Sawyer J R, Roloson G J, Bell J M, Thomas J R, Teo C, Chadduck W M
Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, USA.
Cancer Genet Cytogenet. 1996 Aug;90(1):1-13. doi: 10.1016/0165-4608(96)00058-1.
Telomeric association (tas) is a cytogenetic phenomenon in which chromosome ends fuse to form dicentric, multicentric, and ring chromosomes. We observed clonal tas in six pediatric solid tumors of various types and histological grades studied using short-term in situ culture and G-banding techniques. These tumors included a neurilemoma, an undifferentiated (embryonal) sarcoma of the liver (UESL), two anaplastic astrocytomas (AA), one case of glioblastoma multiforme (GBM), and a neuroblastoma (NB) of the kidney. Cytogenetic data from all six tumors demonstrated multiple numerical and structural aberrations including tas. The tas appeared to be a secondary aberration in these tumors, however, it was possible to follow the progression of the telomeric chromosome aberrations in several cases. In all but one case (UESL) the loss of chromosome segments occurred. Tas of 11p was observed in three of the six tumors, two of which showed the subsequent loss of 11p (AA and AB). In addition, tas of 4p was seen in three tumors, two of which showed clonal tas of 4p with 22q. Tas of 10p, 21p, and 22q were all observed in at least two different tumors. The clonal telomeric fusions of 4p with 22q, recurring tas of 11p, and the subsequent loss of the short arm of 11 demonstrated here, suggests that some chromosome regions are subject to nonrandom instability and sometimes loss.
端粒联合（tas）是一种细胞遗传学现象，其中染色体末端融合形成双着丝粒、多着丝粒和环状染色体。我们使用短期原位培养和G显带技术，在研究的六种不同类型和组织学分级的小儿实体瘤中观察到克隆性tas。这些肿瘤包括1例神经鞘瘤、1例肝脏未分化（胚胎性）肉瘤（UESL）、2例间变性星形细胞瘤（AA）、1例多形性胶质母细胞瘤（GBM）和1例肾母细胞瘤（NB）。来自所有六种肿瘤的细胞遗传学数据显示出包括tas在内的多种数目和结构畸变。然而，tas在这些肿瘤中似乎是一种继发性畸变，但在几例病例中可以追踪端粒染色体畸变的进展。除1例（UESL）外，所有病例均发生了染色体片段缺失。在六种肿瘤中的三种中观察到11p的tas，其中两种随后出现了11p缺失（AA和AB）。此外，在三种肿瘤中观察到4p的tas，其中两种显示4p与22q的克隆性tas。在至少两种不同肿瘤中均观察到10p、21p和22q的tas。此处显示的4p与22q的克隆性端粒融合、11p的复发性tas以及随后11号染色体短臂的缺失，表明某些染色体区域存在非随机不稳定性，有时还会发生缺失。
