Mao X
West China Branch of CAMS, Chengdu.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1994 Apr;16(2):84-92.
Molecular cytogenetic studies of 25 cases of soft tissue tumors, including 8 malignant fibrous histiocytomas (MFH), 13 rhabdomyosarcomas (RMS), 3 Ewing's sarcomas (ES) and 1 synovial sarcoma (SS), were performed. Chromosomal analysis showed that of 17 analyzable cases, 15 had chromosomal numerical and structural abnormalities. In RMS, ES and SS consistent chromosomal abnormalities, t(2;13) (q37;q14), t(11;22) (q24;q12) and t(X;18) (p11;q11), respectively, were found, and the remaining 2 had normal karyotypes. Southern blot analysis demonstrated that in 14 cases with matched normal (N) and tumor tissue (T) DNA (5 MFH, 6 RMS, 2 ES, 1 SS), RFLPs changes including loss of allele, partial gene deletion, rearrangement and amplication had occurred at 8 loci (D1S57, D2S44, MYL1-3, D2S3, D13S1, D13S30, ESD and D17S5, respectively). Among these loci, gene changes on D1S57 and D2S44 were found to be shared by MFH, RMS, ES and SS, and D17S5, D2S3 and ESD abnormalities were shared by MFH, ES and SS, as well as by MFH and RMS. These results suggest that a multilocus and multistep process may be involved in the carcinogenesis of MFH, RMS, ES and SS.
对25例软组织肿瘤进行了分子细胞遗传学研究，其中包括8例恶性纤维组织细胞瘤（MFH）、13例横纹肌肉瘤（RMS）、3例尤因肉瘤（ES）和1例滑膜肉瘤（SS）。染色体分析显示，在17例可分析的病例中，15例存在染色体数目和结构异常。在RMS、ES和SS中分别发现了一致的染色体异常，即t(2;13)(q37;q14)、t(11;22)(q24;q12)和t(X;18)(p11;q11)，其余2例核型正常。Southern印迹分析表明，在14例具有匹配的正常（N）和肿瘤组织（T）DNA的病例中（5例MFH、6例RMS、2例ES、1例SS），在8个位点（分别为D1S57、D2S44、MYL1 - 3、D2S3、D13S1、D13S30、ESD和D17S5）发生了限制性片段长度多态性（RFLP）变化，包括等位基因丢失、部分基因缺失、重排和扩增。在这些位点中，发现MFH、RMS、ES和SS共有D1S57和D2S44的基因变化，MFH、ES和SS以及MFH和RMS共有D17S5、D2S3和ESD异常。这些结果表明，多基因座和多步骤过程可能参与了MFH、RMS、ES和SS的致癌作用。
