CIC (Capicua Transcriptional Repressor)

Despite the relatively favorable outcomes in BCOR sarcomas, the relapse rate is considerable, whereas pediatric patients with CIC sarcoma typically develop metastatic disease and have poor outcomes. The data provide a prospective foundation for genetically based therapeutic strategies and risk stratification.

This case underscores the importance of recognizing distinct features of malignant extrarenal rhabdoid tumor to ensure accurate diagnosis and early intervention, as the disease remains aggressive with a high risk of recurrence despite multimodal therapy.

A positive RNA-seq or methylation array analysis result may be sufficient evidence for a diagnosis of CIC-RS in the appropriate histologic context. A negative or inconclusive/unclassified RNA-seq or methylation array analysis result in a tumor with high initial suspicion for CIC-RS likely requires careful reevaluation.

Early surgical resection is probably a more suitable treatment option. Multidisciplinary collaboration is essential in the treatment of CRS, and large studies exploring novel therapeutic options are urgently needed to bring hope to patients with this aggressive disease.

The patient last visited the clinic in May 2024 due to fever, fatigue, diarrhea, and other symptoms. CRS in solid organs is extremely rare; however, when the morphology shows multinodular, small, round cells with mild-to-moderate atypia, vacuolated nuclei, and prominent nucleoli, it should be considered as a potential differential diagnosis.

A novel IRAK3:HMGA2 fusion was also identified. This example of CRS simulated MCC clinically, histopathologically, and immunohistochemically and represents a likely underrecognized diagnostic pitfall.

After treatment with a variety of targeted and chemotherapy drugs, the patient showed a poor response with a survival time of merely 7 months. This case of USRCS harboring CIC-LEUTX fusion with renal involvement could help to expand our understanding on the diagnosis and treatment of CRS harboring CIC-LEUTX fusion.

This case report describes the first detailed account of a surgically resected aggressive CDS originating from the stomach.

In this article, we report a patient with uSRCS who responded to treatment with anti-VEGF inhibitor surufatinib and anti-PD-1 inhibitor camrelizumab after progression on first-line chemotherapy, second-line anlotinib combined with immunotherapy, and third-line chemotherapy...The patient received 4 cycles of the Ifosfamide and epirubicin hydrochloride regimen, and her best objective response was stable disease...Thus, a regimen of gemcitabine plus docetaxel was adopted...As of April 2023, the patient had a progression-free survival time of 26 months. Surufatinib in combination with camrelizumab could be effective in the treatment of advanced uSRCSs.

In addition, the assessment of genomic alterations using genome panel testing was useful to confirm the accurate diagnosis. Our present case suggests that widespread use of genomic panel testing in the future may lead to early treatment and improve the prognosis of CIC-rearranged sarcomas.