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Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.“双基因型”异柠檬酸脱氢酶（IDH）突变型浸润性胶质瘤单个克隆内伴发的1p/19q共缺失以及IDH1/2、ATRX和TP53突变
Acta Neuropathol. 2020 Jun;139(6):1105-1107. doi: 10.1007/s00401-020-02141-x. Epub 2020 Mar 13.
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Reliability of IDH1-R132H and ATRX and/or p53 immunohistochemistry for molecular subclassification of Grade 2/3 gliomas.IDH1-R132H及ATRX和/或p53免疫组化在2/3级胶质瘤分子亚分类中的可靠性
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Immunohistochemistry on IDH 1/2, ATRX, p53 and Ki-67 substitute molecular genetic testing and predict patient prognosis in grade III adult diffuse gliomas.对异柠檬酸脱氢酶1/2（IDH 1/2）、α地中海贫血/智力低下综合征X连锁基因（ATRX）、p53和Ki-67进行免疫组化检测，可替代分子遗传学检测并预测Ⅲ级成人弥漫性胶质瘤患者的预后。
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ATRX immunohistochemistry can help refine 'not elsewhere classified' categorisation for grade II/III gliomas.ATRX免疫组化有助于完善II/III级胶质瘤的“未另作分类”的分类。
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Zhonghua Bing Li Xue Za Zhi. 2017 Oct 8;46(10):690-694. doi: 10.3760/cma.j.issn.0529-5807.2017.10.006.
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Impact of gross total resection in patients with WHO grade III glioma harboring the IDH 1/2 mutation without the 1p/19q co-deletion.IDH 1/2 突变且无 1p/19q 共缺失的 WHO Ⅲ级胶质瘤患者行全切除的影响
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A dual-genotype IDH-mutant infiltrating glioma, a real oligoastrocytoma in cerebral hemisphere.一种双基因型异柠檬酸脱氢酶（IDH）突变型浸润性胶质瘤，一种位于大脑半球的真性少突星形细胞瘤。
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Radiotherapy delays malignant transformation and prolongs survival in patients with IDH-mutant gliomas.放射治疗延迟 IDH 突变型脑胶质瘤患者的恶性转化并延长其生存时间。
Cancer Biol Med. 2022 Nov 1;19(10):1477-86. doi: 10.20892/j.issn.2095-3941.2022.0472.
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Arch Pathol Lab Med. 2022 May 1;146(5):547-574. doi: 10.5858/arpa.2021-0295-CP.
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Frequency of false-positive FISH 1p/19q codeletion in adult diffuse astrocytic gliomas.成人弥漫性星形细胞瘤中FISH 1p/19q共缺失假阳性的频率。
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A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features.具有组织学、分子、影像学和时间进程特征的双基因型少突-星形细胞瘤。
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本文引用的文献

1
IDH2 mutations are commonly associated with 1p/19q codeletion in diffuse adult gliomas.异柠檬酸脱氢酶2（IDH2）突变通常与弥漫性成人胶质瘤中的1p/19q共缺失相关。
Neuro Oncol. 2018 Apr 9;20(5):716-718. doi: 10.1093/neuonc/noy014.
2
cIMPACT-NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant.cIMPACT-NOW更新2：弥漫性中线胶质瘤、H3 K27M突变型以及弥漫性星形细胞瘤/间变性星形细胞瘤、IDH突变型的诊断澄清
Acta Neuropathol. 2018 Apr;135(4):639-642. doi: 10.1007/s00401-018-1826-y. Epub 2018 Mar 1.
3
cIMPACT-NOW update 1: Not Otherwise Specified (NOS) and Not Elsewhere Classified (NEC).cIMPACT-NOW更新1：未另作说明（NOS）和未在其他处分类（NEC）。
Acta Neuropathol. 2018 Mar;135(3):481-484. doi: 10.1007/s00401-018-1808-0. Epub 2018 Jan 25.
4
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.2016 年世界卫生组织中枢神经系统肿瘤分类：概述。
Acta Neuropathol. 2016 Jun;131(6):803-20. doi: 10.1007/s00401-016-1545-1. Epub 2016 May 9.
5
IDH mutation, 1p19q codeletion and ATRX loss in WHO grade II gliomas.世界卫生组织二级胶质瘤中的异柠檬酸脱氢酶（IDH）突变、1p19q共缺失和α-地中海贫血/智力发育障碍综合征X连锁基因（ATRX）缺失
Oncotarget. 2015 Oct 6;6(30):30295-305. doi: 10.18632/oncotarget.4497.
6
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors.基于肿瘤中1p/19q、异柠檬酸脱氢酶（IDH）和端粒酶逆转录酶（TERT）启动子突变的胶质瘤分组
N Engl J Med. 2015 Jun 25;372(26):2499-508. doi: 10.1056/NEJMoa1407279. Epub 2015 Jun 10.
7
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.弥漫性低级别胶质瘤的综合、整合基因组分析
N Engl J Med. 2015 Jun 25;372(26):2481-98. doi: 10.1056/NEJMoa1402121. Epub 2015 Jun 10.
8
Mixed glioma with molecular features of composite oligodendroglioma and astrocytoma: a true "oligoastrocytoma"?具有复合性少突胶质细胞瘤和星形细胞瘤分子特征的混合性胶质瘤：一种真正的“少突星形细胞瘤”？
Acta Neuropathol. 2015 Jan;129(1):151-3. doi: 10.1007/s00401-014-1359-y. Epub 2014 Oct 31.
9
Farewell to oligoastrocytoma: in situ molecular genetics favor classification as either oligodendroglioma or astrocytoma.告别少突星形细胞瘤：原位分子遗传学支持将其归类为少突胶质细胞瘤或星形细胞瘤。
Acta Neuropathol. 2014 Oct;128(4):551-9. doi: 10.1007/s00401-014-1326-7. Epub 2014 Aug 21.
10
A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation.位于 8q24.21 的低频变异与 IDH1 或 IDH2 突变的少突胶质细胞瘤和星形细胞瘤的风险强烈相关。
Nat Genet. 2012 Oct;44(10):1122-5. doi: 10.1038/ng.2388. Epub 2012 Aug 26.

Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.

作者信息

Zepeda-Mendoza Cinthya J, Vaubel Rachael A, Zarei Shabnam, Ida Cristiane M, Matthews Martin, Acree Sara, Raghunathan Aditya, Giannini Caterina, Jenkins Robert B

机构信息

Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Department of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA.

出版信息

Acta Neuropathol. 2020 Jun;139(6):1105-1107. doi: 10.1007/s00401-020-02141-x. Epub 2020 Mar 13.

DOI:10.1007/s00401-020-02141-x
PMID:32170402
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8336583/
Abstract
摘要