Afify A, Mark H F
Department of Pathology, Rhode Island Hospital, Providence 02903, USA.
Cancer Genet Cytogenet. 1999 Jan 15;108(2):127-32. doi: 10.1016/s0165-4608(98)00119-8.
Embryonal rhabdomyosarcoma is the most common malignant soft-tissue tumor in childhood. Cytogenetic studies of this tumor are rare. In one study trisomy 8 was found to be a primary cytogenetic abnormality. In view of the findings of trisomy 8 in a multitude of cancers, we conducted a pilot study to test the hypothesis that a subset of rhabdomyosarcoma also exists with trisomy 8. Accordingly, archival tissues of 12 cases of rhabdomyosarcoma were retrieved and fluorescence in situ hybridization (FISH) using a chromosome 8-specific, alpha-satellite probe was undertaken on formalin-fixed paraffin-embedded tissue sections using the protocol optimized in the Cytogenetics Laboratory at Rhode Island Hospital. The results obtained demonstrated that 6 of 12 tumors showed chromosome 8 trisomy, when a 15% threshold is adopted. In addition, one case was borderline, with 11% of the cells found positive for three fluorescent signals. Future experiments utilizing additional specimens from our centers as well as from other laboratories are needed to confirm and extend the findings of the present study.
胚胎性横纹肌肉瘤是儿童期最常见的恶性软组织肿瘤。对该肿瘤的细胞遗传学研究很少。在一项研究中，发现8号染色体三体是主要的细胞遗传学异常。鉴于在多种癌症中都发现了8号染色体三体的情况，我们开展了一项初步研究，以检验横纹肌肉瘤的一个亚群也存在8号染色体三体这一假说。因此，我们检索了12例横纹肌肉瘤的存档组织，并使用在罗德岛医院细胞遗传学实验室优化的方案，对福尔马林固定石蜡包埋的组织切片进行了使用8号染色体特异性α卫星探针的荧光原位杂交（FISH）检测。获得的结果表明，当采用15%的阈值时，12个肿瘤中有6个显示8号染色体三体。此外，有1例处于临界状态，11%的细胞检测到三个荧光信号呈阳性。需要利用我们中心以及其他实验室的更多标本进行进一步实验，以证实和扩展本研究的结果。
