Genetic analyses of undifferentiated small round cell sarcoma identifies a novel sarcoma subtype with a recurrent CRTC1-SS18 gene fusion.
Genetic analyses of undifferentiated small round cell sarcoma identifies a novel sarcoma subtype with a recurrent CRTC1-SS18 gene fusion.
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DOI：
10.1002/path.5071
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发表时间：
2018-06
期刊：
影响因子：
--
通讯作者：
Latif F
中科院分区：
文献类型：
--
作者：
Alholle A;Karanian M;Brini AT;Morris MR;Kannappan V;Niada S;Niblett A;Ranchère-Vince D;Pissaloux D;Delfour C;Maran-Gonzalez A;Antonescu CR;Sumathi V;Tirode F;Latif F
近年来，未分化小圆细胞肉瘤（USRCS）被分为多种新的、罕见的肉瘤亚型，其中包括尤文样肉瘤组，其具有尤文肉瘤的形态外观，但携带CIC-DUX4、BCOR-CCNB3和其他不同于经典EWSR1-ETS的基因融合体。使用高通量RNA-seq分析，我们在两例缺乏任何已知易位的USRCS病例中发现了一种新的复发基因融合体CRTC1-SS18。 RNA-seq结果通过RT-PCR、长程PCR和FISH得到证实。在体外，我们发现表达基因融合的细胞在形态上是不同的，并且与对照细胞相比具有增强的致癌潜力。与其他肉瘤亚型肿瘤的表达谱比较表明，这两种病例都聚集在 EWSR1-CREB1 阳性肿瘤附近。此外，这些分析表明 CRTC1-SS18 阳性肿瘤中 NTRK1 表达增强。我们的结论是，本研究中发现的新型基因融合为 USRCS 添加了一种新的亚型，具有独特的基因特征，可能具有治疗相关性。
In recent years, undifferentiated small round cell sarcoma (USRCS) have been divided into a variety of new, rare, sarcoma subtypes including the group of Ewing-like sarcoma that has the morphological appearance of Ewing sarcoma but carries CIC-DUX4, BCOR-CCNB3 and other gene fusions different from the classical EWSR1-ETS. Using high-throughput RNA-seq analyses we identified a novel recurrent gene fusion, CRTC1-SS18, in two cases of USRCS that lacked any known translocation. RNA-seq results were confirmed by RT-PCR, long-range PCR and FISH. In vitro, we show that the cells expressing the gene fusion were morphologically distinct and demonstrated enhanced oncogenic potential compared to control cells. Expression profile comparisons with tumours of other sarcoma subtypes demonstrated that both cases clustered close to EWSR1-CREB1-positive tumours. Moreover, these analyses indicated an enhanced NTRK1 expression in CRTC1-SS18-positive tumours. We conclude that the novel gene fusion identified in this study adds a new subtype to the USRCS with unique gene signatures and maybe of therapeutic relevance.
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DOI：
10.1097/pas.0000000000000591
发表时间：
2016-04
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
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发表时间：
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影响因子：
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通讯作者：
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Ge, Huanying;Liu, Kejun;Hoeck, Wolfgang
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作者：
NORDKVIST, A;GUSTAFSSON, H;STENMAN, G
通讯作者：
STENMAN, G