ヒト軟部腫瘍における染色体および遺伝子異常の解析

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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.