Population-based analysis of chromosomal instabilities in bone and soft tissue sarcomas

16个日本尤文肿瘤用于比较基因组杂交分析染色体异常，11个肿瘤用于表达嵌合EWS转录本。日本患者的这些结果与欧洲组间合作尤因肉瘤研究中登记的62名欧洲高加索患者的ETS结果进行了比较。11个日本ETs中有10个和62个欧洲高加索ETs中有31个具有I型(EWS外显子7至FLI1外显子6)融合转录本。在日本ETS中，11例原发肿瘤和5例复发肿瘤的染色体畸变率的中位数分别为2.0和6.0。在欧洲高加索ETS中，52例原发肿瘤和10例复发肿瘤的中位数分别为2.5和5.0。在日本ETS中，经常上涨的是8q(38%)、8p(31%)和12q(25%)，在欧洲高加索ETS中是8q(52%)、8p(48%)和12q(19%)。日本ETS的频繁亏损为19 Q(44%)、19便士(38%)和17便士(25%)，欧洲高加索ETS为16 Q(21%)、19 Q(18%)和17便士(15%)。日本ET中19p(P=0.0215)和19q(P=0.0277)缺失的发生率明显高于欧洲高加索ET。14例滑膜肉瘤中，10例出现染色体异常。收益(4.4)比损失(0.9)更频繁。频发增加包括12q15(5例)、12q22(5例)、12q24.3(5例)，频发丢失3p14(2例)、6q(2例)。在12q15、12q22和12q24.3中观察到高水平的增益。12q15(p=0.021)和12q22(p=0.021)的增益在单相型比双相型更常见。3q32、4q26-qTER、5p、5q14-q23、11p的增强型和1p33-pTER、3p21、11q12、16p、17p、22q的缺失在欧洲较常见，12q15和12q22的增强型在日本较常见。

Sixteen Japanese Ewing tumors were available for analysis of chromosomal aberrations by comparative genomic hybridization and 11 tumors for expression of chimeric EWS transcripts. These results in Japanese patients were compared with those of 62 ETs in European Caucasian patients registered in the European Intergroup Cooperative Ewing's Sarcoma Study. Ten of 11 Japanese ETs and 31 of 62 European Caucasian ETs had type I (EWS exon 7 to FLI1 exon 6) fusion transcripts. In Japanese ETs, the median numbers of chromosomal aberrations were 2.0 and 6.0 in 11 primary tumors and five relapsed tumors, respectively. In European Caucasian ETs, the median number of changes were 2.5 and 5.0 in 52 primary and 10 relapsed tumors, respectively. Frequent gains were 8q (38%), 8p (31%) and 12q (25%) in Japanese ETs and 8q (52%), 8p (48%) and 12q (19%) in European Caucasian ETs. Frequent losses were 19q (44%), 19p (38%) and 17p (25%) in Japanese ETs and 16q (21%), 19q (18%) and 17p (15%) in European Caucasian ETs. The incidence of losses of 19p (P=0.0215) and 19q (P=0.0277) were significantly higher in Japanese ETs than in European Caucasian ETs.In 14 cases of synovial sarcoma, chromosomal aberrations were detected in 10 cases. Gain (4.4) was more frequent than loss (0.9). The frequent gain included in 12q15 (5 cases), 12q22 (5 cases), 12q24.3 (5 cases), the frequent losses existed in 3p14 (2 cases) and 6q (2 cases). High-level gain was observed in 12q15, 12q22, and 12q24.3. Gain of 12q15 (p=0.021) and 12q22 (p=0.021) were more frequent in monophasic type than in biphasic type. Gain of 3q32, 4q26-qter, 5p, 5q 14-q23, and 11p and loss of 1p33-pter, 3p21, 11q12, 16p, 17p, 22q were more frequently observed in European cases and gain of 12q 15 and 12q22 were frequent in Japanese cases.