Sreekantaiah C, Davis J R, Sandberg A A
Memorial Sloan-Kettering Institute, Laboratory of Genetics and Cancer Genetics, New York.
Am J Pathol. 1993 Jan;142(1):293-305.
Thirty-eight tumors from 30 patients diagnosed as leiomyosarcoma were cytogenetically assessed after short term culture. The specimens were obtained from the retroperitoneum, gastrointestinal tract, and extremities. Chromosomal abnormalities were present in 18 tumors from 13 patients; 15 tumors had clonal changes, whereas 3 tumors had numerous nonclonal changes. Ten tumors from 10 patients had normal karyotypes and no results were obtained in 10 other tumors from 7 patients. Of the tumors with clonal chromosomal aberrations, 4 had near-diploid (3 hypo- and one hyperdiploid) modes, 8 were polyploid, and 3 were bimodal. No specific karyotypic change appeared to characterize the leiomyosarcomas, although involvement of some chromosomes appeared more frequent than others. A comparison of our findings with those reported in the literature revealed certain consistent structural rearrangements involving chromosomes 1, 7, 10, 13, and 14 at bands 1p36, 1p32, 1p13, 1q32, 7p11.1-p21, 7q32, 10q22, 13q14, and 14p11, respectively. Other bands less frequently rearranged were 3p13-p22, 3q21, 4q13-q23, 6q15-q21, 7q11.2-q22, 12q13-q14, 17q12-q25, 19q13.3-q13.4, and 20q12-q13.1. Numerical changes included recurrent loss of chromosomes 4, 9, 14, 15, 16, 18, 21, and 22. Identification of the abnormalities of these chromosomes is important in that it may predict the existence of oncogenes, tumor suppressor genes, and/or growth factor genes at these sites. Subsequent molecular analysis might then lead to the identification of the genes involved and ultimately to a better understanding of the pathogenesis of leiomyosarcomas.
对30例诊断为平滑肌肉瘤患者的38个肿瘤进行了短期培养后的细胞遗传学评估。标本取自腹膜后、胃肠道和四肢。13例患者的18个肿瘤存在染色体异常;15个肿瘤有克隆性改变,而3个肿瘤有大量非克隆性改变。10例患者的10个肿瘤核型正常,7例患者的另外10个肿瘤未得出结果。在有克隆性染色体畸变的肿瘤中,4个为近二倍体(3个亚二倍体和1个超二倍体)模式,8个为多倍体,3个为双峰模式。虽然某些染色体的受累似乎比其他染色体更频繁,但没有特定的核型变化似乎能表征平滑肌肉瘤。将我们的研究结果与文献报道的结果进行比较,发现某些一致的结构重排分别涉及1号、7号、10号、13号和14号染色体的1p36、1p32、1p13、1q32、7p11.1-p21、7q32、10q22、13q14和14p11带。其他较少重排的带为3p13-p22、3q21、4q13-q23、6q15-q21、7q11.2-q22、12q13-q14、17q12-q25、19q13.3-q13.4和20q12-q13.1。数量变化包括4号、9号、14号、15号、16号、18号、21号和22号染色体的反复丢失。识别这些染色体的异常很重要,因为这可能预测这些位点上癌基因、肿瘤抑制基因和/或生长因子基因的存在。随后的分子分析可能会导致识别相关基因,并最终更好地理解平滑肌肉瘤的发病机制。