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仅伴有染色体数目改变的胚胎性横纹肌肉瘤。病例报告及文献复习

Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature.

作者信息

Polito P, Dal Cin P, Sciot R, Brock P, Van Eyken P, Van den Berghe H

机构信息

Center of Human Genetics, University of Leuven, Belgium.

出版信息

Cancer Genet Cytogenet. 1999 Mar;109(2):161-5. doi: 10.1016/s0165-4608(98)00168-x.

DOI:10.1016/s0165-4608(98)00168-x
PMID:10087953
Abstract

An embryonal rhabdomyosarcoma, presenting as a retroperitoneal mass in a 15-year-old girl, is reported. The histological and immunohistochemical picture was typical, except for the presence of focal chondroid differentiation. Interestingly, expression of the "muscle markers" desmin and alpha-sarcomeric actin was present in the latter areas. Cytogenetic analysis showed a hyperdiploid karyotype without structural chromosome changes. The pertinent literature on the subject is reviewed. Hyperdiploidy of the clonal type seems to occur frequently, but no characteristic karyotype is so far emerging.

摘要

报告了一例15岁女孩表现为腹膜后肿块的胚胎性横纹肌肉瘤。组织学和免疫组化表现典型,只是存在局灶性软骨样分化。有趣的是,在后者区域存在“肌肉标志物”结蛋白和α-肌动蛋白的表达。细胞遗传学分析显示为超二倍体核型,无染色体结构改变。对该主题的相关文献进行了综述。克隆型超二倍体似乎经常出现,但目前尚未出现特征性核型。

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Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature.仅伴有染色体数目改变的胚胎性横纹肌肉瘤。病例报告及文献复习
Cancer Genet Cytogenet. 1999 Mar;109(2):161-5. doi: 10.1016/s0165-4608(98)00168-x.
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引用本文的文献

1
Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family.横纹肌肉瘤中重现的 t(2;2) 和 t(2;8) 易位,而没有典型的 PAX-FOXO1 融合,使 PAX3 与核受体转录共激活因子家族的成员结合。
Genes Chromosomes Cancer. 2010 Mar;49(3):224-36. doi: 10.1002/gcc.20731.
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Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype.胚胎性和肺泡性横纹肌肉瘤中RB1基因的改变:特别提及pRB免疫反应性在横纹肌肉瘤亚型鉴别诊断中的应用
J Cancer Res Clin Oncol. 2008 Oct;134(10):1097-103. doi: 10.1007/s00432-008-0385-3. Epub 2008 Apr 2.
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Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma.成人硬化性横纹肌肉瘤:与胚胎性横纹肌肉瘤的细胞遗传学联系
Virchows Arch. 2005 Jan;446(1):64-7. doi: 10.1007/s00428-004-1131-0. Epub 2004 Nov 17.