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黏液样脂肪肉瘤中伴有EWS/CHOP融合的变异易位t(12;22)的更多证据:临床病理特征

Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features.

作者信息

Dal Cin P, Sciot R, Panagopoulos I, Aman P, Samson I, Mandahl N, Mitelman F, Van den Berghe H, Fletcher C D

机构信息

Centre for Human Genetics and Flanders Institute of Biotechnology, Leuven, Belgium.

出版信息

J Pathol. 1997 Aug;182(4):437-41. doi: 10.1002/(SICI)1096-9896(199708)182:4<437::AID-PATH882>3.0.CO;2-X.

Abstract

It is well established that the majority of myxoid/round cell liposarcomas (LPS) are characterized by a reciprocal translocation t(12;16)(q13;p11) which at the molecular level results infusion of the CHOP and FUS/TLS genes. It is assumed that functional characterization of these genes may provide insight into the molecular pathogenesis of this tumour type. This study describes two new cases of myxoid/round cell LPS having a t(12;22). By reverse transcription-polymerase chain reaction (RT-PCR) it has been shown that this leads to fusion between the CHOP and EWS genes, thus indicating involvement of the EWS gene, at least occasionally, in yet another sarcoma type. Combining these two cases with two others which were recently similarly characterized at the molecular level, their clinicopathological features have been compared with cases having the more usual t(12;16). It was not possible to identify any clinical or pathological differences between these molecular genetic subsets. The relevance or significance of these gene fusion products in myxoid/round cell LPS remains to be determined.

摘要

众所周知,大多数黏液样/圆形细胞脂肪肉瘤(LPS)的特征是存在相互易位t(12;16)(q13;p11),在分子水平上导致CHOP和FUS/TLS基因融合。据推测,这些基因的功能特性可能有助于深入了解这种肿瘤类型的分子发病机制。本研究描述了两例具有t(12;22)的黏液样/圆形细胞LPS新病例。通过逆转录-聚合酶链反应(RT-PCR)已表明,这导致CHOP和EWS基因融合,从而表明EWS基因至少偶尔会参与另一种肉瘤类型。将这两例病例与另外两例最近在分子水平上有类似特征的病例相结合,将它们的临床病理特征与具有更常见的t(12;16)的病例进行了比较。无法确定这些分子遗传亚组之间存在任何临床或病理差异。这些基因融合产物在黏液样/圆形细胞LPS中的相关性或意义仍有待确定。

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