MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14)
MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14)
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DOI：
10.1159/000134368
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发表时间：
1996-01-01
期刊：
影响因子：
--
通讯作者：
Bernheim, A
中科院分区：
文献类型：
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作者：
Meddeb, M;Valent, A;Bernheim, A
本文报告一例横纹肌肉瘤伴2；13个易位和多个双分钟染色体。利用比较基因组杂交鉴定了扩增DNA的起源，确定了12q13 -> q14的独特位置。带状12q13已被证明包含几个偶尔在其他肉瘤中扩增的基因。用该区域特异性探针对肿瘤中期进行荧光原位杂交，发现双分钟含有MDM2基因，但不含CDK4基因。通过Southern杂交进一步量化MDM2扩增，结果显示平均每个单倍体基因组有25个拷贝。横纹肌肉瘤中MDM2扩增的第一例。
This report describes a case of rhabdomyosarcoma associated with a 2;13 translocation and multiple double minute chromosomes. The origin of the amplified DNA was identified using comparative genomic hybridization, which pinpointed a unique spot at 12q13 --> q14. Band 12q13 has been shown to contain several genes that are occasionally amplified in other sarcomas. Fluorescence in situ hybridization to tumor metaphases with probes specific for this region indicated that the double minutes contained the MDM2 gene but not the CDK4 gene. MDM2 amplification was further quantified by Southern hybridization, which showed a mean value of 25 copies per haploid genome. This is the first example of MDM2 amplification in a rhabdomyosarcoma.