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[实体儿科肿瘤:稀有病例简览]

[Solid pediatric tumors : A brief survey of the rarity cabinet].

作者信息

Gürtl-Lackner B, Gisselsson-Nord D, Vujanic G

机构信息

Institut für Pathologie, Labmedicin Skåne, Sölvegatan 25, Lund, Schweden.

Institut für Pathologie, Medizinische Universität Graz, Graz, Österreich.

出版信息

Pathologe. 2017 Jul;38(4):278-285. doi: 10.1007/s00292-017-0312-y.

DOI:10.1007/s00292-017-0312-y
PMID:28643124
Abstract

Solid tumors in childhood are extremely rare entities, which are usually treated in specialized centers. Diagnosis and therapy are carried out according to a joint European protocol, whereby the pathological evaluation and therapy are carried out according to international guidelines. For the correct diagnosis and/or therapy of most tumors, analysis of specific genetic changes is mandatory; therefore, tumors have to be adequately sampled for parallel genetic analysis during the pathological work-up. A second opinion reference of the histopathological assessment is part of the international guidelines. Neuroblastomas, congenital mesoblastic nephromas and rhabdoid tumors are examples of solid tumors in childhood that are not restricted to one organ and occur exclusively during childhood.

摘要

儿童实体瘤极为罕见,通常在专科中心接受治疗。诊断和治疗按照欧洲联合方案进行,病理评估和治疗依据国际指南开展。对于大多数肿瘤的正确诊断和/或治疗,特定基因变化的分析必不可少;因此,在病理检查过程中,必须对肿瘤进行充分取样以并行基因分析。组织病理学评估的二次意见参考是国际指南的一部分。神经母细胞瘤、先天性中胚层肾瘤和横纹肌样瘤是儿童实体瘤的例子,这些肿瘤不限于一个器官,且仅在儿童期出现。

相似文献

1
[Solid pediatric tumors : A brief survey of the rarity cabinet].[实体儿科肿瘤:稀有病例简览]
Pathologe. 2017 Jul;38(4):278-285. doi: 10.1007/s00292-017-0312-y.
2
Pediatric Renal Tumors: Updates in the Molecular Era.小儿肾肿瘤:分子时代的新进展。
Surg Pathol Clin. 2020 Dec;13(4):695-718. doi: 10.1016/j.path.2020.08.003. Epub 2020 Oct 9.
3
[Rare childhood kidney tumors].[罕见的儿童肾肿瘤]
Pathologe. 2019 Nov;40(6):600-608. doi: 10.1007/s00292-019-0638-8.
4
Pediatric renal tumors.小儿肾肿瘤
Semin Surg Oncol. 1999 Mar;16(2):105-20. doi: 10.1002/(sici)1098-2388(199903)16:2<105::aid-ssu4>3.0.co;2-t.
5
Current Management of Fetal and Neonatal Renal Tumors.胎儿及新生儿肾肿瘤的当前管理
Curr Pediatr Rev. 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403.
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Neonatal renal tumours.新生儿肾肿瘤。
Early Hum Dev. 2010 Oct;86(10):607-12. doi: 10.1016/j.earlhumdev.2010.08.018.
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Renal Tumors of Childhood: Radiologic-Pathologic Correlation Part 1. The 1st Decade: From the Radiologic Pathology Archives.儿童肾肿瘤:放射病理相关性第 1 部分。第 1 个 10 年:来自放射病理学档案。
Radiographics. 2016 Mar-Apr;36(2):499-522. doi: 10.1148/rg.2016150230.
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Pathology and diagnosis of SMARCB1-deficient tumors.SMARCB1 缺陷型肿瘤的病理学与诊断
Cancer Genet. 2014 Sep;207(9):358-64. doi: 10.1016/j.cancergen.2014.07.004. Epub 2014 Aug 1.
9
[Radiologic differentiation of rhabdoid tumor from Wilms' tumor and mesoblastic nephroma].横纹肌肉瘤与肾母细胞瘤及中胚叶肾瘤的影像学鉴别诊断
Urologe A. 2005 Feb;44(2):155-61. doi: 10.1007/s00120-004-0751-y.
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High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.横纹肌肉瘤中存在高频率的 SMARCB1 结构异常,包括镶嵌现象。
Eur J Hum Genet. 2020 Aug;28(8):1124-1128. doi: 10.1038/s41431-020-0614-z. Epub 2020 Mar 26.

本文引用的文献

1
Congenital mesoblastic nephroma 50 years after its recognition: A narrative review.先天性中胚层肾瘤被发现50年后:一篇叙述性综述。
Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26437. Epub 2017 Jan 26.
2
Recommendations for the standardization of bone marrow disease assessment and reporting in children with neuroblastoma on behalf of the International Neuroblastoma Response Criteria Bone Marrow Working Group.代表国际神经母细胞瘤反应标准骨髓工作组提出的关于神经母细胞瘤患儿骨髓疾病评估与报告标准化的建议。
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3
All things rhabdoid and SMARC: An enigmatic exploration with Dr. Louis P. Dehner.
所有横纹肌样和SMARC相关的事物:与路易斯·P·德纳尔博士的神秘探索
Semin Diagn Pathol. 2016 Nov;33(6):427-440. doi: 10.1053/j.semdp.2016.08.003. Epub 2016 Aug 31.
4
Correlation between the International Neuroblastoma Pathology Classification and genomic signature in neuroblastoma.国际神经母细胞瘤病理分类与神经母细胞瘤基因组特征之间的相关性
Cancer Sci. 2015 Jun;106(6):766-771. doi: 10.1111/cas.12665. Epub 2015 Apr 22.
5
The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity.SMARCB1(INI1)缺陷性肿瘤的扩展家族:表型、生物学和分子异质性的影响
Adv Anat Pathol. 2014 Nov;21(6):394-410. doi: 10.1097/PAP.0000000000000038.
6
SWI/SNF chromatin remodeling complexes and cancer.SWI/SNF染色质重塑复合物与癌症
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):350-66. doi: 10.1002/ajmg.c.31410. Epub 2014 Aug 28.
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Striking dichotomy in outcome of MYCN-amplified neuroblastoma in the contemporary era.当代MYCN扩增神经母细胞瘤预后的显著二分法。
Cancer. 2014 Jul 1;120(13):2050-9. doi: 10.1002/cncr.28687. Epub 2014 Apr 1.
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Neuroblastoma and MYCN.神经母细胞瘤与 MYCN
Cold Spring Harb Perspect Med. 2013 Oct 1;3(10):a014415. doi: 10.1101/cshperspect.a014415.
9
Peripheral neuroblastic tumors with genotype-phenotype discordance: a report from the Children's Oncology Group and the International Neuroblastoma Pathology Committee.外周神经母细胞瘤基因型-表型不一致:来自儿童肿瘤学组和国际神经母细胞瘤病理学委员会的报告。
Pediatr Blood Cancer. 2013 Mar;60(3):363-70. doi: 10.1002/pbc.24238. Epub 2012 Jun 28.
10
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.在具有保留的 SMARCB1(INI1)表达的非典型畸胎瘤/横纹肌样瘤中存在 SMARCA4(BRG1)的无意义突变和失活。
Am J Surg Pathol. 2011 Jun;35(6):933-5. doi: 10.1097/PAS.0b013e3182196a39.