尤因肉瘤的分子分析：另一种可用于诊断的融合基因——EWS-E1AF
Molecular analysis of Ewing's sarcoma: another fusion gene, EWS-E1AF, available for diagnosis.
作者信息
Urano F, Umezawa A, Yabe H, Hong W, Yoshida K, Fujinaga K, Hata J
机构信息
Department of Pathology, Keio University School of Medicine, Tokyo.
出版信息
Jpn J Cancer Res. 1998 Jul;89(7):703-11. doi: 10.1111/j.1349-7006.1998.tb03274.x.
Abstract
Ewing's sarcoma, one of the most malignant tumors of children and young adults, expresses specific chimeric genes, e.g. EWS-FLI-1, EWS-ERG, EWS-ETV1 and EWS-FEV. In this paper, we extensively characterized a new fusion gene, EWS-EIAF by means of whole cDNA sequencing, RNA blot analysis, DNA blot analysis and chromosomal analysis, and showed it to be available for the diagnosis of Ewing's sarcoma and to participate in the oncogenesis of Ewing's sarcoma. Furthermore, we conducted a genetic analysis of Ewing family tumors in conjunction with immunohistochemical analysis and ultrastructural analysis. Our results demonstrate some limitations of both genetic analysis and histopathological analysis, and establish the relationship between neurogenic phenotypes and chimera genes.
摘要
尤因肉瘤是儿童和青年中最恶性的肿瘤之一，它表达特定的嵌合基因，例如EWS-FLI-1、EWS-ERG、EWS-ETV1和EWS-FEV。在本文中，我们通过全cDNA测序、RNA印迹分析、DNA印迹分析和染色体分析对一种新的融合基因EWS-EIAF进行了广泛的表征，并表明它可用于尤因肉瘤的诊断并参与尤因肉瘤的肿瘤发生。此外，我们结合免疫组织化学分析和超微结构分析对尤因家族性肿瘤进行了遗传分析。我们的结果显示了遗传分析和组织病理学分析的一些局限性，并建立了神经源性表型与嵌合基因之间的关系。
相似文献
1
Molecular analysis of Ewing's sarcoma: another fusion gene, EWS-E1AF, available for diagnosis.尤因肉瘤的分子分析：另一种可用于诊断的融合基因——EWS-E1AF
Jpn J Cancer Res. 1998 Jul;89(7):703-11. doi: 10.1111/j.1349-7006.1998.tb03274.x.
2
A novel chimera gene between EWS and E1A-F, encoding the adenovirus E1A enhancer-binding protein, in extraosseous Ewing's sarcoma.在骨外尤文肉瘤中，一种EWS与E1A-F之间的新型嵌合基因，该基因编码腺病毒E1A增强子结合蛋白。
Biochem Biophys Res Commun. 1996 Feb 15;219(2):608-12. doi: 10.1006/bbrc.1996.0281.
3
Expression of EWS-ETS fusions in NIH3T3 cells reveals significant differences to Ewing's sarcoma.EWS-ETS融合蛋白在NIH3T3细胞中的表达显示出与尤因肉瘤的显著差异。
Cell Cycle. 2006 Dec;5(23):2753-9. doi: 10.4161/cc.5.23.3505. Epub 2006 Dec 1.
4
Promiscuous partnerships in Ewing's sarcoma.尤因肉瘤中的混杂伙伴关系。
Cancer Genet. 2011 Jul;204(7):351-65. doi: 10.1016/j.cancergen.2011.07.008.
5
Fusion of an ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy.在婴儿未分化肉瘤中，通过t(17;22)(q12;q12)染色体易位，ETS家族基因EIAF与EWS融合。
Genes Chromosomes Cancer. 1996 Feb;15(2):115-21. doi: 10.1002/(SICI)1098-2264(199602)15:2<115::AID-GCC6>3.0.CO;2-6.
6
A new member of the ETS family fused to EWS in Ewing tumors.尤因肉瘤中与EWS融合的ETS家族新成员。
Oncogene. 1997 Mar 13;14(10):1159-64. doi: 10.1038/sj.onc.1200933.
7
SRE elements are binding sites for the fusion protein EWS-FLI-1.SRE元件是融合蛋白EWS-FLI-1的结合位点。
Nucleic Acids Res. 1996 Mar 15;24(6):1052-8. doi: 10.1093/nar/24.6.1052.
8
Microsatellites are EWS/FLI response elements: genomic "junk" is EWS/FLI's treasure.微卫星是EWS/FLI反应元件：基因组“垃圾”是EWS/FLI的宝藏。
Cell Cycle. 2008 Oct;7(20):3127-32. doi: 10.4161/cc.7.20.6892. Epub 2008 Oct 2.
9
Identification of target genes for the Ewing's sarcoma EWS/FLI fusion protein by representational difference analysis.通过代表性差异分析鉴定尤因肉瘤EWS/FLI融合蛋白的靶基因
Mol Cell Biol. 1995 Aug;15(8):4623-30. doi: 10.1128/MCB.15.8.4623.
10
EWS/ETS fusions activate telomerase in Ewing's tumors.EWS/ETS融合基因在尤因肉瘤中激活端粒酶。
Cancer Res. 2003 Dec 1;63(23):8338-44.
引用本文的文献
1
Efficacy and Safety of the Topotecan-Cyclophosphamide Regimen in Adult Metastatic Ewing Sarcoma: A Large, Multicenter, Real-World Study.拓扑替康-环磷酰胺方案治疗成人转移性尤因肉瘤的疗效与安全性：一项大型多中心真实世界研究
Cancers (Basel). 2025 Feb 6;17(3):550. doi: 10.3390/cancers17030550.
2
Pediatric Extra-skeletal Sinonasal Ewing's Sarcoma: Report of Two Cases with Literature Review.小儿鼻窦外尤文肉瘤：两例报告并文献复习
Indian J Surg Oncol. 2024 Sep;15(Suppl 3):400-407. doi: 10.1007/s13193-024-01974-2. Epub 2024 Jun 10.
3
Ewing Sarcoma of the Vagina: A Rare Clinical Entity.阴道尤因肉瘤：一种罕见的临床实体。
Cureus. 2024 Mar 20;16(3):e56550. doi: 10.7759/cureus.56550. eCollection 2024 Mar.
4
Bioinformatic Analysis of Recurrent Genomic Alterations and Corresponding Pathway Alterations in Ewing Sarcoma.尤因肉瘤中复发性基因组改变及相应信号通路改变的生物信息学分析
J Pers Med. 2023 Oct 15;13(10):1499. doi: 10.3390/jpm13101499.
5
Extensive analysis of 59 sarcoma-related fusion genes identified pazopanib as a potential inhibitor to COL1A1-PDGFB fusion gene.对59种肉瘤相关融合基因进行的广泛分析确定帕唑帕尼为COL1A1-PDGFB融合基因的潜在抑制剂。
Cancer Sci. 2023 Oct;114(10):4089-4100. doi: 10.1111/cas.15915. Epub 2023 Aug 17.
6
Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.在产前阶段发现了一例骨外尤文肉瘤，该病例中存在一种新型易位，导致 TAF15 和 ETV4 形成无框融合。
Virchows Arch. 2022 Oct;481(4):665-669. doi: 10.1007/s00428-022-03335-2. Epub 2022 May 9.
7
Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma.建立多重 RT-PCR 检测用于诊断尤文肉瘤的融合基因。
Diagn Pathol. 2021 Nov 8;16(1):102. doi: 10.1186/s13000-021-01164-6.
8
Survey of Paediatric Oncologists and Pathologists regarding Their Views and Experiences with Variant Translocations in Ewing and Ewing-Like Sarcoma: A Report of the Children's Oncology Group.儿童肿瘤学组关于儿科肿瘤学家和病理学家对尤因肉瘤及尤因样肉瘤中变异易位的观点和经验的调查：一份报告
Sarcoma. 2020 Dec 5;2020:3498549. doi: 10.1155/2020/3498549. eCollection 2020.
9
Molecular Approaches to Diagnosis in Ewing Sarcoma: Fluorescence In Situ Hybridization (FISH).分子诊断在尤文肉瘤中的应用：荧光原位杂交（FISH）技术。
Methods Mol Biol. 2021;2226:65-83. doi: 10.1007/978-1-0716-1020-6_6.
10
Function and regulation of the PEA3 subfamily of ETS transcription factors in cancer.ETS转录因子PEA3亚家族在癌症中的功能与调控
Am J Cancer Res. 2020 Oct 1;10(10):3083-3105. eCollection 2020.
本文引用的文献
1
The genomic breakpoint and chimeric transcripts in the EWSR1-ETV4/E1AF gene fusion in Ewing sarcoma.尤因肉瘤中EWSR1-ETV4/E1AF基因融合的基因组断点和嵌合转录本。
Cytogenet Cell Genet. 1998;82(3-4):278-83. doi: 10.1159/000015119.
2
A new member of the ETS family fused to EWS in Ewing tumors.尤因肉瘤中与EWS融合的ETS家族新成员。
Oncogene. 1997 Mar 13;14(10):1159-64. doi: 10.1038/sj.onc.1200933.
3
Neurogenic potential of Ewing's sarcoma cells.尤因肉瘤细胞的神经源性潜能。
Virchows Arch. 1997 Jan;430(1):41-6. doi: 10.1007/BF01008015.
4
Fusion of an ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy.在婴儿未分化肉瘤中，通过t(17;22)(q12;q12)染色体易位，ETS家族基因EIAF与EWS融合。
Genes Chromosomes Cancer. 1996 Feb;15(2):115-21. doi: 10.1002/(SICI)1098-2264(199602)15:2<115::AID-GCC6>3.0.CO;2-6.
5
A novel chimera gene between EWS and E1A-F, encoding the adenovirus E1A enhancer-binding protein, in extraosseous Ewing's sarcoma.在骨外尤文肉瘤中，一种EWS与E1A-F之间的新型嵌合基因，该基因编码腺病毒E1A增强子结合蛋白。
Biochem Biophys Res Commun. 1996 Feb 15;219(2):608-12. doi: 10.1006/bbrc.1996.0281.
6
Ewing sarcoma 11;22 translocation produces a chimeric transcription factor that requires the DNA-binding domain encoded by FLI1 for transformation.尤因肉瘤11号与22号染色体易位产生一种嵌合转录因子，该因子转化需要由FLI1编码的DNA结合结构域。
Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5752-6. doi: 10.1073/pnas.90.12.5752.
7
Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma.在人类黏液样脂肪肉瘤中CHOP与一种新型RNA结合蛋白的融合。
Nature. 1993 Jun 17;363(6430):640-4. doi: 10.1038/363640a0.
8
Allele-specific activation of the c-myc gene in an atypical Burkitt's lymphoma carrying the t(2;8) chromosomal translocation 250 kb downstream from c-myc.在携带位于c-myc下游250 kb处t(2;8)染色体易位的非典型伯基特淋巴瘤中，c-myc基因的等位基因特异性激活。
Gene. 1993 Feb 28;124(2):231-7. doi: 10.1016/0378-1119(93)90398-m.
9
Primitive neuroectodermal tumor and Ewing's sarcoma.原始神经外胚层肿瘤和尤因肉瘤。
Am J Surg Pathol. 1993 Jan;17(1):1-13. doi: 10.1097/00000478-199301000-00001.
10
Combinatorial generation of variable fusion proteins in the Ewing family of tumours.尤因家族肿瘤中可变融合蛋白的组合生成。
EMBO J. 1993 Dec;12(12):4481-7. doi: 10.1002/j.1460-2075.1993.tb06137.x.
Zotero 插件