Detection of TLS/FUS-CHOP fusion transcripts in myxoid and round cell liposarcomas by nested reverse transcription polymerase chain reaction using archival paraffin-embedded tissues
Detection of TLS/FUS-CHOP fusion transcripts in myxoid and round cell liposarcomas by nested reverse transcription polymerase chain reaction using archival paraffin-embedded tissues
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DOI：
10.1097/00019606-199804000-00006
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发表时间：
1998-04-01
影响因子：
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通讯作者：
Ushijima, M
中科院分区：
文献类型：
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作者：
Hisaoka, M;Tsuji, S;Ushijima, M
相互易位 t(12,16)(q13:p11) 已被证明是脂肪肉瘤粘液样和圆形细胞亚型的高度特征，由易位产生的 TLS/FUS-CHOP 融合基因有望成为这些肉瘤的诊断分子标记。在这项研究中，我们进行了基于巢式逆转录聚合酶链反应 (RT-PCR) 的测定，使用档案福尔马林固定、石蜡包埋的肿瘤标本来检测 TLS/FUS-CHOP 融合基因转录本。在来自 16 例粘液样和圆形细胞脂肪肉瘤病例的 18 份石蜡包埋标本中，可以在 15 例 (94%) 病例的 16 份 (89%) 标本中鉴定出融合转录本。使用 PCR 产物进行的序列分析证实，检测到的信息缺乏 I 型或 LT TLS/FLiS-CHOP 融合基因，其中后者占主导地位（80%）。在同一患者的原发性和复发性病变以及同一肿瘤的石蜡包埋和速冻样本中，结果是一致的。在 mio 阴性样本中，RT-PCR 无法检测到 p-肌动蛋白基因的转录本，并且包括融合信息在内的完整 mRNA 可能已被降解。在具有粘液样形态的其他类型肿瘤的速冻或石蜡包埋材料中未检测到融合转录物（七种粘液样恶性纤维组织细胞瘤和四种具有粘液样改变的脂肪瘤）。这些结果表明，该分子测定可应用于福尔马林固定、石蜡包埋的肿瘤组织，作为这些脂肪肉瘤亚型的诊断辅助。
The reciprocal translocation t(12,16)(q13:p11) has been shown to be highly characteristic of myxoid and round cell subtypes of liposarcoma, and the TLS/FUS-CHOP fusion gene that resulted from the translocation is expected to be a diagnostic molecular marker of these sarcomas. Tn this study, we conducted a nested reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect the TLS/FUS-CHOP fusion gene transcripts using archival formalin-fixed, paraffin-embedded tumor specimens. Of 18 paraffin-embedded specimens from 16 myxoid and round cell liposarcoma cases, the fusion transcripts could be identified in 16 (89%) specimens from 15 (94 %) cases. A sequence analysis using the PCR products confirmed that the detected messages were deprived from either type I or type LT TLS/FLiS-CHOP fusion gene, the latter of which was predominant (80%). The results were consistent in primary and recurrent lesions of the same patients and in paraffin-embedded and snap-frozen samples from the same tumors. in mio negative specimens, transcripts of the p-actin gene could not be detected by RT-PCR, and intact mRNA including the fusion messages might have been degraded. No fusion transcripts were detected in snap-frozen or paraffin-embedded material of other types of tumors with myxoid morphology seven myxoid malignant fibrous histiocytomas and four lipomas with myxoid change). These results indicate that this molecular assay can be applied to formalin-fixed, paraffin-embedded tumor tissues as a diagnostic aid for these subtypes of liposarcoma.