Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.
作者信息
Lee Julieann C, Mazor Tali, Lao Richard, Wan Eunice, Diallo Alpha B, Hill Nicholas S, Thangaraj Naina, Wendelsdorf Katherine, Samuel David, Kline Cassie N, Banerjee Anuradha, Auguste Kurtis, Raffel Corey, Gupta Nalin, Berger Mitchel, Raleigh David R, Shai Anny, Phillips Joanna J, Bollen Andrew W, Tihan Tarik, Perry Arie, Costello Joseph, Solomon David A
机构信息
Division of Neuropathology, Department of Pathology, University of California, San Francisco, CA, USA.
Department of Neurological Surgery, University of California, San Francisco, CA, USA.
出版信息
Acta Neuropathol. 2019 May;137(5):851-854. doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14.
Abstract
摘要
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Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.复发性KBTBD4小框内插入以及不存在DROSHA缺失或DICER1突变可将中间分化型松果体实质肿瘤（PPTID）与松果体母细胞瘤区分开来。
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本文引用的文献
1
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Nat Commun. 2018 Jul 20;9(1):2868. doi: 10.1038/s41467-018-05029-3.
2
The whole-genome landscape of medulloblastoma subtypes.髓母细胞瘤亚型的全基因组图谱。
Nature. 2017 Jul 19;547(7663):311-317. doi: 10.1038/nature22973.
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Histopathologic review of pineal parenchymal tumors identifies novel morphologic subtypes and prognostic factors for outcome.松果体实质肿瘤的组织病理学检查发现了新的形态学亚型和预后相关因素。
Neuro Oncol. 2017 Jan;19(1):78-88. doi: 10.1093/neuonc/now105. Epub 2016 Jun 9.
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Germ-line and somatic DICER1 mutations in pineoblastoma.松果体母细胞瘤中的种系和体细胞DICER1突变
Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15.
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Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases.Cul3 蛋白与 BTB-Kelch 家族 E3 泛素连接酶组装的结构基础。
J Biol Chem. 2013 Mar 15;288(11):7803-7814. doi: 10.1074/jbc.M112.437996. Epub 2013 Jan 24.
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Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma.松果体母细胞瘤中的种系DICER1突变及相关杂合性缺失
J Med Genet. 2012 Jul;49(7):417-9. doi: 10.1136/jmedgenet-2012-100898. Epub 2012 Jun 20.
7
Parenchymal pineal tumors: a clinicopathological study of 76 cases.松果体实质肿瘤：76例临床病理研究
Int J Radiat Oncol Biol Phys. 2000 Mar 1;46(4):959-68. doi: 10.1016/s0360-3016(99)00389-2.
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