Cheng Liang, Zhang Shaobo, MacLennan Gregory T, Poulos Christopher K, Sung Ming-Tse, Beck Stephen D, Foster Richard S
Departments of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 West 11th Street, Indianapolis, IN 46202, USA.
Clin Cancer Res. 2006 Oct 1;12(19):5668-72. doi: 10.1158/1078-0432.CCR-06-0976.
The distinction of epidermoid cyst of the testis from teratoma is of critical importance because the former is benign and the latter is a malignant tumor that may have associated metastasis of either teratomatous or non-teratomatous germ cell tumor types. Chromosome 12p abnormalities are seen in the vast majority of testicular germ cell tumors of adults and are present in all histologic subtypes. In this study, we investigated the clinical utility of interphase fluorescence in situ hybridization (FISH) analysis of chromosome 12p abnormalities for distinguishing epidermoid cysts of the testis from pure mature teratoma.
Sixteen testicular epidermoid cysts and 17 testicular teratomas were investigated for isochromosome 12p [i(12p)] and 12p overrepresentation using interphase FISH analysis.
Neither i(12p) nor 12p overrepresentation were observed in 16 epidermoid cyst cases, whereas i(12p) was detected in 76% of teratomas and 12p overrepresentation was identified in 29% of teratomas. Overall, 88% of testicular teratomas had chromosome 12p abnormalities.
FISH identification of i(12p) and/or 12p overrepresentation in routinely processed surgical specimens is a useful ancillary diagnostic tool in distinguishing testicular epidermoid cysts from teratoma.
区分睾丸表皮样囊肿和畸胎瘤至关重要，因为前者为良性，而后者是恶性肿瘤，可能伴有畸胎瘤或非畸胎瘤类型的生殖细胞肿瘤转移。12号染色体短臂异常在绝大多数成人睾丸生殖细胞肿瘤中可见，且存在于所有组织学亚型中。在本研究中，我们调查了间期荧光原位杂交（FISH）分析12号染色体短臂异常在区分睾丸表皮样囊肿和纯成熟畸胎瘤方面的临床实用性。
采用间期FISH分析，对16例睾丸表皮样囊肿和17例睾丸畸胎瘤进行等臂染色体12p [i(12p)]和12号染色体短臂过度表达检测。
16例表皮样囊肿病例中均未观察到i(12p)和12号染色体短臂过度表达，而76%的畸胎瘤检测到i(12p)，29%的畸胎瘤检测到12号染色体短臂过度表达。总体而言，88%的睾丸畸胎瘤存在12号染色体短臂异常。
在常规处理的手术标本中，通过FISH鉴定i(12p)和/或12号染色体短臂过度表达是区分睾丸表皮样囊肿和畸胎瘤的有用辅助诊断工具。
