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Dermal CIC-Rearranged Sarcoma With Neuroendocrine Differentiation Mimicking Merkel Cell Carcinoma.
J Cutan Pathol
December 2024
SkinPath Solutions, Smyrna, Georgia, USA.
Capicua transcriptional repressor (CIC)-rearranged sarcoma (CRS) is a rare and recently described tumor that most commonly affects patients between 15 and 30 years of age. It is an undifferentiated round cell malignancy, with a disease defining CIC fusion, with double homeobox 4 (DUX4) being the most common partner. Here, we report a 77-year-old woman who presented with a cutaneous thigh mass with a clinical morphology suggesting Merkel cell carcinoma.
View Article and Find Full Text PDFEmerging round cell sarcomas in children.
Virchows Arch
November 2024
Royal Manchester Children's Hospital, Manchester, UK.
Several distinctive round cell sarcomas have emerged by leveraging new testing modalities to include immunohistochemistry, next-generation sequencing, methylation array, and others. While Ewing sarcoma has led the way as the prototypic round cell sarcoma, more recently described round cell sarcomas of bone and soft tissue are now recognized which have unique clinical, morphologic, immunophenotypic, and genetic signatures. While each of these entities is less common than Ewing sarcoma, it is important to distinguish these tumors for correct diagnosis, prognostication, and potential treatment management.
View Article and Find Full Text PDFBCOR-ITD Rearranged Sarcoma in the Mandible of a 5-Year-Old Child: A Case Report Highlighting Diagnostic Distinction From Odontogenic Fibromyxoma.
Int J Surg Pathol
November 2024
Department of Pediatric Hemato-oncology, Sir Ganga Ram Hospital, New Delhi, India.
The 5th edition of the World Health Organization (WHO) classification of soft tissue and bone has recognized three distinct groups among Ewing-like sarcomas, namely, CIC-rearranged sarcoma, sarcomas with genetic alterations, and round cell sarcomas with EWSR1:: non-ETS fusions. Sarcomas with genetic alterations are a distinct clinicopathological group of high-grade tumors, representing 5% of small round cell tumors. BCOR-ITD rearranged tumors commonly manifest as spindle cell sarcomas and many of them display low cellularity with monomorphous cell morphology and myxoid background resembling benign fibroblastic tumors.
View Article and Find Full Text PDFCapicua transcriptional repressor (CIC)-rearranged sarcoma harboring fusion with renal involvement: a rare case report.
Transl Cancer Res
October 2024
Department of Oncology, Suzhou Ninth People's Hospital, Suzhou Ninth Hospital Affiliated to Soochow University, Suzhou, China.
Background: Capicua transcriptional repressor (CIC)-rearranged sarcoma (CRS) is a rare and highly aggressive undifferentiated small round cell sarcoma (USRCS), which genetically displays a characteristic gene fusion between gene with other genes such as .
Case Description: We report a rare case with fusion. The 45-year-old male patient presented to our department with frequent dry cough and lumbar pain.
[Undifferentiated small round cell sarcomas of bone and soft tissue].
Ann Pathol
January 2025
Department of Pathology, UZ Leuven, University Hospitals, Leuven, Belgique; O&N IV Herestraat 49, 3000 Leuven, Belgique.
In the 2020 5th edition of the World Health Organization classification of soft tissue and bone tumours a major reorganization of Undifferentiated Small Round Cell Sarcomas (USRCS) took place based on the underlying molecular features. The classification now recognizes Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions, CIC-rearranged sarcoma and sarcoma with BCOR alterations. The focus on these genetic alterations highlights the importance of molecular techniques in the diagnosis of these entities.
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