Ozisik Y Y, Meloni A M, Peier A, Altungoz O, Spanier S S, Zalupski M M, Leong S P, Sandberg A A
Cancer Center of Southwest Biomedical Research Institute and Genetrix, Inc., Scottsdale, Arizona 85251.
Cancer. 1994 Oct 15;74(8):2268-75. doi: 10.1002/1097-0142(19941015)74:8<2268::aid-cncr2820740810>3.0.co;2-5.
The majority of karyotypes observed in osteosarcomas (OS) and chondrosarcomas (CS) are complex. Specific chromosomal abnormalities have not yet been characterized in either tumor except for a ring chromosome in parosteal OS. The purpose of this study was to determine recurrent chromosomal abnormalities and establish a possible correlation between the cytogenetic changes and the pathologic findings.
Ten OS and nine CS were cytogenetically analyzed. Tumor samples were obtained from patients having a resection or incisional biopsy. Cytogenetic study of short term cell cultures included harvesting and G-banding, which were performed by routine methodologies.
Clonal abnormalities were observed in six OS and six CS. Modal chromosome numbers ranged from near diploid to near tetraploid in both types of tumors. The structural rearrangements observed in OS involved mostly chromosomes 1, 2, 6, 12, and 17. Nonreciprocal translocations were the most frequent event. Two OS had a single clonal abnormality involving 11p15 and 14q32, respectively. Double minute chromosomes were observed in three cases. In CS, the most frequent structural abnormalities were nonreciprocal translocations and deletions involving numerous chromosomes. Rearrangements of 1p together with other abnormalities were observed in four CS.
The karyotypes were usually complex consisting of numerical and structural changes, particularly in high grade tumors. Rearrangements of 11p15 and 14q32 in OS and possibly 1p in CS were found as primary cytogenetic aberrations. Cytogenetic analysis in more cases of OS and CS together with molecular studies are necessary to characterize further the consistent genetic changes in these tumors.
骨肉瘤（OS）和软骨肉瘤（CS）中观察到的大多数核型都很复杂。除骨旁骨肉瘤中的一条环状染色体外，这两种肿瘤中尚未明确特定的染色体异常。本研究的目的是确定复发性染色体异常，并建立细胞遗传学变化与病理结果之间的可能关联。
对10例骨肉瘤和9例软骨肉瘤进行细胞遗传学分析。肿瘤样本取自接受切除或切开活检的患者。短期细胞培养的细胞遗传学研究包括收获和G显带，均采用常规方法进行。
在6例骨肉瘤和6例软骨肉瘤中观察到克隆性异常。两种类型肿瘤的众数染色体数范围从近二倍体到近四倍体。骨肉瘤中观察到的结构重排主要涉及1、2、6、12和17号染色体。非相互易位是最常见的事件。2例骨肉瘤分别有一个涉及11p15和14q32的单一克隆性异常。3例中观察到双微体染色体。在软骨肉瘤中，最常见的结构异常是非相互易位和涉及多条染色体的缺失。4例软骨肉瘤中观察到1p重排及其他异常。
核型通常很复杂，包括数目和结构变化，尤其是在高级别肿瘤中。发现骨肉瘤中的11p15和14q32重排以及软骨肉瘤中可能的1p重排为原发性细胞遗传学畸变。需要对更多的骨肉瘤和软骨肉瘤病例进行细胞遗传学分析以及分子研究，以进一步明确这些肿瘤中一致的基因变化。
