Nishio Jun, Iwasaki Hiroshi, Ishiguro Masako, Ohjimi Yuko, Isayama Teruto, Naito Masatoshi, Kaneko Yasuhiko, Kamada Nanao, Kikuchi Masahiro
Department of Pathology, School of Medicine, Fukuoka University, Fukuoka, Japan.
Cancer Genet Cytogenet. 2002 Aug;137(1):23-8. doi: 10.1016/s0165-4608(02)00550-2.
A consistent, pathognomonic translocation, most commonly a balanced reciprocal translocation, t(X;18) (p11.2;q11.2), is found in more than 90% of synovial sarcomas. We report here a secondary chromosome change, der(22)t(17;22)(q12;q12), in addition to the primary t(X;18)(p11.2;q11.2) in a biphasic synovial sarcoma that occurred in the thigh of a 34-year-old woman. Although the karyotype of the primary tumor exhibited 46,X,t(X;18)(p11.2;q11.2), the recurrent tumor showed 46,X,der(X)t(X;18)(p11.2;q11.2),der(22) t(17;22)(q12;q12). The SYT-SSX1 fusion transcript was demonstrated in the primary and recurrent tumors using a reverse transcriptase polymerase chain reaction (RT-PCR). Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. However, we could not detect the EWS-E1AF fusion gene that has been reported to be generated through a t(17;22)(q12;q12) by RT-PCR. Furthermore, fluorescence in situ hybridization (FISH) with cosmid probes corresponding to loci flanking the EWSR1 region demonstrated no split of chromosome 22 in all analyzed interphase nuclei. To our knowledge, this is the first reported case of synovial sarcoma in which an additional (secondary) chromosome change, der(22)t(17;22)(q12;q12), has been demonstrated.
在90%以上的滑膜肉瘤中可发现一种一致的、具有病理诊断意义的易位，最常见的是平衡相互易位t(X;18)(p11.2;q11.2)。我们在此报告1例发生于一名34岁女性大腿的双相滑膜肉瘤，除了原发性t(X;18)(p11.2;q11.2)外，还存在继发性染色体改变der(22)t(17;22)(q12;q12)。尽管原发性肿瘤的核型显示为46,X,t(X;18)(p11.2;q11.2)，但复发性肿瘤显示为46,X,der(X)t(X;18)(p11.2;q11.2),der(22)t(17;22)(q12;q12)。使用逆转录聚合酶链反应（RT-PCR）在原发性和复发性肿瘤中均检测到SYT-SSX1融合转录本。Southern印迹分析也证实检测到的信息源自SYT-SSX融合基因。然而，我们通过RT-PCR未能检测到据报道通过t(17;22)(q12;q12)产生的EWS-E1AF融合基因。此外，使用与EWSR1区域侧翼位点对应的黏粒探针进行荧光原位杂交（FISH），在所有分析的间期核中均未显示22号染色体的分裂。据我们所知，这是首次报道的滑膜肉瘤病例，其中显示出额外的（继发性）染色体改变der(22)t(17;22)(q12;q
