Clinicopathological features of five cases of CIC::DUX4 positive sarcomas, including literature review

Rekhi, Bharat; Rumdee, Rachna; Shetty, Omshree

doi:10.1016/j.anndiagpath.2023.152153

Cited by 1 publication

(1 citation statement)

References 28 publications

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“…CIC -rearranged sarcomas most commonly harbor fusions involving the DUX4 gene creating a chimeric fusion, CIC::DUX4. The CIC::DUX4 fusion juxtaposes the DNA-binding domain of the Capicua ( CIC ) transcriptional repressor with the variable region of the double homeobox 4 ( DUX4 ) transcription factor via a t(4;19)(q35;q13) translocation (Italiano et al 2012 ; Rekhi et al 2023 ; Satomi et al 2022 ). This gene fusion removes the repressor function of CIC and instead promotes transcriptional activation of CIC downstream targets, such as the PEA3 gene subclass of ETS family proteins including ETV1, ETV4, and ETV5 (Choi et al 2013 ; Graham et al 2012 ; Italiano et al 2012 ; Kawamura-Saito et al 2006 ; Yoshida et al 2016 ).…”

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confidence: 99%

Clinical outcomes of patients with CIC-rearranged sarcoma: a single institution retrospective analysis

Murphy,

Resch,

Leland

et al. 2024

J Cancer Res Clin Oncol

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Purpose CIC-rearranged sarcomas represent a type of undifferentiated small round cell sarcoma (USRCS) characterized by poor survival, rapid development of chemotherapy resistance, and high rates of metastasis. We aim to contribute to the growing body of knowledge regarding diagnosis, treatment, clinical course, and outcomes for these patients. Methods This case series investigates the clinical courses of ten patients with CIC-rearranged sarcoma treated at the Johns Hopkins Hospital from July 2014 through January 2024. Clinical data were retrospectively extracted from electronic medical records. Results Patients ranged from 10 to 67 years of age at diagnosis, with seven patients presenting with localized disease and three with metastatic disease. Tumors originated from soft tissues of various anatomic locations. Mean overall survival (OS) was 22.1 months (10.6–52.2), and mean progression-free survival (PFS) was 16.7 months (5.3–52.2). Seven patients received intensive systemic therapy with an Ewing sarcoma-directed regimen or a soft tissue sarcoma-directed regimen. Three patients experienced prolonged disease-free survival without systemic treatment. Conclusion Most patients in this case series demonstrated aggressive clinical courses consistent with those previously described in the literature, although we note a spectrum of clinical outcomes not previously reported. The diversity of clinical courses underscores the need for an improved understanding of individual tumor biology to enhance clinical decision-making and patient prognosis. Despite its limitations, this article broadens the spectrum of reported clinical outcomes, providing a valuable addition to the published literature on this rare cancer.

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