ヒト軟部腫瘍における染色体および遺伝子異常の解析

1996年，从几种软组织肿瘤的冰冻组织中提取的RNA，用RT-PCR方法检测了粘液样脂肪肉瘤中的TLS/FUS-CHOP和尤文家族肿瘤中的EWS-FLIl等特征融合基因的转录本。通过对福尔马林固定的石蜡包埋标本进行FISH分析，发现9例粘液样脂肪肉瘤中均检测到t(12；16)染色体易位，而在其他粘液样软组织肿瘤中均未发现t(12；16)染色体易位，提示FISH分析可用于区分粘液样脂肪肉瘤和其他粘液样软组织肿瘤。1997年，用福尔马林固定的石蜡包埋标本进行RT-PCR，在滑膜肉瘤、尤文/PNET家族肿瘤和粘液样脂肪肉瘤中分别检测到94%、87%和94%的融合基因转录本，表明石蜡包埋标本可以用于RT-PCR检测mRNA，该方法对软组织肿瘤的诊断具有一定的价值。用石蜡包埋的硬纤维样瘤标本进行FISH分析表明，有复发风险的硬纤维样瘤的一个亚群可能与8三体有关。1998年，从诊断有问题的肺滑膜肉瘤标本中用RT-PCR检测了SYT-SSX融合转录本，这表明该方法是诊断临床罕见的滑膜肉瘤的有力工具。采用石蜡包埋标本的RT-PCR方法，在73%的皮肤纤维肉瘤隆起病例中检测到COL1A1-PDGFB融合转录本。序列分析显示，COL1A1-PDGFB融合基因存在多个断裂点。在腹膜后粘液样脂肉瘤中，分子分析证实它们与高分化或去分化脂肪肉瘤密切相关，而不是普通的粘液样脂肉瘤。

In 1996, characteristic fusion gene transcripts including TLS/FUS-CHOP in myxoid liposarcoma and EWS-FLIl in Ewing family tumors were detected by RT-PCR using RNAs extracted from frozen tumor tissues of several kinds of soft tissue tumors. By FISH analysis using archival formalin-fixed, paraffin embeded tumor specimens, characteristic t(12 ; 16) chromosomal translocation was detected in all of nine myxoid liposarcomas and in none of other myxoid soft tissue tumors, suggesting that FISH analysis could be used to distinguish myxoid liposarcoma from other myxoid soft tissue tumors. In 1997, characteristic fusion gene transcripts were detectable in 94%, 87% and 94% of ynovial sarcomas, Ewing/PNET family tumors and myxoid liposarcomas, respectively, by RT-PCR using archival formalin-fixed, paraffin-embedded tumor specimens, suggesting that paraffin-embedded specimen could be used to detect mRNA by RT-PCR and the method was valuable for diagnosis of soft tissue tumors. FISH analysis using paraffin-embedded desmoid tumor specimens suggested that a subgroup of desmoid tumors at risk of recurrence might be associated with trisomy 8. In 1998, SYT-SSX fusion transcripts were detected by RT-PCR using parrafin-embedded specimens from synovial sarcomas in the lung, which had been problematic in their diagnosis, suggesting that this method was a powerful tool for diagnosis of clinically unusual cases of synovial sarcoma. Characteristic COL1A1-PDGFB fusion transcripts were detected in 73% of dermatofibrosarcomaprotuberans cases by RT-PCR using paraffin-embedded specimens. Sequence analysis revealed that several break points existed in the fusion genes of COLlA1-PDGFB.In retroperitoneal myxoid liposarcomas histologically resembling myxoid variant of MFH, molecular analysis confirmed that they were closely related to well-differentiated or dedifferentiated liposarcomas rather than ordinary myxoid liposarcoma.