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一例罕见的肾滑膜肉瘤,具有(X;18)易位及SYT-SSX2融合基因。

A rare synovial sarcoma of the kidney exhibiting translocation (X;18) and SYT-SSX2 fusion gene.

作者信息

Dai Yuan-Chang, Wu Huei-Min, Chang Chia-Wei, Liou Chiou-Ping, Tzeng Ching-Cherng

机构信息

Department of Pathology, National Cheng Kung University Hospital, Tainan, Taiwan, ROC.

出版信息

Zhonghua Yi Xue Za Zhi (Taipei). 2002 Jun;65(6):293-7.

PMID:12201571
Abstract

Malignant spindle cell neoplasms are often a diagnostic challenge in histopathology, especially those arising from unusual locations. The authors report a primary synovial sarcoma of the kidney in a 19-year-old female. Initially, the tumor was considered adult Wilms' tumor exhibiting predominantly blastemal component. It was then revised to monophasic synovial sarcoma due to discovery of the characteristic chromosomal translocation (X;18)(p11.2;q11.2). This is the tenth reported case of renal synovial sarcoma with genetic confirmation. In addition to emphasizing the usefulness of genetic study in diagnostic pathology, the clinical implication of SYT/SSX subtypes and other additional chromosomal changes were also discussed by reviewing literature.

摘要

恶性梭形细胞瘤在组织病理学中常常是一个诊断难题,尤其是那些起源于不寻常部位的肿瘤。作者报告了一例19岁女性的原发性肾滑膜肉瘤。最初,该肿瘤被认为是主要表现为胚芽成分的成人威尔姆斯瘤。随后,由于发现了特征性的染色体易位(X;18)(p11.2;q11.2),其被修订为单相滑膜肉瘤。这是第十例经基因确认的肾滑膜肉瘤病例。除了强调基因研究在诊断病理学中的作用外,还通过文献复习讨论了SYT/SSX亚型及其他额外染色体变化的临床意义。

相似文献

1
A rare synovial sarcoma of the kidney exhibiting translocation (X;18) and SYT-SSX2 fusion gene.一例罕见的肾滑膜肉瘤,具有(X;18)易位及SYT-SSX2融合基因。
Zhonghua Yi Xue Za Zhi (Taipei). 2002 Jun;65(6):293-7.
2
SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.SYT-SSX基因融合作为滑膜肉瘤形态和预后的决定因素
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[Detection and analysis of SYT-SSX fusion gene in synovial sarcoma].[滑膜肉瘤中SYT-SSX融合基因的检测与分析]
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The SYT-SSX1 variant of synovial sarcoma is associated with a high rate of tumor cell proliferation and poor clinical outcome.滑膜肉瘤的SYT-SSX1变异体与肿瘤细胞的高增殖率及不良临床预后相关。
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Detection of SYT-SSX fusion transcripts in archival synovial sarcomas by real-time reverse transcriptase-polymerase chain reaction.通过实时逆转录聚合酶链反应检测存档滑膜肉瘤中的SYT-SSX融合转录本
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SYT-SSX is critical for cyclin D1 expression in synovial sarcoma cells: a gain of function of the t(X;18)(p11.2;q11.2) translocation.SYT-SSX对滑膜肉瘤细胞中细胞周期蛋白D1的表达至关重要:t(X;18)(p11.2;q11.2)易位的功能获得。
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[Analysis of SYT/SSX1 and SYT/SSX2 fusion genes from synovial sarcoma].[滑膜肉瘤中SYT/SSX1和SYT/SSX2融合基因的分析]
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Cryptic chromosome rearrangement resulting in SYT-SSX2 fusion gene in a monophasic synovial sarcoma.单相滑膜肉瘤中导致SYT-SSX2融合基因的隐匿性染色体重排。
Cancer Genet Cytogenet. 2008 Nov;187(1):45-9. doi: 10.1016/j.cancergencyto.2008.07.008.

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Primary synovial sarcoma of the kidney: a case report of complete pathological response at a Lebanese tertiary care center.原发性肾滑膜肉瘤:黎巴嫩一家三级护理中心完全病理缓解的病例报告
BMC Urol. 2018 May 11;18(1):40. doi: 10.1186/s12894-018-0358-z.
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Clear cell sarcoma of the kidney distinguished from synovial sarcoma using genetic analysis: a case report.
利用基因分析鉴别肾透明细胞肉瘤与滑膜肉瘤:一例报告
BMC Res Notes. 2015 Apr 8;8:129. doi: 10.1186/s13104-015-1100-5.
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The value of immunohistochemistry in diagnosing primary renal synovial sarcoma: a case report and literature review.免疫组织化学在原发性肾滑膜肉瘤诊断中的价值:一例报告及文献复习
Int Surg. 2012 Apr-Jun;97(2):177-81. doi: 10.9738/CC57.1.
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A case of renal synovial sarcoma: complete remission was induced by chemotherapy with doxorubicin and ifosfamide.一例肾滑膜肉瘤:多柔比星和异环磷酰胺化疗诱导完全缓解。
Korean J Intern Med. 2004 Mar;19(1):62-5. doi: 10.3904/kjim.2004.19.1.62.