收藏 | 手机打开

High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication

Wei Wang  Anli Zhang  Yujie Li  Qianqian Li  Jingjing Chen  Heng Li  Sibai Sun  Haibo Wu  
【摘要】:Aims: Central nervous system high-grade neuroepithelial tumor with BCOR alteration(CNS HGNETBOCR) represents a distinct molecular entity. The genetic characteristic is the internal tandem duplication within exon 15 of the BCOR transcriptional co-repressor gene(BCOR-ITD), which has also been reported in clear cell sarcomas of the kidney(CCSK), primitive myxoid mesenchymal tumors of infancy(PMMTI), and undifferentiated round cell sarcomas(URCS).Methods and results: The clinical, pathological, and molecular characteristics of four cases of HGNETBOCR were presented in this study. Three cases occurred in infants(23 months to 4 years old) and one case was 13 years old teenager. The tumors were located in the cerebellum(two cases), frontal lobe(one case) and parietal lobe(one case). On magnetic resonance imaging, a large and wellcircumscribed mass with inconspicuous enhancement was revealed in each case. Histologically, the tumors were composed of spindle to ovoid cells, prone to forming perivascular pseudorosettes and palisading necrosis, but absence of microvascular proliferation. Immunohistochemistry showed that the tumor cells were diffusely positive for BCOR, SOX2, CD133, Nestin, CD56, CD99, Vimentin, and focally positive for Olig-2, S100, SOX10, Syn. GFAP was negative and Ki-67 index was about 20% to40%. BCOR-ITD was found in all 4 cases with the duplicated sequences between87 bp and 119 bp.Conclusion: As a new entity of central nervous system tumors, CNS HGNET-BCOR has unique clinical,pathological and molecular characteristics, which can be detected by BCOR immunohistochemistry and confirmed by BCOR molecular testing. This study discovered that these tumors express stem cell markers, suggesting that it may be derived from tumor stem cells.

中国期刊全文数据库 前19条
1 Anna Lavinia Bulotta;Maria Vittoria Stern;Dario Moneghini;Filippo Parolini;Maria Pia Bondioni;Guido Missale;Giovanni Boroni;Daniele Alberti;;Endoscopic treatment of periampullary duodenal duplication cysts in children:Four case reports and review of the literature[J];World Journal of Gastrointestinal Endoscopy;2021年10期
2 ;Evolution of double MutT/Nudix domain-containing proteins: similar domain architectures from independent gene duplication-fusion events[J];遗传学报;2009年10期
3 李龙 ,张金哲 ,王燕霞 ,陈幼容 ,秦红;Complete duplication of the colon :definitive management by resection of the duplication without the normal bowel[J];Chinese Medical Journal;2002年05期
4 Yue-hong(Helen) ZHANG;Xiao-yan JIA;Han-feng LIN;Xu-fei TAN;;Be careful! Avoiding duplication:a case study[J];Journal of Zhejiang University-Science B(Biomedicine & Biotechnology);2013年04期
5 Jae Young Park;Kyu-Hee Her;Bong Soo Kim;Young Hee Maeng;;A completely isolated intestinal duplication cyst mimicking ovarian cyst torsion in an adult[J];World Journal of Gastroenterology;2014年02期
6 Fabiana Pirani Carneiro;Maria de Nazareth Sobreira;Ana Emília B de Azevedo;Andréa Pedrosa Ribeiro Alves;Karina Martins Campos;;Colonic duplication in an adult mimicking a tumor of pancreas[J];World Journal of Gastroenterology;2008年06期
7 Yuen Chi Ho;;Total colorectal and terminal ileal duplication presenting as intussusception and intestinal obstruction[J];World Journal of Gastroenterology;2012年43期
8 Morakod Deesomsak;Pitulak Aswakul;Pairoj Junyangdikul;Varayu Prachayakul;;Rare adult gastric duplication cyst mimicking a gastrointestinal stromal tumor[J];World Journal of Gastroenterology;2013年45期
9 Yue-hong Zhang;Xiao-yan Jia;Han-feng Lin;Xu-fei Tan;;Editorial:Be careful! Avoiding duplication: a case study[J];Journal of Zhejiang University-Science A(Applied Physics & Engineering);2013年09期
10 Irwin M. DAVID;;Gene duplication plays a major role in gene co-option: Studies into the evolution of the motilin/ghrelin family and their receptors[J];Chinese Science Bulletin;2011年25期
11 王海锋;林振权;高艳;胥超;;Kinetics of catalytically activated duplication in aggregation growth[J];Chinese Physics B;2009年08期
12 C Fotiadis;M Genetzakis;I Papandreou;EP Misiakos;E Agapitos;GC Zografos;;Colonic duplication in adults: Report of two cases presenting with rectal bleeding[J];World Journal of Gastroenterology;2005年32期
13 ;LTR-mediated retroposition as a mechanism of RNA-based duplication in metazoans[J];Science Foundation in China;2017年01期
14 Bing-Lu Li;Xin Huang;Chao-Ji Zheng;Jiao-Lin Zhou;Yu-Pei Zhao;;Ileal duplication mimicking intestinal intussusception:A congenital condition rarely reported in adult[J];World Journal of Gastroenterology;2013年38期
15 Cristina Fiorani;Rosa Scaramuzzo;Alessandra Lazzaro;Livia Biancone;Giampiero Palmieri;Achille L Gaspari;Giuseppe Sica;;Intestinal duplication in adulthood: A rare entity, difficult to diagnose[J];World Journal of Gastrointestinal Surgery;2011年08期
16 Anna Wiechowska-Kozlowska;Ewa Wunsch;Marek Majewski;Piotr Milkiewicz;;Esophageal duplication cysts:Endosonographic findings in asymptomatic patients[J];World Journal of Gastroenterology;2012年11期
17 Alessandro Guarise;Niccolo' Faccioli;Mauro Ferrari;Luigi Romano;Alice Parisi;Massimo Falconi;;Duodenal duplication cyst causing severe pancreatitis:Imaging findings and pathological correlation[J];World Journal of Gastroenterology;2006年10期
18 Shao-Bo Yang;Hong Yang;Shan Zheng;Gong Chen;;Thoracoabdominal duplication with hematochezia as an onset symptom in a baby: A case report[J];World Journal of Clinical Cases;2021年24期
19 Seung Yeon Ko;Sun Hye Ko;Sungeun Ha;Mi Sung Kim;Hyang Mi Shin;Myong Ki Baeg;;A case of a duodenal duplication cyst presenting as melena[J];World Journal of Gastroenterology;2013年38期
中国重要会议论文全文数据库 前20条
1 Wei Wang;Anli Zhang;Yujie Li;Qianqian Li;Jingjing Chen;Heng Li;Sibai Sun;Haibo Wu;;High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication[A];2021年中国肿瘤标志物学术大会暨第十五届肿瘤标志物青年科学家论坛论文集[C];2021年
2 Cheng-Yi Tang;Jiang-Yan Fu;Gui-Hua Lu;Jin-Liang Qi;Yong-Hua Yang;;The genome and transcriptome of Lithospermum erythrorhizon[A];2018中国遗传学会第十次全国会员代表大会暨学术讨论会论文摘要汇编[C];2018年
3 ;Phylogenetic Analysis of Gelsolin/Villin Superfamily Genes[A];中国细胞生物学学会第九次会员代表大会暨青年学术大会论文摘要集[C];2007年
4 王晔;;Characterization of CNVs at base-pair level reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and the structure of a duplication CNV[A];第十四次全国医学遗传学学术会议论文汇编[C];2015年
5 Zhang Le-Ping;Yu Dan-Na;Kenneth B.Storey;Cheng Hong-Yi;Zhang Jia-Yong;;Higher tRNA gene duplication in mitogenomes of praying mantises(Dictyoptera,Mantodea) and the phylogeny within Mantodea[A];浙江省动物学会第十三次会员代表大会暨学术研讨会论文摘要集[C];2018年
6 ;Partial duplication of jaw,parotid aplasia,and facial cleft,is it a separate developmental syndrome?[A];第10次全国口腔颌面医学影像学专题研讨会暨国家级口腔颌面医学影像诊断学新进展学习班论文汇编[C];2012年
7 王家义;锺邦柱;;Centrosomal DNA-PK induced centrosome over-duplication is prevented by NR5A1[A];2012年中国科协海峡两岸青年科学家学术活动月——第九届海峡两岸细胞生物学学术研讨会论文集[C];2012年
8 Yuan Haiming;Xie Yingjun;;A rare de novo interstitial duplication at 4p15.2 in a boy with severe congenital heart defects, limb anomalies, hypogonadism and global developmental delay[A];中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会论文汇编[C];2016年
9 Jing Liu;Hao Hu;Na Ma;Zhengjun Jia;Yuchun Zhou;Jiancheng Hu;Hua Wang;;A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome[A];第十届全国遗传病诊断与产前诊断学术交流会暨海峡两岸医药卫生交流协会遗传与生殖专业委员会第一届年会论文汇编[C];2016年
10 ;Studying gene duplication and genetic variation of budding yeast:a systems and interdisciplinary approach[A];第十一次中国生物物理学术大会暨第九届全国会员代表大会摘要集[C];2009年
11 Chunchun Hu;Chunxue Liu;Huiping Li;Bingrui Zhou;Qiong Xu;Renchao Liu;Xiu Xu;;NSDHL-Containing Duplication at Xq28 in a Male Patient with Autism Spectrum Disorder[A];第十三届江浙沪儿科学术会议暨2016年浙江省医学会儿科学学术年会论文汇编[C];2016年
12 liu jing;hu hao;ma na;jia zhengjun;zhou yuchun;hu jiancheng;wang hua;;A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome[A];中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会论文汇编[C];2016年
13 ;Exploring the evolution mechanism of function module in the biological networks[A];第十三届全国非线性振动暨第十届全国非线性动力学和运动稳定性学术会议摘要集[C];2011年
14 廉建坡;徐成党;吴登龙;;Retroperitoneal Gastric Duplication Cyst mimicking a non-functional adrenal tumor in an Adult Patient[A];首届男性大健康中西医协同创新论坛暨第三届全国中西医结合男科青年学术论坛论文集[C];2019年
15 Huamei Hu;Yongyi Ma;Yanmei Luo;Rong Zhang;Juchun Xu;Hong Yao;;Submicroscopic familial duplication at 18q22.3 without phenotypic effect[A];第十一届全国遗传病诊断与产前诊断学术交流会暨第二届海峡两岸医药卫生交流协会遗传与生殖专业委员会年会论文集[C];2018年
16 ;Molecular genetics study on Charcot-Marie-Tooth 1A duplication[A];中华医学会病理学分会2010年学术年会日程及论文汇编[C];2010年
17 ;Dramatic divergences in size between two vomeronasal pheromone receptor gene families in mice and rats[A];中国遗传学会七届一次青年研讨会暨上海高校模式生物E——研究院第一届模式生物学术研讨会论文汇编[C];2005年
18 ;Analysis of rescue experiment in Paxl knock-down zebrafish reveals the lineage-specific function of the Pax1 C-terminus[A];中国的遗传学研究——遗传学进步推动中国西部经济与社会发展——2011年中国遗传学会大会论文摘要汇编[C];2011年
19 Joseph Kagunda Kimani;Ming Qi;;A de novo 7.7Mb isodicentric 15q duplication associated with severe mental retardation detected by molecular cytogenetics[A];2013浙江省医学遗传学学术年会论文汇编[C];2013年
20 Lei Feng;Dongyang Huang;;Evolution of the DHRS4 gene cluster and antisense AS1DHRS4[A];第五届全国生物信息学与系统生物学学术大会论文集[C];2012年
中国硕士学位论文全文数据库 前2条
1 刘晓涛;概念迁移视角下的中式英语语义重复研究[D];燕山大学;2012年
2 李雨桐;基于语料库的汉语重叠式礼貌性研究[D];东北师范大学;2016年
 快捷付款方式  订购知网充值卡  订购热线  帮助中心
  • 400-819-9993
  • 010-62982499
  • 010-62783978