富含梭形细胞的睾丸性索间质瘤(TSCSTs)包括一组主要(但不限于):肌样性腺间质瘤(MGST),成人颗粒细胞瘤(AGCT),和未分类的TSCST。这些实体显示组织病理学重叠,以前的基因组研究未能确定特定的致癌驱动因素。DNA测序结果表明,不同类型的富含梭形细胞的TSCST具有染色体增益的反复模式,与倍性变化一致。然而,这些结果尚未通过其他方法得到验证,这些变化在单个肿瘤中的程度仍未知.我们使用了市售荧光原位杂交(FISH)探针(3q11.2、6p24.3、6q11.1、6q23、7q11.21-q11.22、9p21.3、11q13.3、17p11.2)的组合来列举在先前的研究中鉴定为改变(获得)的染色体子集。我们分析了10例(3MGST,4个未分类的TSCST,3AGCT),包括7个以前测序过的。FISH显示染色体3、6、7、9和11的增益高于预先设定的阈值(25%)50%,80%,70%,20%,40%的病例,分别,只有1个未分类的TSCST中存在17号染色体的增益。具有染色体增益的细胞的比例范围为26%至60%。具有来自先前基因组分析的可用拷贝数数据的肿瘤显示FISH和测序结果之间的部分不一致。这项研究表明,富含梭形细胞的TSCST具有染色体增益的反复出现模式,它们存在于肿瘤细胞的可变亚群中。需要进一步的研究来确定这些染色体变化是否代表致癌机制或次要事件。
Spindle cell-rich testicular sex cord-stromal tumors (TSCSTs) comprise a group that includes mostly (but not exclusively): myoid gonadal stromal tumor (MGST), adult granulosa cell tumor (AGCT), and unclassified TSCST. These entities demonstrate histopathologic overlap, and prior genomic studies have failed to identify specific oncogenic drivers. Results of DNA sequencing suggest that different types of spindle cell-rich TSCSTs harbor a recurrent pattern of chromosomal gains. However, these results have not been validated by alternative methods and the extent of these changes within individual tumors remains unknown. We used a combination of commercially available fluorescence in-situ hybridization (FISH) probes (3q11.2, 6p24.3, 6q11.1, 6q23, 7q11.21-q11.22, 9p21.3, 11q13.3, 17p11.2) to enumerate a subset of chromosomes identified as altered (gained) in prior studies. We analyzed 10 cases (3 MGST, 4 unclassified TSCST, 3 AGCT), including 7 that had been previously sequenced. FISH demonstrated gains of chromosomes 3, 6, 7, 9, and 11 above the pre-established threshold (25%) in 50%, 80%, 70%, 20%, and 40% of cases, respectively, with gains of chromosome 17 being present in only 1 unclassified TSCST. The proportion of cells with chromosomal gains ranged from 26% to 60%. Tumors with available copy number data from prior genomic analyses showed a partial discordance between FISH and sequencing results. This study demonstrates that spindle-cell rich TSCSTs harbor a recurrent pattern of chromosomal gains, which are present in variable subsets of neoplastic cells. Further studies are needed to determine if these chromosomal changes represent a mechanism relevant for oncogenesis or a secondary event.