Magnani I, Faustinella F, Nanni P, Nicoletti G, Larizza L
Department of Biology and Genetics, Faculty of Medicine, University of Milan, Italy.
Cancer Genet Cytogenet. 1991 Jul 1;54(1):83-9. doi: 10.1016/0165-4608(91)90034-r.
Chromosomal analysis of an advanced recurrent rhabdomyosarcoma of the embryonal type was performed on cell cultures in the 9th passage of in vitro cultivation. This tumor showed a modal karyotype of 54 and was characterized by multiple numerical and structural chromosome abnormalities, all present in high frequencies. Abnormalities observed in 100% of the cells included a der(1) chromosome with a short unidentified insertion between q31 and q32; a der(1) chromosome, arising from insertion at the same breakpoint of a longer segment with a duplicated 1q31 band and translocation of 13q23----qter to 1p36, a deleted tetrasomic 13q23----qter, and a der(4) chromosome showing 1p36----pter translocated to 4p13. Other common abnormalities included trisomy of chromosomes 8, 13, and 9p, deletions of chromosomes 6, 10, 11, and 12, and presence of marker chromosomes. Characterization of the established line at the 38th passage evidenced the persistence of both the modal karyotype and all the numerical and structural abnormalities previously found. The results of this study provide further evidence of the major involvement of alterations in chromosome 1 in the progression of rhabdomyosarcoma.
对体外培养第9代的细胞培养物进行了胚胎型晚期复发性横纹肌肉瘤的染色体分析。该肿瘤的众数核型为54,其特征是存在多种数量和结构染色体异常,且出现频率均很高。在100%的细胞中观察到的异常包括一条der(1)染色体,在q31和q32之间有一个短的未确定插入片段;一条der(1)染色体,由在同一断点插入一个较长片段产生,该片段有一个重复的1q31带以及13q23----qter易位至1p36,一条缺失的四体性13q23----qter,以及一条der(4)染色体,显示1p36----pter易位至4p13。其他常见异常包括8号、13号染色体和9p三体性,6号、10号、11号和12号染色体缺失,以及存在标记染色体。在第38代对已建立的细胞系进行的特征分析证明了众数核型以及先前发现的所有数量和结构异常均持续存在。本研究结果进一步证明了1号染色体改变在横纹肌肉瘤进展中的主要作用。