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伴有染色体易位t(21;22)(q22;q12)的下颌骨尤因肉瘤

Mandibular Ewing sarcoma with chromosomal translocation t(21;22)(q22;q12).

作者信息

Shibasaki Maiko, Iwai Toshinori, Maegawa Jiro, Inayama Yoshiaki, Yokosuka Tomoko, Yokota Shumpei, Ohta Shinsuke, Matsui Yoshiro, Mitsudo Kenji, Tohnai Iwai

机构信息

Department of Oral and Maxillofacial Surgery, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.

出版信息

J Craniofac Surg. 2013 Jul;24(4):1469-72. doi: 10.1097/SCS.0b013e31829030ed.

DOI:10.1097/SCS.0b013e31829030ed
PMID:23851834
Abstract

Ewing sarcoma (ES) is a primary bone malignant neoplasm and is the second most common primary malignancy of the bone found in childhood and adolescence after osteosarcoma. ES has an annual frequency in the population younger than 20 years of approximately 2.9 per million. ES occurs most frequently in the long bones of the extremities and pelvis and very rarely in the jaw. Recently, it was revealed that chromosomal translocation t(11;22)(q24;q12), which fuses the EWS gene on chromosome 22 and the FLI-1 gene on chromosome 11, occurs in most cases of ES. We report here a rare case of mandibular ES in a 10-year-old child with chromosomal translocation t(21;22)(q22;q12) in which the EWS gene is fused with the ERG gene on chromosome 21.

摘要

尤因肉瘤(ES)是一种原发性骨恶性肿瘤,是儿童和青少年中仅次于骨肉瘤的第二常见的原发性骨恶性肿瘤。ES在20岁以下人群中的年发病率约为百万分之2.9。ES最常发生于四肢长骨和骨盆,极少发生于颌骨。最近发现,大多数ES病例存在染色体易位t(11;22)(q24;q12),该易位使22号染色体上的EWS基因与11号染色体上的FLI-1基因融合。我们在此报告一例罕见的10岁儿童下颌骨ES病例,其存在染色体易位t(21;22)(q22;q12),其中EWS基因与21号染色体上的ERG基因融合。

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1
Mandibular Ewing sarcoma with chromosomal translocation t(21;22)(q22;q12).伴有染色体易位t(21;22)(q22;q12)的下颌骨尤因肉瘤
J Craniofac Surg. 2013 Jul;24(4):1469-72. doi: 10.1097/SCS.0b013e31829030ed.
2
Ewing sarcoma with 7;22 translocation: three new cases and clinicopathological characterization.伴有7号与22号染色体易位的尤因肉瘤:三例新病例及临床病理特征
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Chromosomal aberrations in primary Ewing sarcoma of the mandible.
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Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors.多种染色体机制在尤因肿瘤中产生EWS/FLI1或EWS/ERG融合基因。
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Primary peripheral PNET/Ewing's sarcoma arising in the meninges, confirmed by the presence of the rare translocation t(21;22) (q22;q12).原发于脑膜的外周原始神经外胚层肿瘤/尤文肉瘤,通过存在罕见的易位 t(21;22)(q22;q12) 得到证实。
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EWS/FLI-1 fusion signal inserted into chromosome 11 in one patient with morphologic features of Ewing sarcoma, but lacking t(11;22).一名具有尤因肉瘤形态学特征但缺乏t(11;22)的患者中,EWS/FLI-1融合信号插入到11号染色体。
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Molecular diagnosis of Ewing tumors: improved detection of EWS-FLI-1 and EWS-ERG chimeric transcripts and rapid determination of exon combinations.尤因肿瘤的分子诊断:改进EWS-FLI-1和EWS-ERG嵌合转录本的检测及外显子组合的快速测定
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A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG.另一种尤因肉瘤易位,即t(21;22),将EWS基因与另一种ETS家族转录因子ERG融合。
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引用本文的文献

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Bone- and cartilage-forming tumors and ewing sarcoma: an update with a gnathic emphasis.骨与软骨形成性肿瘤及尤因肉瘤:以颌骨为重点的最新进展
Head Neck Pathol. 2014 Dec;8(4):454-62. doi: 10.1007/s12105-014-0587-8. Epub 2014 Nov 20.
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High grade primitive neuroectodermal tumor of the uterus: A case report.子宫高级别原始神经外胚层肿瘤:一例报告。
Gynecol Oncol Case Rep. 2013 Oct 19;7:10-2. doi: 10.1016/j.gynor.2013.10.002. eCollection 2014 Jan.