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睾丸生殖细胞癌的基因组特征:与临床分期 1 混合生殖细胞非精原细胞瘤睾丸生殖细胞肿瘤的治疗结果的相关性。

Genomic characterization of testis cancer: association of alterations with outcome of clinical stage 1 mixed germ cell nonseminomatous germ cell tumor of the testis.

机构信息

Department of Pathology, University of Texas Health Science Center, San Antonio, TX 78229, USA.

出版信息

Urology. 2012 Aug;80(2):485.e1-5. doi: 10.1016/j.urology.2012.02.026. Epub 2012 Apr 13.

Abstract

OBJECTIVE

To identify genomic markers that are reliable in predicting lymph node metastases in clinical stage 1 non-seminomatous germ cell tumors (NSGCTs).

METHODS

Comparative genomic array technology was used to identify regions of genomic amplification or deletion in clinical stage 1 NSGCTs. Twelve stage 1 mixed germ cell testicular tumors were analyzed, which were obtained from 8 patients who had no evidence of nodal metastasis when retroperitoneal lymph node dissection (RPLND) had been performed (ie, were RPLND negative) and 4 patients who had nodal metastases (ie, were RPLND positive).

RESULTS

Differences between the genomic alterations associated with the two classes of tumors were identified. Genomic alterations previously reported in other subtypes of testicular tumors were observed in both metastatic and nonmetastatic cases. Statistically suggestive differences in mean copy number of the Y chromosome were found between metastatic and nonmetastatic cases (P = .0142).

CONCLUSION

This finding suggests the presence of chromosome Y deletions to be a potential genetic marker for prediction of mixed germ cell tumor progression. This is a first step toward identifying chromosomal markers of progression in testicular cancer in clinical stage 1 mixed germ cell NSGCT.

摘要

目的

确定在临床 1 期非精原细胞瘤生殖细胞肿瘤(NSGCT)中可靠预测淋巴结转移的基因组标记物。

方法

使用比较基因组阵列技术鉴定临床 1 期 NSGCT 中基因组扩增或缺失的区域。分析了 12 例混合性生殖细胞睾丸肿瘤,这些肿瘤取自 8 例患者,这些患者在进行腹膜后淋巴结清扫术(RPLND)时没有淋巴结转移的证据(即 RPLND 阴性),4 例患者有淋巴结转移(即 RPLND 阳性)。

结果

鉴定出与两种肿瘤相关的基因组改变之间的差异。在转移性和非转移性病例中均观察到其他类型睾丸肿瘤中报道的基因组改变。在转移性和非转移性病例之间,Y 染色体平均拷贝数的统计学差异有提示意义(P=0.0142)。

结论

这一发现表明存在染色体 Y 缺失可能是预测混合性生殖细胞瘤进展的潜在遗传标记物。这是确定临床 1 期混合性生殖细胞 NSGCT 睾丸癌进展的染色体标记物的第一步。

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