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Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10.

作者信息

Hirsch Steffen, Rahmanzade Ramin, Grund Kerstin, Sutter Christian, Schramm Kathrin, Selt Florian, Ecker Jonas, Jones Barbara C, Schrimpf Daniel, Demmert Martin, Guerreiro Stücklin Ana S, Hernaiz Driever Pablo, Mezger Markus, Brecht Ines, Adib Sasan D, Brummel Bastian, Sturm Dominik, Dikow Nicola, Hempel Maja, Milde Till, Pajtler Kristian, Jones David T W, Pfister Stefan M, von Deimling Andreas, Sahm Felix, Schaaf Christian P

机构信息

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Hopp Children's Cancer Center Heidelberg (KiTZ) and Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.

出版信息

Acta Neuropathol. 2025 Mar 14;149(1):25. doi: 10.1007/s00401-025-02865-8.

DOI:10.1007/s00401-025-02865-8
PMID:40085243
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11909084/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d77/11909084/1ba7309157e3/401_2025_2865_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d77/11909084/1ba7309157e3/401_2025_2865_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d77/11909084/1ba7309157e3/401_2025_2865_Fig1_HTML.jpg

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1
Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10.PTEN基因的胚系变异：在松果体区B型乳头状肿瘤（PTPR - B）患者中常见，与10号染色体孤立性缺失相关。
Acta Neuropathol. 2025 Mar 14;149(1):25. doi: 10.1007/s00401-025-02865-8.
2
PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report.PTEN R130Q 松果体区乳头状肿瘤（PTPR）伴 10 号染色体缺失，依维莫司治疗有效：一例报告。
Curr Oncol. 2021 Mar 20;28(2):1274-1279. doi: 10.3390/curroncol28020121.
3
PTEN mutations and activation of the PI3K/Akt/mTOR signaling pathway in papillary tumors of the pineal region.松果体区乳头状肿瘤中的PTEN突变与PI3K/Akt/mTOR信号通路的激活
J Neuropathol Exp Neurol. 2014 Aug;73(8):747-51. doi: 10.1097/NEN.0000000000000093.
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Papillary Tumor of the Pineal Region Identified by DNA Methylation Leads to the Incidental Finding of Germline Mutation Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Systematic Review.通过DNA甲基化鉴定的松果体区乳头状肿瘤导致偶然发现与PTEN错构瘤肿瘤综合征相关的种系突变：病例报告及系统评价
Curr Oncol. 2025 Mar 17;32(3):172. doi: 10.3390/curroncol32030172.
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Papillary tumor of the pineal region: Histopathological characterization and review of the literature.松果体区乳头状肿瘤：组织病理学特征及文献综述
Neurochirurgie. 2015 Apr-Jun;61(2-3):138-42. doi: 10.1016/j.neuchi.2013.04.011. Epub 2014 Feb 18.
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Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region.细胞核CRX和FOXJ1表达可区分非生殖细胞松果体区肿瘤，并支持松果体区乳头状肿瘤的室管膜分化。
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Papillary tumor of the pineal region: analysis of DNA methylation profiles and clinical outcomes in 76 cases.松果体区乳头状肿瘤：76例DNA甲基化谱分析及临床结果
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Papillary tumors of the pineal region: case report.松果体区乳头状肿瘤：病例报告。
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Cytologic features of papillary tumor of the pineal region: A case report showing tigroid background.松果体区乳头状肿瘤的细胞学特征：一例显示虎斑状背景的病例报告。
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本文引用的文献

1
Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group.PTEN错构瘤综合征的癌症与过度生长表现：国际PHTS共识指南工作组的管理建议
Clin Cancer Res. 2025 May 1;31(9):1754-1765. doi: 10.1158/1078-0432.CCR-24-3819.
2
Papillary tumor of the pineal region: analysis of DNA methylation profiles and clinical outcomes in 76 cases.松果体区乳头状肿瘤：76例DNA甲基化谱分析及临床结果
Acta Neuropathol Commun. 2024 Jul 16;12(1):117. doi: 10.1186/s40478-024-01781-4.
3
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
多组学生物标志物神经病理学提高儿科神经肿瘤学的诊断准确性。
Nat Med. 2023 Apr;29(4):917-926. doi: 10.1038/s41591-023-02255-1. Epub 2023 Mar 16.
4
Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry.分子诊断可检测到可操作的靶点：儿科靶向治疗 2.0 注册中心。
Eur J Cancer. 2023 Feb;180:71-84. doi: 10.1016/j.ejca.2022.11.015. Epub 2022 Nov 25.
5
Coexisting lipomatous meningioma and glioblastoma in Cowden syndrome: A unique tumor association.考登综合征中并存的脂肪瘤性脑膜瘤和胶质母细胞瘤：一种独特的肿瘤关联。
Neuropathology. 2023 Feb;43(1):110-116. doi: 10.1111/neup.12858. Epub 2022 Aug 24.
6
The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets.儿科精准肿瘤学 INFORM 登记处：高证据靶点患者的临床结局和获益。
Cancer Discov. 2021 Nov;11(11):2764-2779. doi: 10.1158/2159-8290.CD-21-0094. Epub 2021 Aug 9.
7
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.2021 年世卫组织中枢神经系统肿瘤分类：概述。
Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106.
8
PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report.PTEN R130Q 松果体区乳头状肿瘤（PTPR）伴 10 号染色体缺失，依维莫司治疗有效：一例报告。
Curr Oncol. 2021 Mar 20;28(2):1274-1279. doi: 10.3390/curroncol28020121.
9
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.PTEN 错构瘤肿瘤综合征患者的癌症监测指南。
Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12.
10
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.松果体实质肿瘤的分子亚群分析揭示了与临床参数和遗传改变相关的不同亚型。
Acta Neuropathol. 2020 Feb;139(2):243-257. doi: 10.1007/s00401-019-02101-0. Epub 2019 Nov 25.