• 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

导致戈林综合征家族三代人患脑膜瘤的新型移码变异体

Novel Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.

作者信息

Askaner Gustav, Lei Ulrikke, Bertelsen Birgitte, Venzo Alessandro, Wadt Karin

机构信息

Department of Plastic Surgery, Hospital South West Jutland, Esbjerg, Denmark.

Department of Dermatology and Allergy, Gentofte Hospital and Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

出版信息

Case Rep Genet. 2019 Jul 28;2019:9650184. doi: 10.1155/2019/9650184. eCollection 2019.

DOI:10.1155/2019/9650184
PMID:31485359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6702821/
Abstract

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes and , both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with and pathogenic variants seem to differ. We present a family with a frameshift variant in the gene c.954del, p.Asn319Thrfs42 leading to meningiomas and multiple basal cell-carcinomas.

摘要

戈林综合征主要由肿瘤抑制基因 和 中的致病性种系变异引起，这两个基因都是刺猬信号通路中的调节基因。然而，携带 和 致病性变异的患者的表型似乎有所不同。我们报告了一个家族，该家族的 基因存在c.954del的移码变异，即p.Asn319Thrfs42，导致了脑膜瘤和多发性基底细胞癌。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/5ba473c53a90/CRIG2019-9650184.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/cd40d281b276/CRIG2019-9650184.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/69f958d112c0/CRIG2019-9650184.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/5ba473c53a90/CRIG2019-9650184.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/cd40d281b276/CRIG2019-9650184.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/69f958d112c0/CRIG2019-9650184.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a71a/6702821/5ba473c53a90/CRIG2019-9650184.003.jpg

相似文献

1
Novel Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.导致戈林综合征家族三代人患脑膜瘤的新型移码变异体
Case Rep Genet. 2019 Jul 28;2019:9650184. doi: 10.1155/2019/9650184. eCollection 2019.
2
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.SUFU 种系突变导致 Gorlin 综合征相关儿童髓母细胞瘤，并重新定义了与 PTCH1 突变相关的风险。
J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.
3
First evidence of genotype-phenotype correlations in Gorlin syndrome.戈林综合征基因型与表型相关性的首个证据。
J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.
4
Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.携带 SUFU 种系变异的患者中的髓母细胞瘤和其他肿瘤：范围综述。
Am J Med Genet A. 2024 Jun;194(6):e63496. doi: 10.1002/ajmg.a.63496. Epub 2024 Jan 28.
5
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort.确定来自HIT-MED队列的基因确诊戈林综合征患者的疾病谱、治疗方法和预后。
Front Oncol. 2021 Nov 23;11:756025. doi: 10.3389/fonc.2021.756025. eCollection 2021.
6
Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.胚系 SUFU 突变患者的临床病理和分子谱：病例系列。
J Cutan Pathol. 2024 Dec;51(12):980-986. doi: 10.1111/cup.14720. Epub 2024 Sep 14.
7
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.戈林综合征中刺猬相关基因的多层突变可能影响表型。
PLoS One. 2017 Sep 15;12(9):e0184702. doi: 10.1371/journal.pone.0184702. eCollection 2017.
8
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.两例神经嵴来源的基底细胞痣综合征相关脑膜瘤，由 PTCH1 或 SUFU 种系突变引起。
Fam Cancer. 2012 Dec;11(4):565-70. doi: 10.1007/s10689-012-9548-0.
9
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).当前戈林综合征癌症监测建议：来自 SIOPE 宿主基因组工作组（SIOPE HGWG）的报告。
Fam Cancer. 2021 Oct;20(4):317-325. doi: 10.1007/s10689-021-00247-z. Epub 2021 Apr 16.
10
Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.PTCH1 和 SUFU 突变型髓母细胞瘤之间的 RNA 和 microRNA 表达差异。
Cancer Genomics Proteomics. 2021 May-Jun;18(3):335-347. doi: 10.21873/cgp.20264.

引用本文的文献

1
European Association of Neuro-Oncology guideline on molecular testing of meningiomas for targeted therapy selection.欧洲神经肿瘤学会关于脑膜瘤分子检测以选择靶向治疗的指南。
Neuro Oncol. 2025 May 15;27(4):869-883. doi: 10.1093/neuonc/noae253.
2
Meningioma: International Consortium on Meningiomas consensus review on scientific advances and treatment paradigms for clinicians, researchers, and patients.脑膜瘤：脑膜瘤国际联合会关于临床医生、研究人员和患者的科学进展和治疗模式的共识综述。
Neuro Oncol. 2024 Oct 3;26(10):1742-1780. doi: 10.1093/neuonc/noae082.
3
Recent advances in the molecular prognostication of meningiomas.

本文引用的文献

1
Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.SUFU和PTCH1基因的突变可能导致不同的皮肤癌易感性综合征：相似但不相同。
Fam Cancer. 2018 Oct;17(4):601-606. doi: 10.1007/s10689-018-0073-7.
2
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.戈林综合征中刺猬相关基因的多层突变可能影响表型。
PLoS One. 2017 Sep 15;12(9):e0184702. doi: 10.1371/journal.pone.0184702. eCollection 2017.
3
First evidence of genotype-phenotype correlations in Gorlin syndrome.
脑膜瘤分子预后评估的最新进展
Front Oncol. 2023 Jan 4;12:910199. doi: 10.3389/fonc.2022.910199. eCollection 2022.
4
Cancer risk and tumour spectrum in 172 patients with a germline pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.172例携带种系致病性变异患者的癌症风险与肿瘤谱：SIOPE宿主基因组工作组的一项合作研究
J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385.
5
Genetic syndromes predisposing to pediatric brain tumors.易患小儿脑肿瘤的遗传综合征。
Neurooncol Pract. 2021 Feb 13;8(4):375-390. doi: 10.1093/nop/npab012. eCollection 2021 Aug.
6
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).当前戈林综合征癌症监测建议：来自 SIOPE 宿主基因组工作组（SIOPE HGWG）的报告。
Fam Cancer. 2021 Oct;20(4):317-325. doi: 10.1007/s10689-021-00247-z. Epub 2021 Apr 16.
7
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.SUFU 中的杂合截短变异导致先天性眼球运动运动不能。
Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7.
戈林综合征基因型与表型相关性的首个证据。
J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.
4
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.戈林综合征队列研究，重点在于标准化表型分析和生活质量评估。
Intern Med J. 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429.
5
Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis.在考虑分子亚组因素后髓母细胞瘤切除范围的预后价值：一项回顾性综合临床与分子分析
Lancet Oncol. 2016 Apr;17(4):484-495. doi: 10.1016/S1470-2045(15)00581-1. Epub 2016 Mar 12.
6
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.SUFU 种系突变导致 Gorlin 综合征相关儿童髓母细胞瘤，并重新定义了与 PTCH1 突变相关的风险。
J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.
7
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.PTCH2 基因的移码突变可导致结节性基底细胞癌综合征。
Fam Cancer. 2013 Dec;12(4):611-4. doi: 10.1007/s10689-013-9623-1.
8
Loss of SUFU function in familial multiple meningioma.家族性多发性脑膜瘤中 SUFU 功能丧失。
Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015.
9
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.两例神经嵴来源的基底细胞痣综合征相关脑膜瘤，由 PTCH1 或 SUFU 种系突变引起。
Fam Cancer. 2012 Dec;11(4):565-70. doi: 10.1007/s10689-012-9548-0.
10
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.3 岁以下促纤维增生/结节性髓母细胞瘤患儿中胚系 SUFU 突变的高频发生。
J Clin Oncol. 2012 Jun 10;30(17):2087-93. doi: 10.1200/JCO.2011.38.7258. Epub 2012 Apr 16.