Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2023 Jul;12(13):14346-14359.
doi: 10.1002/cam4.6113. Epub 2023 May 22.

Clinical characteristics and outcomes for children, adolescents and young adults with "CIC-fused" or "BCOR-rearranged" soft tissue sarcomas: A multi-institutional European retrospective analysis

Monika Sparber-Sauer  1   2 , Nadège Corradini  3 , Maria Carmen Affinita  4 , Giuseppe Maria Milano  5 , Gaelle Pierron  6 , Matthieu Carton  7 , Franck Tirode  8   9 , Daniel Pissaloux  8   9 , Rita Alaggio  10 , Christian Vokuhl  11 , Gianni Bisogno  4 , Pablo Berlanga  12 , Andrea Ferrari  13 , Daniel Orbach  14
Affiliations
Multicenter Study

Clinical characteristics and outcomes for children, adolescents and young adults with "CIC-fused" or "BCOR-rearranged" soft tissue sarcomas: A multi-institutional European retrospective analysis

Monika Sparber-Sauer et al. Cancer Med. 2023 Jul.

Abstract

Background: In certain rare undifferentiated small round cell sarcomas new specific molecular CIC-DUX4/other partner, BCOR-CCNB3/other partner, YWHAE fusions, or BCOR-ITD (internal tandem duplication) were identified. These new "CIC fused" (CIC-fused/ATXN1::NUTM1) and "BCOR rearranged" (BCOR fused/ITD/ YWHAE) soft tissue sarcomas (STS) are not well described.

Methods: Multi-institutional European retrospective analysis of young patients (0-24 years) with CIC-fused and BCOR rearranged STS.

Results: Overall, out of the 60 patients selected, the fusion status was CIC-fused (n = 29), ATXN1::NUTM1 (n = 2), BCOR::CCNB3 (n = 18), BCOR-ITD (n = 7), and YWHAE (n = 3), MAML::BCOR STS (n = 1). The main primaries were abdomen-pelvic (n = 23) and limbs (n = 18). Median age was 14 years (0.9-23.8) and 0.9 (0.1-19.1) for CIC-fused and BCOR-rearranged groups, respectively (n = 29; p < 0.001). IRS stages were I (n = 3), II (n = 7), III (n = 35), and IV (n = 15). Overall, 42 patients had large tumors (>5 cm) but only six had lymph node involvement. Patients received mainly chemotherapy (n = 57), local surgery (n = 50), and/or radiotherapy (n = 34). After a median follow-up of 47.1 months (range, 3.4-230), 33 (52%) patients had an event and 23 patients died. Three-year event-free survivals were 44.0% (95% CI 28.7-67.5) and 41.2% (95% CI 25.4-67.0) for CIC and BCOR groups (p = 0.97), respectively. Three-year overall survivals were 46.3% (95% CI 29.6-72.4) and 67.1% (95% CI 50.4-89.3; p = 0.24), respectively.

Conclusions: Pediatric patients often present with large tumors and metastatic disease, especially CIC sarcomas. Overall outcome is dismal. New treatment options are needed.

Keywords: BCOR rearrangement; CIC-DUX fusion transcript; YWHAE fusion transcript; pediatric/adolescent oncology; soft tissue sarcoma.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

FIGURE 1
FIGURE 1
Kaplan–Meier estimates presenting EFS of 60 patients with CIC‐fused sarcoma (n = 31) and BCOR rearranged sarcoma (n = 29).
FIGURE 2
FIGURE 2
Kaplan–Meier estimates presenting OS of 60 patients with CIC‐fused sarcoma (n = 31) and BCOR rearranged sarcoma (n = 29).
See this image and copyright information in PMC

References

    1. Gajdzis P, Pierron G, Klijanienko J. Cytology of undifferentiated round‐cell sarcomas of bone and soft tissue: Ewing sarcoma or not Ewing sarcoma, that is the question. Acta Cytol. 2022;66(4):295‐306. - PubMed
    1. Yoshimoto T, Tanaka M, Homme M, et al. CIC‐DUX4 induces small round cell sarcomas distinct from Ewing sarcoma. Cancer Res. 2017;77(11):2927‐2937. - PMC - PubMed
    1. Brčić I, Brodowicz T, Cerroni L, et al. Undifferentiated round cell sarcomas with CIC‐DUX4 gene fusion: expanding the clinical spectrum. Pathology. 2020;52(2):236‐242. - PubMed
    1. Machado I, Navarro S, Llombart‐Bosch A. Ewing sarcoma and the new emerging Ewing‐like sarcomas: (CIC and BCOR‐rearranged‐sarcomas). A systematic review. Histol Histopathol. 2016;31(11):1169‐1181. - PubMed
    1. Cidre‐Aranaz F, Watson S, Amatruda JF, et al. Small round cell sarcomas. Nat Rev Dis Primers. 2022;8(1):66. - PubMed

Publication types