CRTC1–SS18 Fusion Sarcoma With Aberrant Anaplastic Lymphoma Kinase Expression
CRTC1–SS18 Fusion Sarcoma With Aberrant Anaplastic Lymphoma Kinase Expression
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CRTC1-SS18 融合肉瘤伴有异常的间变性淋巴瘤激酶表达
DOI：
10.1177/10668969211021997
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发表时间：
2021-05
影响因子：
1.2
通讯作者：
Qiu Rao
中科院分区：
文献类型：
--
作者：
Rui Pan;Ziyu Wang;Xiaotong Wang;Ru Fang;Qiuyuan Xia;Qiu Rao
未分化小圆细胞肉瘤（USRCS）是一组高度异质性的肿瘤。已报道USRCS存在多种特异性基因融合，包括CIC - FOXO4、CIC - NUTM1、BCOR - MAML3和ZC3H7B - BCOR。在此我们报道一例具有罕见复发性CRTC1 - SS18基因融合的肉瘤病例，此前它被视为USRCS。该肉瘤由被纤维间质包绕的小圆细胞巢组成。在肿瘤中观察到坏死和出血灶。间变性淋巴瘤激酶免疫组化呈弥漫阳性。RNA测序结果显示19号染色体上的CRTC1基因外显子1与18号染色体上的SS18基因外显子2发生染色体易位。随后，荧光原位杂交证实存在SS18基因和CRTC1基因分离，表现为红色和绿色信号分裂为两部分。先前的一项研究表明，CRTC1 - SS18融合肉瘤和EWSR1 - CREB1融合的血管瘤样纤维组织细胞瘤在表达谱上聚类相近。然而，CRTC1 - SS18融合肉瘤是否具有高度恶性一直存在争议。我们的研究是对肉瘤相关罕见重排系列的有价值补充，可能具有治疗相关性。
Undifferentiated small round cell sarcoma (USRCS) represents a highly heterogeneous group of tumors. A variety of specific gene fusions of USRCS have been reported, including CIC–FOXO4, CIC–NUTM1, BCOR–MAML3, and ZC3H7B–BCOR. Here we report a case of sarcoma harboring a rare recurrent CRTC1–SS18 gene fusion, which was considered as USRCS previously. This sarcoma was composed of nests of small round cells encapsulated in a fibrous stroma. Foci of necrosis and hemorrhage were observed in the tumor. Immunohistochemistry for anaplastic lymphoma kinase showed diffuse positivity. RNA-seq results revealed a chromosomal translocation of CRTC1 gene exon 1 on chromosome 19 with SS18 gene exon 2 on chromosome 18. Thereafter, fluorescence in-situ hybridization confirmed the presence of SS18 gene and CRTC1 gene break-apart, which manifested as the splitting of red and green signals into 2 parts. A previous study showed that CRTC1–SS18 fusion sarcoma and EWSR1–CREB1 fusion angiomatoid fibrous histiocytoma were clustered close in the expression profile. However, whether CRTC1–SS18 fusion sarcomas represent a high malignancy has been a matter of debate. Our study is a worthy addition to the series of rare rearrangements associated with sarcomas and may be of therapeutic relevance.
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新型的BCOR-MAML3和ZC3H7B-BCOR基因融合在未分化的小蓝色圆形细胞肉瘤中。
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：
Specht K;Zhang L;Sung YS;Nucci M;Dry S;Vaiyapuri S;Richter GH;Fletcher CD;Antonescu CR
通讯作者：
Antonescu CR
影响因子：
11.2
作者：
Yoshimoto T;Tanaka M;Homme M;Yamazaki Y;Takazawa Y;Antonescu CR;Nakamura T
通讯作者：
Nakamura T
影响因子：
7.5
作者：
Nakayama, Takahisa;Miyabe, Satoru;Inagaki, Hiroshi
通讯作者：
Inagaki, Hiroshi
DOI：
10.1073/pnas.1932773100
发表时间：
2003-10-14
影响因子：
11.1
作者：
Iourgenko, V;Zhang, WJ;Labow, MA
通讯作者：
Labow, MA
影响因子：
5.6
作者：
Cheah, Alison L.;Zou, Youran;Goldblum, John R.
通讯作者：
Goldblum, John R.