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一例进行性弥漫性脑桥内胶质瘤及同步转移灶的组织学和分子分析:病例报告

Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report.

作者信息

Nazarian Javad, Mason Gary E, Ho Cheng Ying, Panditharatna Eshini, Kambhampati Madhuri, Vezina L Gilbert, Packer Roger J, Hwang Eugene I

机构信息

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.

Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

出版信息

Oncotarget. 2016 Jul 5;7(27):42837-42842. doi: 10.18632/oncotarget.10034.

DOI:10.18632/oncotarget.10034
PMID:27329600
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5173175/
Abstract

There is no curative treatment for patients with diffuse intrinsic pontine glioma (DIPG). However, with the recent availability of biopsy and autopsy tissue, new data regarding the biologic behavior of this tumor have emerged, allowing greater molecular characterization and leading to investigations which may result in improved therapeutic options. Treatment strategies must address both primary disease sites as well as any metastatic deposits, which may be variably sensitive to a particular approach.In this case report, we present a patient with DIPG treated with irradiation and serial investigational agents. The clinical, pathological and molecular phenotypes of both the progressive primary tumor as well as concomitant metastatic deposits obtained at autopsy are discussed. While some mRNA differences were demonstrated, all analyzed sites of disease shared similar mutational arrangements, suggesting that targeting the mutations of the primary tumor may be effective for all sites of disease.

摘要

弥漫性脑桥内生型胶质瘤(DIPG)患者尚无治愈性治疗方法。然而,随着近期活检和尸检组织的可得性,有关该肿瘤生物学行为的新数据不断涌现,使得能够进行更深入的分子特征分析,并引发了可能带来更好治疗选择的研究。治疗策略必须兼顾原发性疾病部位以及任何转移性病灶,这些病灶对特定治疗方法的敏感性可能各不相同。在本病例报告中,我们展示了一名接受放疗和系列研究性药物治疗的DIPG患者。讨论了进行性原发性肿瘤以及尸检时获得的伴随转移性病灶的临床、病理和分子表型。虽然显示出一些mRNA差异,但所有分析的疾病部位都具有相似的突变排列,这表明针对原发性肿瘤的突变进行治疗可能对所有疾病部位都有效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/c3a842750a93/oncotarget-07-42837-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/8464caf33b3e/oncotarget-07-42837-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/95a5dc16cde0/oncotarget-07-42837-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/c3a842750a93/oncotarget-07-42837-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/8464caf33b3e/oncotarget-07-42837-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/95a5dc16cde0/oncotarget-07-42837-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5142/5173175/c3a842750a93/oncotarget-07-42837-g003.jpg

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本文引用的文献

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Acta Neuropathol. 2014 Oct;128(4):573-81. doi: 10.1007/s00401-014-1319-6. Epub 2014 Jul 22.
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Subventricular spread of diffuse intrinsic pontine glioma.弥漫性脑桥内生型胶质瘤的脑室下扩散
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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
免疫监测方法的重要性以及免疫检查点在弥漫性内生性桥脑胶质瘤治疗中的应用:从基础到临床及反之亦然(综述)。
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Shared ACVR1 mutations in FOP and DIPG: Opportunities and challenges in extending biological and clinical implications across rare diseases.成纤维细胞生长因子受体 1 相关的先天性多灶性骨软骨发育不良和弥漫内生型脑桥胶质瘤中共享的突变:在拓展生物和临床意义的过程中横跨罕见疾病所面临的机遇与挑战。
Bone. 2018 Apr;109:91-100. doi: 10.1016/j.bone.2017.08.001. Epub 2017 Aug 2.
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Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26416. Epub 2017 Jan 13.
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