CIC-DUX4 rearranged uterine cervix round-cell sarcoma exhibiting near-complete pathologic response following radiation and neoadjuvant chemotherapy: A case report

Vieira, Aline Cristini; Xavier, Camila Bragança; Vieira, Thiago Dieb Ristum; Carvalho, Filomena Marino; Scaranti, Mariana; Munhoz, Rodrigo Ramela; Carvalho, Jesus Paula

doi:10.1016/j.gore.2021.100745

Cited by 10 publications

(6 citation statements)

References 15 publications

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“…Furthermore, the literature analysis reported several cases of good response to chemotherapy according to standard protocols applied to EwS. 19 , 20 Depending on the initial therapeutic strategy, two groups of CRS were evaluated in the study: those treated as EwS and those treated as HG‐STS. There was no statistical difference in mOS and mRFS between both cohorts.…”

Section: Discussionmentioning

confidence: 99%

Patterns of care and outcome of CIC‐rearranged sarcoma patients: A nationwide study of the French sarcoma group

et al. 2022

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Section: Discussionmentioning

confidence: 99%

Patterns of care and outcome of CIC‐rearranged sarcoma patients: A nationwide study of the French sarcoma group

et al. 2022

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“…Focal myxoid matrix ( 1 , 3 , 7 – 9 , 11 , 13 , 14 , 18 , 25 , 26 , 30 ) and spindle tumor cells ( 3 , 8 – 11 , 14 , 18 , 19 , 21 , 27 ) are also reported in some studies. Other less common morphologies include rhabdoid appearance or plasmacytoid appearance ( 3 , 9 , 12 , 18 , 19 , 25 , 32 ), epithelioid ( 18 , 32 ), formation of microcystic spaces or pseudoacinar arrangements ( 8 , 9 , 15 , 21 , 23 , 32 ), or single cell cords ( 13 ). There is one case in that focal hyaline cartilage formations appeared after chemotherapy ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

“…To date, more than 200 cases of CIC -rearranged sarcoma have been reported, among which the CIC–DUX4 was the most common fusion ( 1 – 3 , 7 – 32 ). Here, we report a case of CIC–DUX4 fusion-positive sarcoma (CDS) arising in the pelvic cavity of a 17-year-old girl with targeted next-generation sequencing results, which enriches the manifestation, histology, and cytogenetic scales of this rare sarcoma.…”

Section: Introductionmentioning

confidence: 99%

A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

He²

2022

Front. Oncol.

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CIC–DUX4 fusion-positive sarcoma is a subtype of undifferentiated small round cell sarcoma that is rarely reported. As far as we know, less than 200 cases have been reported worldwide to date. The clinicopathologic characteristics of this kind of tumor are non-specific, which makes it difficult to be diagnosed. Therefore, more cases are required to enrich the diagnosis and treatment experience. Here, we present a 17-year-old Asian girl diagnosed with CIC–DUX4 fusion-positive sarcoma after targeted next-generation sequencing. Her clinical manifestation was abdominal pain. Furthermore, a mass in the pelvic cavity and massive ascites were found after an imaging examination. After resection, the mass was sent to the pathology department for a definite diagnosis, and the micromorphology showed an undifferentiated sarcoma with massive necrosis. The tumor cells were round to spindle with clear to eosinophilic cytoplasm and vesicular nuclei. Rhabdoid cells and myxoid mesenchyme were focally shown. Immunohistochemical staining showed diffusely positive for vimentin, cyclin D1, Fli-1, and WT-1 and very focally positive for CD99. Moreover, the targeted next-generation sequencing also revealed other genetic changes in this tumor including LongInDel of POLE, copy number variation of CD79, low tumor mutational burden, and microsatellite stability. With a follow-up time of 6 months, the patient survived the disease and received chemotherapy routinely. This report presented a rare primary site CIC–DUX4 fusion-positive sarcoma (CDS) and revealed novel genetic changes that enrich the manifestation, histology, and cytogenetic scales of this rare sarcoma. In addition, we have summarized the clinicopathologic characteristics of this tumor by reviewing the literature to have a better understanding of CIC–DUX4 fusion-positive sarcomas, which may be helpful for diagnosis and treatment.

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“…Currently, patients with CIC-rearranged sarcoma are routinely treated in the same way as EWS, with a neoadjuvant and adjuvant anthracycline-based polychemotherapy regimen, surgery, and radiotherapy. Although some sporadic cases of good response to chemotherapy or radiation therapy have been reported [ 15 , 16 ], the prognosis of CIC sarcomas is poor. The 5-year overall survival is around 50%, which is significantly lower than the 80% 5-year overall survival of EWS patients [ 4 , 14 , 17 ].…”

Section: Description Of Cic-rearranged Sarcomamentioning

confidence: 99%

CIC-Rearranged Sarcomas: An Intriguing Entity That May Lead the Way to the Comprehension of More Common Cancers

Mancarella

Carrabotta

Toracchio

et al. 2022

Cancers

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Capicua transcriptional repressor (CIC)-rearranged sarcoma, belonging to the undifferentiated round cells sarcoma family, is characterized by high metastatic rate and poor chemo response. CIC sarcoma represents a new entity harboring the recurrent chromosomal translocation between CIC and, in most of the cases, DUX4. CIC-DUX4 imposes a CIC-specific transcriptional signature, which drives cell transformation, proliferation, and migration. While the discovery of the fusion represented the first evidence of a role of CIC in cancer, a complete comprehension of CIC-rearranged activity is still required before providing new potential avenues for therapy. To date, a specific and effective treatment for CIC sarcoma has yet to be defined. In this review, we initially highlight the clinical features and pathogenesis of CIC-rearranged sarcomas along with current therapeutic approaches and then focus on the specific oncogenic mechanisms driven by the CIC-rearrangement. We discuss novel therapeutic options evoked by the aberrant relations of CIC-DUX4 with the IGF system, DUSP6, P300/CBP, and CCNE1. We also discuss how different mutations involving CIC might converge on a common upregulation of CIC-target genes across human cancers. A deeper understanding of the oncogenic mechanisms driven by the chimera CIC-DUX4 might provide novel therapeutic opportunities with a general impact in cancer.

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CIC-DUX4 rearranged uterine cervix round-cell sarcoma exhibiting near-complete pathologic response following radiation and neoadjuvant chemotherapy: A case report

Cited by 10 publications

References 15 publications

Patterns of care and outcome of CIC‐rearranged sarcoma patients: A nationwide study of the French sarcoma group

Patterns of care and outcome of CIC‐rearranged sarcoma patients: A nationwide study of the French sarcoma group

A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

CIC-Rearranged Sarcomas: An Intriguing Entity That May Lead the Way to the Comprehension of More Common Cancers

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