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Calcifying/ossifying synovial sarcoma shows t(X;18) with SSX2 involvement and mitochondrial calcifications
V Winnepenninckx1, R De Vos, M Debiec-Rychter
1Department of Pathology, University Hospitals, KU Leuven, Belgium.
Histopathology
|February 24, 2001
Summary
This study details a rare, extensively calcified synovial sarcoma variant. Ultrastructural, cytogenetic, and molecular analyses confirmed its identity and revealed unique mitochondrial calcifications.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Synovial sarcoma is a rare soft tissue sarcoma.
- Extensive calcification and ossification are uncommon features in synovial sarcoma.
- Previous reports lack detailed ultrastructural, cytogenetic, and molecular analyses of such variants.
Observation:
- A 20-year-old male presented with a large shoulder mass causing chest wall deformity.
- Histopathology revealed monophasic spindle cells obscured by massive calcification and ossification.
- Immunohistochemistry showed keratin, epithelial membrane antigen, vimentin, and CD99 expression.
Findings:
- Cytogenetic analysis confirmed the characteristic t(X;18)(p11.2;q11.2) translocation.
- Fluorescence in-situ hybridization identified SSX2 involvement.
- Ultrastructural examination revealed needle-shaped intramitochondrial crystals in tumor cells and extracellular matrix.
Implications:
- The findings definitively classify the tumor as a variant of synovial sarcoma.
- The unique mitochondrial calcifications may offer insights into the pathogenesis of extensive metaplastic ossification and calcification.
- This case expands the understanding of synovial sarcoma heterogeneity and its potential for aggressive behavior, as evidenced by metastatic lung disease.