Primary retroperitoneal perirenal CIC rearrangement sarcoma: A case report

Area of Science:

• Oncology
• Pathology
• Genetics

Background:

• Primary retroperitoneal perirenal sarcomas with CIC gene rearrangement are exceptionally rare.
• Understanding the clinical, pathological, and genetic features is crucial for diagnosis and management.

Purpose of the Study:

• To present a case of primary retroperitoneal perirenal CIC rearrangement sarcoma.
• To detail the clinical presentation, pathomorphology, and immunohistochemistry findings.
• To report the detection of CIC gene rupture using fluorescence in situ hybridization (FISH).

Main Methods:

• Histopathological examination of tumor tissue.
• Immunohistochemistry for specific cellular markers.
• Fluorescence in situ hybridization (FISH) to detect CIC gene rearrangement.

Main Results:

• The tumor consisted of small- to medium-sized round blue cells with hyperchromatic nuclei.
• Immunohistochemistry showed scattered CD99 expression.
• FISH confirmed CIC gene fragmentation and translocation.

Conclusions:

• This report highlights a rare sarcoma subtype, emphasizing the diagnostic utility of FISH for CIC gene rearrangement.
• Further research into these rare sarcomas is warranted for improved therapeutic strategies.