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Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

作者信息

de Kock Leanne, Rivera Barbara, Foulkes William D

机构信息

Harry Perkins Institute of Medical Research, QEII Medical Centre, Centre for Medical Research, University of Western Australia, Perth, WA, Australia.

Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Acta Neuropathol. 2020 Jun;139(6):1115-1118. doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2.

DOI:10.1007/s00401-020-02139-5
PMID:32124011
Abstract
摘要

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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.
2
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。
Acta Neuropathol. 2019 May;137(5):851-854. doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14.
3
Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.原发性颅内肉瘤，DICER1 突变，表现为酷似松果体母细胞瘤的松果体区肿瘤：病例报告及文献复习
J Neuropathol Exp Neurol. 2022 Aug 16;81(9):762-764. doi: 10.1093/jnen/nlac053.
4
Pineal Parenchymal Tumor of Intermediate Differentiation and DICER1 Syndrome: A Case Report.松果体实质肿瘤中分化合并 DICER1 综合征：病例报告。
J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e406-e409. doi: 10.1097/MPH.0000000000002518. Epub 2022 Aug 30.
5
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.
6
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.
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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
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Histopathology and molecular pathology of pediatric pineal parenchymal tumors.小儿松果体实质肿瘤的组织病理学和分子病理学。
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Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.松果体母细胞瘤的风险适应治疗和生物学异质性：来自前瞻性、多中心 SJMB03 和 SJYC07 试验的综合临床病理分析。
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An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.增殖与分化之间的失衡是微小RNA缺陷型松果体母细胞瘤发生发展的基础。
Genes Dev. 2025 Apr 16. doi: 10.1101/gad.352485.124.
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Recent Advances in Pineoblastoma Research: Molecular Classification, Modelling and Targetable Vulnerabilities.松果体母细胞瘤研究的最新进展：分子分类、建模与可靶向的脆弱性
Cancers (Basel). 2025 Feb 20;17(5):720. doi: 10.3390/cancers17050720.
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Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

本文引用的文献

1
Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.《松果体母细胞瘤可分为具有不同临床病理特征的分子亚群：罕见脑瘤联盟登记研究》。
Acta Neuropathol. 2020 Feb;139(2):223-241. doi: 10.1007/s00401-019-02111-y. Epub 2019 Dec 9.
2
Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.松果体母细胞瘤的风险适应治疗和生物学异质性：来自前瞻性、多中心 SJMB03 和 SJYC07 试验的综合临床病理分析。
Acta Neuropathol. 2020 Feb;139(2):259-271. doi: 10.1007/s00401-019-02106-9. Epub 2019 Dec 4.
3
生殖系致病性DROSHA变异与松果体母细胞瘤和肾母细胞瘤易感性相关。
Clin Cancer Res. 2025 Apr 14;31(8):1491-1503. doi: 10.1158/1078-0432.CCR-24-2785.
4
An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.增殖与分化之间的失衡是微小RNA缺陷型松果体母细胞瘤发生发展的基础。
bioRxiv. 2024 Oct 22:2024.04.23.590638. doi: 10.1101/2024.04.23.590638.
5
Unraveling the Significance of DGCR8 and miRNAs in Thyroid Carcinoma.解析 DGCR8 和 miRNA 在甲状腺癌中的作用。
Cells. 2024 Mar 22;13(7):561. doi: 10.3390/cells13070561.
6
A temporal in vivo catalog of chromatin accessibility and expression profiles in pineoblastoma reveals a prevalent role for repressor elements.松果体母细胞瘤染色质可及性和表达谱的时间分辨体内目录揭示了抑制元件的普遍作用。
Genome Res. 2023 Feb;33(2):269-282. doi: 10.1101/gr.277037.122. Epub 2023 Jan 17.
7
Histopathology and molecular pathology of pediatric pineal parenchymal tumors.小儿松果体实质肿瘤的组织病理学和分子病理学。
Childs Nerv Syst. 2023 Sep;39(9):2273-2284. doi: 10.1007/s00381-022-05637-x. Epub 2022 Aug 16.
8
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。
Brain Tumor Pathol. 2022 Jul;39(3):130-138. doi: 10.1007/s10014-021-00421-2. Epub 2022 Jan 9.
9
DGCR8 and the six hit, three-step model of schwannomatosis.DGCR8与神经鞘瘤病的六次打击、三步模型
Acta Neuropathol. 2022 Jan;143(1):115-117. doi: 10.1007/s00401-021-02387-z. Epub 2021 Nov 25.
10
The Role of MicroRNAs in Therapeutic Resistance of Malignant Primary Brain Tumors.微小RNA在恶性原发性脑肿瘤治疗耐药中的作用
Front Cell Dev Biol. 2021 Oct 7;9:740303. doi: 10.3389/fcell.2021.740303. eCollection 2021.
Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".
两例原发性幕上颅内横纹肌肉瘤伴 DICER1 突变，可能属于“具有横纹肌肉瘤样特征的梭形细胞肉瘤，DICER1 突变型”。
Brain Tumor Pathol. 2019 Oct;36(4):174-182. doi: 10.1007/s10014-019-00352-z. Epub 2019 Sep 5.
4
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.DICER1 突变十年：来源、分布及相关表型。
Hum Mutat. 2019 Nov;40(11):1939-1953. doi: 10.1002/humu.23877. Epub 2019 Aug 17.
5
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。
Acta Neuropathol. 2019 May;137(5):851-854. doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14.
6
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.家族性肾母细胞瘤中种系DICER1突变的鉴定及杂合性缺失
J Med Genet. 2016 Jun;53(6):385-8. doi: 10.1136/jmedgenet-2015-103311. Epub 2015 Nov 13.
7
Subclonal diversification of primary breast cancer revealed by multiregion sequencing.多区域测序揭示原发性乳腺癌的亚克隆多样性
Nat Med. 2015 Jul;21(7):751-9. doi: 10.1038/nm.3886. Epub 2015 Jun 22.
8
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.
9
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.胸膜肺母细胞瘤的外显子组测序显示，TP53频繁发生双等位基因缺失，且DICER1出现两次突变，导致5p衍生的微小RNA发夹环序列保留。
Oncogene. 2014 Nov 6;33(45):5295-302. doi: 10.1038/onc.2014.150. Epub 2014 Jun 9.
10
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.