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Updated: Feb 14, 2026

In vitro Methylation Assay to Study Protein Arginine Methylation
Published on: October 5, 2014
Clinicopathological features of CIC-rearranged sarcomas: a retrospective study including novel visceral locations and
Jan Balko1, Filip Kukla2, Lenka Krskova1
1Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University, Motol and Homolka University Hospital, Prague, Czech Republic.
Abstract:
CIC-rearranged sarcomas represent a distinct rare pathological entity within the spectrum of undifferentiated small round cell sarcomas. This single institution retrospective study investigates the histopathological, molecular, and clinical characteristics of a cohort of 14 CIC-rearranged sarcomas. These tumors were diagnosed in eight male and six female patients, with the age at initial diagnosis ranging from 8 to 67 years and a mean age of 23.7 years. Among the patients, three novel locations of CIC::DUX4 sarcomas were detected in the mesentery, pancreas, and pterygopalatine fossa. Genetically, we identified 12 cases as CIC::DUX4 sarcomas and two as sarcomas with CIC gene rearrangement detected by break-apart fluorescence in situ hybridization only. The most common gene translocation had a breakpoint located in exon 20 of the CIC gene and exon 1 of the DUX4 gene; this alteration was found in 83% of all CIC::DUX4 cases we identified. We also performed DNA methylation analysis on seven cases, which was proven to be a reliable method with high sensitivity for clustering CIC-rearranged sarcomas.
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