Limon J, Mrozek K, Mandahl N, Nedoszytko B, Verhest A, Rys J, Niezabitowski A, Babinska M, Nosek H, Ochalek T
Department of Biology and Genetics, Medical Academy, Gdansk, Poland.
Genes Chromosomes Cancer. 1991 Sep;3(5):338-45. doi: 10.1002/gcc.2870030504.
Cytogenetic study of five biphasic and five monophasic synovial sarcomas revealed the specific abnormality t(X;18) (p11;q11) in eight cases and t(X;15;18) (p11;q15;q11) and t(X;7) (q11-12;q32) in one case each. Additional, secondary aberrations were present in eight of these tumors. By combining our data with information on previously published cytogenetically abnormal synovial sarcomas, we were able to evaluate 32 tumor samples from 29 patients. The modal chromosome number was pseudodiploid or near diploid in 26 of the 32 tumors. A t(X;18) was present in 21 of 29 cases (72%). Complex translocations involving chromosomes X and 18 and another autosome were present in five cases, and one displayed a t(5;18). There was no visible rearrangement of chromosome bands Xp11 or 18q11 in only 2 of the 32 synovial sarcomas. Half of the primary tumors (6 of 12) had the X;18-translocation as the sole abnormality. Of the remaining 20 specimens from recurrent or metastatic tumors (in three cases two tumors could be analyzed), only one had t(X;18) as the sole change. The secondary aberrations in cases exhibiting clonal evolution were also generally more extensive in the metastatic and recurrent than in the primary sarcomas (five additional aberrations per case, compared with two). Chromosomes 1 and 12 were the chromosomes most frequently (one fourth of the cases) involved in additional structural changes, but with several different breakpoints. No differences were identified between the karyotypic profiles of monophasic and biphasic synovial sarcomas.
对5例双相型和5例单相型滑膜肉瘤进行细胞遗传学研究，结果显示8例存在特异性异常t(X;18)(p11;q11)，1例各存在t(X;15;18)(p11;q15;q11)和t(X;7)(q11 - 12;q32)。另外，这些肿瘤中有8例存在额外的继发性畸变。通过将我们的数据与先前发表的细胞遗传学异常滑膜肉瘤的信息相结合，我们能够评估来自29例患者的32个肿瘤样本。32个肿瘤中有26个的众数染色体数为假二倍体或接近二倍体。29例中有21例(72%)存在t(X;18)。5例存在涉及X染色体、18号染色体和另一条常染色体的复杂易位，1例显示t(5;18)。32例滑膜肉瘤中只有2例未观察到Xp11或18q11染色体带的可见重排。一半的原发性肿瘤(12例中的6例)以X;18易位为唯一异常。在其余20个复发或转移肿瘤的标本中(3例可分析两个肿瘤)，只有1例以t(X;18)为唯一改变。在发生克隆进化的病例中，继发性畸变在转移瘤和复发瘤中通常也比原发性肉瘤更广泛(每例额外有5个畸变，而原发性肉瘤为2个)。1号和12号染色体是最常(四分之一的病例)涉及额外结构改变的染色体，但有几个不同的断点。单相型和双相型滑膜肉瘤的核型图谱之间未发现差异。
