CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Ewing sarcoma is the prototype of round cell sarcoma whereas in CIC sarcomas, focal pleomorphism and epithelioid morphology can predominate. 31802230 2020
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE FISH analysis showed significant CIC rearrangement enabling a final diagnosis of an undifferentiated small round cell sarcoma harboring the t(4;19)(q35;q13.1) and CIC-DUX4 fusion. 30989672 2019
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Differential diagnoses such as rhabdomyosarcoma, desmoplastic small round blue cell tumor, hematolymphoid neoplasm, neuroblastoma, and CIC-DUX round cell sarcoma were ruled out based on immunohistochemistry, genetic studies, and histology. 30067549 2018
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE NUTM2A-CIC fusion small round cell sarcoma: a genetically distinct variant of CIC-rearranged sarcoma. 28188754 2017
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Primary CIC-DUX4 round cell sarcoma of the kidney: A treatment-refractory tumor with poor outcome. 27919577 2017
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE CIC is also involved in chromosomal translocation-associated gene fusions in highly aggressive small round cell sarcoma that is biologically and clinically distinct from Ewing sarcoma. 28985030 2017
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE No Ewing sarcoma or other sarcoma tested showed coexpression of these transcripts, while one ETV1/ETV4/ETV5 triple positive previously unclassified round cell sarcoma was identified as harbouring a CIC rearrangement by break-apart fluorescence in-situ hybridization (FISH). 27790742 2017
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Thus, we made a final pathological diagnosis of t(10;19) CIC-DUX4-positive undifferentiated small round cell sarcoma. 28645808 2017
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE Round cell sarcoma with CIC-DUX4 gene fusion: Discussion of the distinctive cytomorphologic, immunohistochemical, and molecular features in the differential diagnosis of round cell tumors. 26800124 2016
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Among these is a rare round-cell sarcoma that harbors a CIC gene rearrangement known as CIC-rearranged undifferentiated round-cell sarcoma, which is most commonly fused to the DUX4 gene. 27562494 2016
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE A case report of CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum. 27324529 2016
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas. 26135561 2015
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma. 25007147 2014
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 GeneticVariation disease BEFREE Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 fusion: a novel highly aggressive soft tissue tumor with distinctive histopathology. 23887164 2013
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
0.100 Biomarker disease BEFREE Although additional cases with more extensive follow-up studies are needed, we believe that EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion should be added to the list of new sarcoma variants with the possibility of lymph node metastasis. 24213312 2013