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弥漫性胶质瘤——罕见的异柠檬酸脱氢酶纯合子点突变，它是一种致癌机制吗？

Diffuse glioma - Rare homozygous IDH point mutation, is it an oncogenetic mechanism?

作者信息

Singh Angad, Gurav Mamta, Dhanavade Sandeep, Shetty Omshree, Epari Sridhar

机构信息

Division of Molecular Pathology, Department of Pathology, Tata Memorial Centre, Parel, Mumbai, India.

出版信息

Neuropathology. 2017 Dec;37(6):582-585. doi: 10.1111/neup.12401. Epub 2017 Aug 7.

DOI:10.1111/neup.12401
PMID:28782849
Abstract

Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.

摘要

世界卫生组织（WHO）二级/三级胶质瘤和继发性胶质母细胞瘤中的异柠檬酸脱氢酶（IDH1/IDH2）突变几乎均为杂合错义突变。在此，我们报告了1例极为罕见的复发性WHO三级间变性星形细胞瘤中存在纯合IDH1R132H突变的病例。本文作者还回顾了相关文献，以探讨IDH1/2纯合突变在胶质瘤发生过程中可能产生的代谢影响。

相似文献

1
Diffuse glioma - Rare homozygous IDH point mutation, is it an oncogenetic mechanism?弥漫性胶质瘤——罕见的异柠檬酸脱氢酶纯合子点突变，它是一种致癌机制吗？
Neuropathology. 2017 Dec;37(6):582-585. doi: 10.1111/neup.12401. Epub 2017 Aug 7.
2
[Mutation of isocitrate dehydrogenase gene in Chinese patients with glioma].[中国胶质瘤患者异柠檬酸脱氢酶基因突变情况]
Zhonghua Bing Li Xue Za Zhi. 2013 May;42(5):292-8. doi: 10.3760/cma.j.issn.0529-5807.2013.05.002.
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Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas.IDH1和IDH2突变的类型及频率与星形胶质细胞和少突胶质细胞分化及年龄相关：一项对1010例弥漫性胶质瘤的研究
Acta Neuropathol. 2009 Oct;118(4):469-74. doi: 10.1007/s00401-009-0561-9. Epub 2009 Jun 25.
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IDH mutations may not preclude distant, trans-tentorial spread in gliomas: a case report and review of the literature.异柠檬酸脱氢酶（IDH）突变可能并不排除胶质瘤出现远处经小脑幕播散：一例病例报告及文献复习
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[IDH1/2 mutations in gliomas].[胶质瘤中的异柠檬酸脱氢酶1/2（IDH1/2）突变]
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Isocitrate dehydrogenase 1 R132H mutation is not detected in angiocentric glioma.未见血管中心性胶质瘤中异柠檬酸脱氢酶 1 R132H 突变。
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Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas.IDH1 野生型间变性星形细胞瘤患者的预后比 IDH1 突变型胶质母细胞瘤差，IDH1 突变状态解释了高龄的不良预后影响：对胶质瘤分类的影响。
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Molecular investigation of isocitrate dehydrogenase gene (IDH) mutations in gliomas: first report of IDH2 mutations in Indian patients.胶质瘤中异柠檬酸脱氢酶基因（IDH）突变的分子研究：印度患者中IDH2突变的首次报道。
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Estimation of the occurrence rates of and mutations in gliomas and the reconsideration of -wildtype anaplastic astrocytomas: an institutional experience.评估胶质瘤中 和 突变的发生率和对野生型间变性星形细胞瘤的再思考：机构经验。
J Int Med Res. 2021 Jun;49(6):3000605211019258. doi: 10.1177/03000605211019258.
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Accelerated progression of IDH mutant glioma after first recurrence.首次复发后 IDH 突变型胶质瘤的加速进展。
Neuro Oncol. 2019 May 6;21(5):669-677. doi: 10.1093/neuonc/noz016.

引用本文的文献

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Development and Validation of a Prognostic Molecular Phenotype and Clinical Characterization in Grade III Diffuse Gliomas Treatment with Radio-Chemotherapy.III级弥漫性胶质瘤放化疗治疗中预后分子表型的开发与验证及临床特征分析
Ther Clin Risk Manag. 2025 Jan 6;21:35-53. doi: 10.2147/TCRM.S478905. eCollection 2025.
2
The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.TP53基因热点突变型星形细胞瘤中的主要突变R273C具有独特的病理特征和性别特异性的预后意义。
Neurooncol Adv. 2021 Dec 11;4(1):vdab182. doi: 10.1093/noajnl/vdab182. eCollection 2022 Jan-Dec.
3
The implications of IDH mutations for cancer development and therapy.
异柠檬酸脱氢酶（IDH）突变对癌症发展和治疗的影响。
Nat Rev Clin Oncol. 2021 Oct;18(10):645-661. doi: 10.1038/s41571-021-00521-0. Epub 2021 Jun 15.
4
FABP5 enhances malignancies of lower-grade gliomas via canonical activation of NF-κB signaling.FABP5 通过经典激活 NF-κB 信号促进低级别神经胶质瘤的恶性转化。
J Cell Mol Med. 2021 May;25(9):4487-4500. doi: 10.1111/jcmm.16536. Epub 2021 Apr 9.
5
Current biomarker-associated procedures of cancer modeling-a reference in the context of IDH1 mutant glioma.当前与癌症建模相关的生物标志物程序——在 IDH1 突变型胶质瘤背景下的参考。
Cell Death Dis. 2020 Nov 21;11(11):998. doi: 10.1038/s41419-020-03196-0.
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Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas.脊髓星形细胞瘤中异柠檬酸脱氢酶1（IDH1）突变的罕见病例
Acta Naturae. 2020 Apr-Jun;12(2):70-73. doi: 10.32607/actanaturae.10915.
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To be Wild or Mutant: Role of Isocitrate Dehydrogenase 1 (IDH1) and 2-Hydroxy Glutarate (2-HG) in Gliomagenesis and Treatment Outcome in Glioma.是野生型还是突变型：异柠檬酸脱氢酶 1（IDH1）和 2-羟戊二酸（2-HG）在胶质瘤发生和胶质瘤治疗结果中的作用。
Cell Mol Neurobiol. 2020 Jan;40(1):53-63. doi: 10.1007/s10571-019-00730-3. Epub 2019 Sep 4.