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Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review
Jeffrey M Cloutier1,2, Rami N Al-Rohil3, Rajiv M Patel4
1Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Journal of Cutaneous Pathology
|February 8, 2025
Summary
Diagnosing CIC-rearranged sarcoma, a rare cancer, is challenging. This review highlights key immunohistochemical and molecular tests, like WT1 and DUX4, crucial for accurate diagnosis.
Area of Science:
- Oncology
- Pathology
- Molecular Diagnostics
Background:
- CIC-rearranged sarcoma is an aggressive undifferentiated round cell sarcoma.
- Histologic overlap with other round cell sarcomas poses diagnostic challenges.
Purpose of the Study:
- To review current diagnostic tests for CIC-rearranged sarcoma.
- To evaluate the utility of immunohistochemical, cytogenetic, and molecular assays.
Main Methods:
- Systematic review of 36 studies including 436 CIC-rearranged sarcomas.
- Analysis of immunohistochemical markers (CD99, WT1, ETV4, DUX4).
- Evaluation of fluorescence in situ hybridization (FISH) and RNA fusion analysis.
Main Results:
- Immunohistochemical markers show high sensitivity: DUX4 (97%), ETV4 (85%), WT1 (83%), CD99 (87%).
- Specificity varies: DUX4 (100%), ETV4 (95%), WT1 (81%-90%), CD99 (low).
- FISH and RNA fusion analysis have potential false negatives.
Conclusions:
- Accurate diagnosis requires integrating morphology with IHC and molecular testing.
- WT1, ETV4, and DUX4 are valuable IHC markers.
- FISH and RNA fusion analysis aid in detecting CIC-rearrangements but require careful interpretation.
