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[小儿软组织肿瘤：起源不明的肿瘤]

[Pediatric soft tissue tumors : Tumors of uncertain origin].

作者信息

Greimelmaier K, Vokuhl C

机构信息

Sektion Kinderpathologie, Institut für Pathologie, Universitätsklinikum Bonn, Bonn, Deutschland, Venusberg-Campus 1, 53127.

出版信息

Pathologie (Heidelb). 2024 Nov;45(6):412-421. doi: 10.1007/s00292-024-01356-z. Epub 2024 Oct 2.

DOI:10.1007/s00292-024-01356-z
PMID:39356331
Abstract

Soft tissue tumors of childhood are an extremely heterogeneous group of tumors that require precise diagnosis for therapy. In this article, selected tumors of uncertain origin that exhibit characteristic histological, immunophenotypical, and molecular features are addressed. Angiomatoid fibrous histiocytoma, alveolar soft part sarcoma, extrarenal rhabdoid tumor, synovial sarcoma, and desmoplastic small round cell tumor differ in their pathology, their clinical behavior, and prognosis.

摘要

儿童软组织肿瘤是一组极其异质性的肿瘤，治疗需要精确诊断。本文讨论了一些起源不明但具有特征性组织学、免疫表型和分子特征的肿瘤。血管周细胞瘤、腺泡状软组织肉瘤、肾外横纹肌样瘤、滑膜肉瘤和促纤维组织增生性小圆细胞肿瘤在病理、临床行为和预后方面存在差异。

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1
[Pediatric soft tissue tumors : Tumors of uncertain origin].[小儿软组织肿瘤：起源不明的肿瘤]
Pathologie (Heidelb). 2024 Nov;45(6):412-421. doi: 10.1007/s00292-024-01356-z. Epub 2024 Oct 2.
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J Pediatr Surg. 2000 Jun;35(6):948-53; discussion 953-4. doi: 10.1053/jpsu.2000.6934.
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本文引用的文献

1
When used together SS18-SSX fusion-specific and SSX C-terminus immunohistochemistry are highly specific and sensitive for the diagnosis of synovial sarcoma and can replace FISH or molecular testing in most cases.当 SS18-SSX 融合特异性和 SSX C 端免疫组化联合使用时，对滑膜肉瘤的诊断具有高度特异性和敏感性，在大多数情况下可以替代 FISH 或分子检测。
Histopathology. 2020 Oct;77(4):588-600. doi: 10.1111/his.14190. Epub 2020 Sep 12.
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Molecular Analysis of Gene Fusions in Bone and Soft Tissue Tumors by Anchored Multiplex PCR-Based Targeted Next-Generation Sequencing.基于锚定多重 PCR 的靶向下一代测序技术对骨和软组织肿瘤中基因融合的分子分析。
J Mol Diagn. 2018 Sep;20(5):653-663. doi: 10.1016/j.jmoldx.2018.05.007. Epub 2018 Aug 20.
3
Alveolar soft part sarcoma in children and young adults: A report of 69 cases.
儿童和青年成人生殖器透明细胞汗腺瘤临床病理观察
Pediatr Blood Cancer. 2018 May;65(5):e26953. doi: 10.1002/pbc.26953. Epub 2018 Jan 19.
4
Reclassification of rhabdoid tumor and pediatric undifferentiated/unclassified sarcoma with complete loss of SMARCB1/INI1 protein expression: three subtypes of rhabdoid tumor according to their histological features.横纹肌样肿瘤和伴有完全缺失 SMARCB1/INI1 蛋白表达的儿童未分化/未分类肉瘤的重新分类：根据组织学特征的三种横纹肌样肿瘤亚型。
Mod Pathol. 2016 Oct;29(10):1232-42. doi: 10.1038/modpathol.2016.106. Epub 2016 Jun 22.
5
Immunohistochemical staining for TLE1 distinguishes synovial sarcoma from histologic mimics.免疫组织化学染色 TLE1 可区分滑膜肉瘤与组织学模拟物。
Am J Clin Pathol. 2011 Jun;135(6):839-44. doi: 10.1309/AJCP45SSNAOPXYXU.
6
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.家族性和散发性横纹肌样瘤中 SMARCB1/INI1 突变谱。
Pediatr Blood Cancer. 2011 Jan;56(1):7-15. doi: 10.1002/pbc.22831.
7
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.胚系无义突变和体细胞失活的 SMARCA4/BRG1 在一个具有横纹肌瘤易感性综合征的家族中。
Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.
8
Comparing children and adults with synovial sarcoma in the Surveillance, Epidemiology, and End Results program, 1983 to 2005: an analysis of 1268 patients.1983年至2005年监测、流行病学和最终结果计划中儿童与成人滑膜肉瘤的比较：对1268例患者的分析
Cancer. 2009 Aug 1;115(15):3537-47. doi: 10.1002/cncr.24424.
9
EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma.血管样纤维组织细胞瘤中的EWSR1-CREB1和EWSR1-ATF1融合基因。
Clin Cancer Res. 2007 Dec 15;13(24):7322-8. doi: 10.1158/1078-0432.CCR-07-1744.
10
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma.EWSR1-CREB1是血管样纤维组织细胞瘤中主要的基因融合。
Genes Chromosomes Cancer. 2007 Dec;46(12):1051-60. doi: 10.1002/gcc.20491.