Boghosian L, Dal Cin P, Turc-Carel C, Rao U, Karakousis C, Sait S J, Sandberg A A
Cancer Center of Southwest Biomedical Research Institute, Scottsdale, AZ 85251.
Cancer Genet Cytogenet. 1989 Nov;43(1):39-49. doi: 10.1016/0165-4608(89)90125-8.
Cytogenetic analysis was performed on short-term cultured tumor cells from ten patients diagnosed as having leiomyosarcoma. Of these, five tumors from five unrelated patients had clonal chromosome abnormalities. The combined data from this report and previous studies on leiomyosarcomas indicate that at least three subtypes may be identified chromosomally within leiomyosarcomas. One subtype is characterized by a hypodiploid chromosome number ranging from 41 to 43 and a common chromosome pattern of monosomies of chromosomes specific to this subgroup, including partial monosomy of the short arm of chromosome 1 (1p13----pter), monosomy 18, and consistent monosomy 22. In contrast to the previous subtype, for the pathogenesis of which the "tumor suppressor gene" hypothesis may be suggested, another subtype was characterized by a pseudodiploid chromosome number associated with simple reciprocal translocations; so far, these translocations are unique to individual tumors, the pathogenesis of which may involve a translocation-mediated gene deregulation pathway. A third subtype contained tumors with heterogeneous karyotypic findings.
对10例诊断为平滑肌肉瘤患者的短期培养肿瘤细胞进行了细胞遗传学分析。其中，来自5例不相关患者的5个肿瘤具有克隆性染色体异常。本报告及先前关于平滑肌肉瘤的研究综合数据表明，平滑肌肉瘤在染色体水平上至少可分为三种亚型。一种亚型的特征是亚二倍体染色体数为41至43，且该亚组特有的染色体存在常见的单体模式，包括1号染色体短臂（1p13----pter）部分单体、18号单体和持续的22号单体。与前一种亚型不同，对于前一种亚型的发病机制可能提示“肿瘤抑制基因”假说，另一种亚型的特征是假二倍体染色体数伴有简单的相互易位；到目前为止，这些易位是个别肿瘤所特有的，其发病机制可能涉及易位介导的基因失调途径。第三种亚型包含核型结果异质性的肿瘤。
