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伴有涉及7号染色体长臂和16号染色体短臂染色体改变的动脉瘤样骨囊肿。

Aneurysmal bone cyst with chromosomal changes involving 7q and 16p.

作者信息

Baruffi M R, Neto J B, Barbieri C H, Casartelli C

机构信息

Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900, 14049-900 Ribeirão Preto, São Paolo, Brazil.

出版信息

Cancer Genet Cytogenet. 2001 Sep;129(2):177-80. doi: 10.1016/s0165-4608(01)00453-8.

DOI:10.1016/s0165-4608(01)00453-8
PMID:11566352
Abstract

An aneurysmal bone cyst was submitted to cytogenetic analysis. The modal chromosome number was 46. The composite karyotype was 40 approximately 48,XY,-Y[4],-6[3],del(7)(q32)[3],-9[3],+12[2],+13[2], inv(16)(p13.1q24)[4],-17[3],-19[4],-20[3][cp13]. The clonal structural changes detected were del(7)(q32) and inv(16)(p13.1q24). The breakpoints involved affected areas to which important genes for cell cycle regulation have been mapped. There is only one report in the literature of three aneurysmal bone cysts presenting clonal karyotypic alterations. The cytogenetic study of the aneurysmal bone cyst reported here showed different results when compared to those previously described in the literature.

摘要

对一个骨动脉瘤性囊肿进行了细胞遗传学分析。众数染色体数为46。复合核型为40~48,XY,-Y[4],-6[3],del(7)(q32)[3],-9[3],+12[2],+13[2],inv(16)(p13.1q24)[4],-17[3],-19[4],-20[3][cp13]。检测到的克隆性结构改变为del(7)(q32)和inv(16)(p13.1q24)。所涉及的断点影响到已定位细胞周期调控重要基因的区域。文献中仅有一篇报道了3例骨动脉瘤性囊肿呈现克隆性核型改变。与文献中先前描述的结果相比,此处报道的骨动脉瘤性囊肿的细胞遗传学研究显示出不同的结果。

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引用本文的文献

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[Giant cell tumor of bone : Morphology, molecular pathogenesis, and differential diagnosis].
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