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伴有t(x;18)的滑膜肉瘤中的非随机继发性染色体畸变

Nonrandom secondary chromosome-aberrations in synovial sarcomas with t(x-18).

作者信息

Mandahl N, Limon J, Mertens F, Nedoszytko B, Gibas Z, Denis A, Willen H, Rydholm A, Szadowska A, Kreicbergs A, Rys J, Debiecrychter M, Mitelman F

机构信息

UNIV LUND HOSP,DEPT CLIN PATHOL,S-22185 LUND,SWEDEN. UNIV LUND HOSP,DEPT ORTHOPED SURG,S-22185 LUND,SWEDEN. MED UNIV GDANSK,DEPT BIOL & GENET,GDANSK,POLAND. ST MARYS HOSP,DEPT PATHOL,NEWTON LONGHORNE,PA. KAROLINSKA HOSP,DEPT ORTHOPED,TUMOR SERV,STOCKHOLM,SWEDEN. MED UNIV LODZ,DEPT ONCOL,LODZ,POLAND. CTR ONCOL,KRAKOW,POLAND.

出版信息

Int J Oncol. 1995 Sep;7(3):495-9. doi: 10.3892/ijo.7.3.495.

DOI:10.3892/ijo.7.3.495
PMID:21552865
Abstract

Thirty samples from 19 patients with synovial sarcoma were analyzed cytogenetically after short-term culturing. Thirteen samples were from primary tumors, 11 from local recurrences, and six from distant metastases. All samples showed the characteristic aberration t(X;18)(p11;q11) or variants thereof; 23 samples had additional numerical and/or structural changes. Including the present cases, chromosome aberrations have been reported in 74 synovial sarcomas, 50 of which have had secondary aberrations in addition to t(X;18). No secondary structural aberration was recurrent. The most common numerical changes were +7, +8, +12 (10 cases each), -3, +9, +21 (7 cases each), +2, -14, -17 (6 cases each), +4, -11, +15, and -22 (5 cases each). Unbalanced stuctural aberrations led to loss of 3p and 17p in six cases, each with loss of bands 3p21 and 17p13, respectively, in common. Most monosomies and trisomies seemed to occur at similar frequencies in primary, recurrent, and metastatic tumors. The only exceptions were +2, which was never seen in a primary tumor, and +8, which was never found in any metastatic lesion.

摘要

对19例滑膜肉瘤患者的30个样本进行短期培养后进行了细胞遗传学分析。13个样本来自原发性肿瘤,11个来自局部复发肿瘤,6个来自远处转移瘤。所有样本均显示出特征性畸变t(X;18)(p11;q11)或其变体;23个样本有额外的数目和/或结构改变。包括目前的病例在内,已有74例滑膜肉瘤报道了染色体畸变,其中50例除t(X;18)外还有继发性畸变。没有继发性结构畸变是重复性的。最常见的数目改变是+7、+8、+12(各10例)、-3、+9、+21(各7例)、+2、-14、-17(各6例)、+4、-11、+15和-22(各5例)。不平衡结构畸变导致6例出现3p和17p缺失,分别共同缺失3p21和17p13带。大多数单体和三体在原发性、复发性和转移性肿瘤中的出现频率似乎相似。唯一的例外是+2,在原发性肿瘤中从未见过,以及+8,在任何转移性病变中都从未发现过。

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