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12号染色体短臂等臂染色体阳性松果体生殖细胞肿瘤

Isochromosome 12p-positive pineal germ cell tumor.

作者信息

de Bruin T W, Slater R M, Defferrari R, Geurts van Kessel A, Suijkerbuijk R F, Jansen G, de Jong B, Oosterhuis J W

机构信息

Department of Medicine, University of Utrecht, The Netherlands.

出版信息

Cancer Res. 1994 Mar 15;54(6):1542-4.

PMID:8137260
Abstract

We report the chromosomal characteristics of a recurrent pineal non-seminomatous germ cell tumor in a 16-year-old male patient. This non-seminomatous tumor had the following components: embryonal carcinoma, teratoma, yolk sac tumor, and trophoblastic giant cells. Chromosome analysis showed a near-triploid karyotype (64 chromosomes), including two copies of an isochromosome 12p. This latter finding could be confirmed using 12p-specific competitive in situ hybridization techniques applied to cultured cells (T2219-P6 cell line) derived from the tumor. The present findings are in keeping with the hypothesis that isochromosome 12p formation is associated with the development of malignant extragonadal germ cell tumors.

摘要

我们报告了一名16岁男性复发性松果体非精原性生殖细胞肿瘤患者的染色体特征。这种非精原性肿瘤具有以下成分:胚胎癌、畸胎瘤、卵黄囊瘤和滋养层巨细胞。染色体分析显示接近三倍体核型(64条染色体),包括两条等臂染色体12p。利用应用于来自该肿瘤的培养细胞(T2219-P6细胞系)的12p特异性竞争性原位杂交技术可以证实这一发现。目前的研究结果与等臂染色体12p的形成与恶性性腺外生殖细胞肿瘤的发生有关这一假说相符。

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Isochromosome 12p-positive pineal germ cell tumor.12号染色体短臂等臂染色体阳性松果体生殖细胞肿瘤
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