CRTC1–SS18 Fusion Sarcoma With Aberrant Anaplastic Lymphoma Kinase Expression
| العنوان: | CRTC1–SS18 Fusion Sarcoma With Aberrant Anaplastic Lymphoma Kinase Expression |
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| المؤلفون: | Qiu-Yuan Xia, Xiaotong Wang, Rui Pan, Ru Fang, Zi-yu Wang, Qiu Rao |
| المصدر: | International Journal of Surgical Pathology. 30:99-105 |
| بيانات النشر: | SAGE Publications, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Angiomatoid fibrous histiocytoma, Biology, medicine.disease, Synovial sarcoma, Pathology and Forensic Medicine, Fusion gene, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Chromosome 18, 030220 oncology & carcinogenesis, Chromosome 19, medicine, Cancer research, Anaplastic lymphoma kinase, Surgery, Sarcoma, Anatomy |
| الوصف: | 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. |
| تدمد: | 1940-2465 1066-8969 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::459d8968e06921b367e6fcf35104ef25 https://doi.org/10.1177/10668969211021997 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........459d8968e06921b367e6fcf35104ef25 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19402465 10668969 |
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