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Updated: Jun 2, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Nonrandom secondary chromosome-aberrations in synovial sarcomas with t(x-18)
N Mandahl1, J Limon, F Mertens
1UNIV LUND HOSP,DEPT CLIN PATHOL,S-22185 LUND,SWEDEN. UNIV LUND HOSP,DEPT ORTHOPED SURG,S-22185 LUND,SWEDEN. MED UNIV GDANSK,DEPT BIOL & GENET,GDANSK,POLAND. ST MARYS HOSP,DEPT PATHOL,NEWTON LONGHORNE,PA. KAROLINSKA HOSP,DEPT ORTHOPED,TUMOR SERV,STOCKHOLM,SWEDEN. MED UNIV LODZ,DEPT ONCOL,LODZ,POLAND. CTR ONCOL,KRAKOW,POLAND.
Synovial sarcoma consistently shows the t(X;18) chromosomal aberration. Additional genetic changes, common in tumors, recurrences, and metastases, may influence disease progression.
Area of Science:
- Cytogenetics
- Oncology
- Molecular Biology
Background:
- Synovial sarcoma is a rare soft tissue sarcoma characterized by a specific chromosomal translocation.
- Understanding additional genetic alterations beyond the primary translocation is crucial for comprehending sarcoma evolution.
Purpose of the Study:
- To investigate the spectrum and frequency of secondary chromosomal aberrations in synovial sarcoma.
- To analyze if the distribution of these aberrations differs between primary tumors, recurrences, and metastases.
Main Methods:
- Cytogenetic analysis of 30 synovial sarcoma samples (13 primary, 11 recurrent, 6 metastatic) using short-term culturing.
- Detailed characterization of numerical and structural chromosomal changes, including the primary t(X;18) translocation.
Main Results:
- All samples exhibited the characteristic t(X;18) translocation; 23 samples showed additional aberrations.
- Common numerical changes included +7, +8, +12, -3, +9, +21, +2, -14, -17, +4, -11, +15, and -22.
- Loss of 3p (specifically 3p21) and 17p (specifically 17p13) were recurrent unbalanced structural changes. Trisomy 2 (+2) was absent in primary tumors, and trisomy 8 (+8) was absent in metastatic lesions.
Conclusions:
- Synovial sarcoma consistently harbors the t(X;18) translocation, often accompanied by secondary chromosomal aberrations.
- The frequency of most numerical aberrations was similar across primary, recurrent, and metastatic tumors, with specific exceptions noted for +2 and +8.
- These findings contribute to the understanding of the genetic landscape of synovial sarcoma and its potential role in tumor progression and dissemination.
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