• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

涉及非中枢神经系统实体儿科肿瘤的儿科癌症易感综合征：以组织病理学为重点的临床表现综述

Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.

作者信息

Schurink B, Reyes-Múgica M, de Krijger R R

机构信息

Department of Pathology, Amsterdam University Medical Centers, Location VUmc. De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

Princess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.

出版信息

Virchows Arch. 2025 Jan;486(1):3-21. doi: 10.1007/s00428-025-04029-1. Epub 2025 Jan 23.

DOI:10.1007/s00428-025-04029-1
PMID:39847050
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11782299/
Abstract

Germline genetic alterations and their associated cancer predisposition syndromes (CPS) are an important cause of pediatric cancer. Early recognition is of great importance for targeted surveillance, early detection, and prompt (personalized) therapeutic interventions. This review provides an overview of non-central nervous system solid pediatric tumor types, in relation to their associated CPS, with an emphasis on their histology. It serves as a guide for (pediatric) pathologists to increase their awareness of histological clues that suggest a CPS and warrant referral to the clinical geneticist.

摘要

种系基因改变及其相关的癌症易感性综合征（CPS）是儿童癌症的一个重要原因。早期识别对于靶向监测、早期检测和及时（个性化）治疗干预至关重要。本综述概述了与相关CPS有关的非中枢神经系统实体小儿肿瘤类型，重点是其组织学。它可作为（儿科）病理学家的指南，以提高他们对提示CPS并需要转诊给临床遗传学家的组织学线索的认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/78a2eda26069/428_2025_4029_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/73f18d37cd2e/428_2025_4029_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/13adad2071d0/428_2025_4029_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/dcf21ae5c506/428_2025_4029_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/d56c367dc2bb/428_2025_4029_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/633d535cc80e/428_2025_4029_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/78a2eda26069/428_2025_4029_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/73f18d37cd2e/428_2025_4029_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/13adad2071d0/428_2025_4029_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/dcf21ae5c506/428_2025_4029_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/d56c367dc2bb/428_2025_4029_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/633d535cc80e/428_2025_4029_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/138e/11782299/78a2eda26069/428_2025_4029_Fig6_HTML.jpg

相似文献

1
Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.涉及非中枢神经系统实体儿科肿瘤的儿科癌症易感综合征：以组织病理学为重点的临床表现综述
Virchows Arch. 2025 Jan;486(1):3-21. doi: 10.1007/s00428-025-04029-1. Epub 2025 Jan 23.
2
Nervous system (NS) Tumors in Cancer Predisposition Syndromes.神经系统肿瘤与癌症易感综合征。
Neurotherapeutics. 2022 Oct;19(6):1752-1771. doi: 10.1007/s13311-022-01277-w. Epub 2022 Sep 2.
3
Morphological clues to the appropriate recognition of hereditary renal neoplasms.遗传性肾肿瘤正确识别的形态学线索
Semin Diagn Pathol. 2018 May;35(3):184-192. doi: 10.1053/j.semdp.2018.01.005. Epub 2018 Feb 14.
4
Assessment of cancer predisposition syndromes in children with leukemia and solid tumors: germline-genomic profiling and clinical features in a series of cases.评估白血病和实体瘤患儿的癌症易感性综合征：一系列病例中的种系基因组分析和临床特征。
Pediatr Hematol Oncol. 2024 Nov;41(8):620-632. doi: 10.1080/08880018.2024.2411321. Epub 2024 Oct 12.
5
Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee.儿科实体肿瘤及相关癌前综合征：评估、治疗和监测。APSA 癌症委员会总结。
J Pediatr Surg. 2022 Mar;57(3):430-442. doi: 10.1016/j.jpedsurg.2021.08.008. Epub 2021 Aug 24.
6
Uncovering Hereditary Tumor Syndromes: Emerging Role of Surgical Pathology.揭示遗传性肿瘤综合征：外科病理学的新兴作用
Semin Diagn Pathol. 2018 May;35(3):154-160. doi: 10.1053/j.semdp.2018.01.001. Epub 2018 Feb 1.
7
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.癌症易感性综合征的最新进展及儿童脑肿瘤监测指南。
Clin Cancer Res. 2024 Jun 3;30(11):2342-2350. doi: 10.1158/1078-0432.CCR-23-4033.
8
[Hereditary predisposition to tumors of the central and peripheral nervous systems].[中枢和周围神经系统肿瘤的遗传易感性]
Ann Pathol. 2020 Apr;40(2):168-179. doi: 10.1016/j.annpat.2020.02.019. Epub 2020 Mar 17.
9
Polygenic early-onset colorectal cancer in pediatric patients.儿童多基因早发性结直肠癌。
Pediatr Blood Cancer. 2022 Oct;69(10):e29790. doi: 10.1002/pbc.29790. Epub 2022 Jun 7.
10
Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation.罕见的遗传性妇科肿瘤综合征：肿瘤的病理学特征可能预示着种系突变的风险。
Pathology. 2018 Feb;50(2):238-256. doi: 10.1016/j.pathol.2017.10.009. Epub 2018 Jan 17.

本文引用的文献

1
SS18-SSX Expression and Clinicopathologic Profiles in a Contemporary Cohort of Primary Paratesticular Synovial Sarcoma: A Series of Fourteen Patients.当代原发性睾丸旁滑膜肉瘤队列中SS18 - SSX的表达及临床病理特征：14例患者系列研究
Am J Surg Pathol. 2025 Jan 1;49(1):11-19. doi: 10.1097/PAS.0000000000002323. Epub 2024 Oct 25.
2
Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor.隐匿于表象之下：影像学和病理学检查结果可在肾母细胞瘤患者中发现 Beckwith-Wiedemann 综合征。
J Pediatr Hematol Oncol. 2024 Nov 1;46(8):424-428. doi: 10.1097/MPH.0000000000002951. Epub 2024 Oct 14.
3
Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.
葡萄簇样胚胎性横纹肌肉瘤：与传统型对应肿瘤进行交叉比较的全面临床病理及分子评估
Am J Surg Pathol. 2024 Dec 1;48(12):1557-1567. doi: 10.1097/PAS.0000000000002300. Epub 2024 Aug 30.
4
Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population.颅外生殖细胞瘤患儿的非综合征性和综合征性缺陷：与普通人群相比，德国MAKEI 96/MAHO 98登记处登记的2610名儿童的数据
Cancers (Basel). 2024 Jun 6;16(11):2157. doi: 10.3390/cancers16112157.
5
Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution.儿童卵巢 Sertoli-Leydig 细胞瘤：单中心临床病理特征、泛癌靶向二代测序和染色体微阵列分析的综合研究。
Am J Surg Pathol. 2024 Feb 1;48(2):194-203. doi: 10.1097/PAS.0000000000002149. Epub 2023 Nov 10.
6
TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.间变性横纹肌肉瘤中TP53种系致病变异频率：儿童肿瘤学组报告
Pediatr Blood Cancer. 2023 May 17:e30413. doi: 10.1002/pbc.30413.
7
Primary lung cancer in children and adolescents: Analysis of a surveillance, epidemiology, and end results database.儿童和青少年原发性肺癌：监测、流行病学和最终结果数据库分析
Front Oncol. 2023 Apr 5;13:1053248. doi: 10.3389/fonc.2023.1053248. eCollection 2023.
8
Thyroid pathology, a clue to PTEN hamartoma tumor syndrome.甲状腺病理学：PTEN错构瘤肿瘤综合征的一个线索
J Pathol Transl Med. 2023 May;57(3):178-183. doi: 10.4132/jptm.2023.03.04. Epub 2023 Mar 30.
9
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.从体细胞肿瘤检测中鉴定儿科肉瘤患者的种系癌症易感性变异。
Sci Rep. 2023 Feb 20;13(1):2959. doi: 10.1038/s41598-023-29982-2.
10
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.评估全国性肿瘤患儿中癌症易感性综合征。
JAMA Netw Open. 2023 Feb 1;6(2):e2254157. doi: 10.1001/jamanetworkopen.2022.54157.