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Case of a CIC::DUX4 fusion gene in a vascular neoplasm extends the spectrum of CIC-rearranged sarcomas.
Jeck, William R; Rapisardo, Sarah; Anderson, Barbara A; Hendrickson, Peter; Jour, George; Riedel, Richard F; Brigman, Brian E; Al-Rohil, Rami N.
Afiliación
  • Jeck WR; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.
  • Rapisardo S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.
  • Anderson BA; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.
  • Hendrickson P; Department of Radiation Oncology, Duke University School of Medicine, Durham, North Carolina, USA.
  • Jour G; Department of Pathology, New York University Grossman School of Medicine, New York, New York, USA.
  • Riedel RF; Department of Medical Oncology, Duke University School of Medicine, Durham, North Carolina, USA.
  • Brigman BE; Orthopaedic Surgery, Duke University School of Medicine, Durham, North Carolina, USA.
  • Al-Rohil RN; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.
J Cutan Pathol ; 2024 Jul 15.
Article en En | MEDLINE | ID: mdl-39010330
ABSTRACT
CIC-rearranged sarcomas comprise a group of exceptionally aggressive round-cell sarcomas. These tumors most commonly demonstrate CICDUX4 fusion and show similar histopathology to Ewing sarcomas, though lesions mimicking vascular neoplasms have recently been described. Here, we describe a case of a patient with CICDUX4 fusion sarcoma identified using RNA-based molecular testing who was initially diagnosed with an endothelial neoplasm. The tumor showed extensive vasoformative growth, complete WT1 negativity, and global positive staining for ERG, CD31, and DUX4 by immunohistochemistry. Methylation testing of the tumor clustered more closely with angiosarcomas than with CIC-rearranged sarcomas. Our findings suggest that CICDUX4 fused neoplasms may demonstrate a more diverse phenotypic range than previously appreciated and offer evidence that both molecular and immunohistochemical studies are needed for accurate diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Cutan Pathol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Cutan Pathol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos