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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.

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.

DOI:10.1007/s00401-019-01990-5
PMID:30877433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6483828/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b21/6483828/b17e1a704276/nihms-1524162-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b21/6483828/b17e1a704276/nihms-1524162-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b21/6483828/b17e1a704276/nihms-1524162-f0001.jpg

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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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2
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Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.松果体母细胞瘤对DICER1、DROSHA或DGCR8的相互排斥性缺失具有独特的耐受性。
Acta Neuropathol. 2020 Jun;139(6):1115-1118. doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2.
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Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.增殖标志物指数和 KBTBD4 突变在松果体实质肿瘤病理诊断中的作用。
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Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.松果体母细胞瘤中 DROSHA 的反复纯合缺失和 PDE4DIP 的微重复。
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本文引用的文献

1
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.松果体母细胞瘤中 DROSHA 的反复纯合缺失和 PDE4DIP 的微重复。
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.
3
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。
UM171与新形态癌症突变体的结构模拟利用E3连接酶KBTBD4招募HDAC1/2。
Nat Commun. 2025 Apr 2;16(1):3144. doi: 10.1038/s41467-025-58350-z.
4
Converging mechanism of UM171 and KBTBD4 neomorphic cancer mutations.UM171与KBTBD4新形态癌症突变的汇聚机制
Nature. 2025 Mar;639(8053):241-249. doi: 10.1038/s41586-024-08533-3. Epub 2025 Feb 12.
5
SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors.SNO-EANO-EURACAN关于松果体实质肿瘤管理的共识
Neuro Oncol. 2024 Dec 5;26(12):2159-2173. doi: 10.1093/neuonc/noae128.
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Spinal Dissemination of Pineal Parenchymal Tumors of Intermediate Differentiation Over 10 Years After Initial Treatment: A Case Report.松果体实质中等分化肿瘤初始治疗10年后的脊髓播散：一例报告
Cureus. 2024 Mar 28;16(3):e57147. doi: 10.7759/cureus.57147. eCollection 2024 Mar.
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Understanding and Managing Pineal Parenchymal Tumors of Intermediate Differentiation: An In-Depth Exploration from Pathology to Adjuvant Therapies.理解与管理中间分化型松果体实质肿瘤：从病理学到辅助治疗的深入探索
J Clin Med. 2024 Feb 23;13(5):1266. doi: 10.3390/jcm13051266.
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Acta Neuropathol. 2023 Dec;146(6):853-856. doi: 10.1007/s00401-023-02638-1. Epub 2023 Sep 30.
Neuro Oncol. 2017 Jan;19(1):78-88. doi: 10.1093/neuonc/now105. Epub 2016 Jun 9.
4
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
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