16(19):3344. doi: 10.3390/cancers16193344.
5
Molecular-targeted therapy for childhood low-grade glial and glioneuronal tumors.儿童低级别神经胶质瘤和神经胶质神经元肿瘤的分子靶向治疗。
Childs Nerv Syst. 2024 Oct;40(10):3251-3262. doi: 10.1007/s00381-024-06486-6. Epub 2024 Jun 15.
6
Prolonged response to entrectinib in an adult patient with recurrent glioblastoma harboring a fusion.一名患有复发性胶质母细胞瘤且携带 融合基因的成年患者对恩曲替尼产生持久反应。
Neurooncol Adv. 2024 May 11;6(1):vdae077. doi: 10.1093/noajnl/vdae077. eCollection 2024 Jan-Dec.
7
Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients.儿童和成人BRAF及非BRAF丝裂原活化蛋白激酶(MAPK)通路改变的胶质瘤的临床病理分析:一项针对40例患者的单机构研究
J Clin Pathol. 2025 Feb 18;78(3):177-186. doi: 10.1136/jcp-2023-209318.