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Fish analysis of supernumerary ring chromosome in dermatofibrosarcoma protuberans
G Stenman1, H Andersson, J Meiskindblom
1ARMED FORCES INST PATHOL,DEPT SOFT TISSUE PATHOL,WASHINGTON,DC 20306.
International Journal of Oncology
|May 11, 2011
Summary
Dermatofibrosarcoma protuberans (DFSP) cases often show trisomy 8 and ring chromosomes. This study found these ring chromosomes frequently contain sequences from chromosome 17, aiding in their identification.
Area of Science:
- Oncology
- Cytogenetics
- Dermatopathology
Background:
- Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade malignant skin tumor.
- Specific chromosomal abnormalities are associated with DFSP development.
- Understanding these genetic alterations is crucial for diagnosis and prognosis.
Purpose of the Study:
- To characterize the cytogenetic and molecular findings in a case of DFSP.
- To investigate the origin of a supernumerary ring chromosome found in DFSP.
- To evaluate the utility of Fluorescence In Situ Hybridization (FISH) in identifying chromosomal abnormalities in DFSP.
Main Methods:
- Light and electron microscopy
- Immunohistochemistry
- Cell culture
- Conventional cytogenetics
- Fluorescence In Situ Hybridization (FISH) analysis
Main Results:
- The DFSP case exhibited trisomy 8 and a supernumerary ring chromosome in approximately 35% of cells.
- FISH analysis revealed the ring chromosome contained sequences derived from chromosome 17.
- FISH also suggested the ring chromosome possessed a centromere originating from chromosome 17.
Conclusions:
- Trisomy 8 and supernumerary ring chromosomes, particularly those derived from chromosome 17, appear to be non-random genetic abnormalities in DFSP.
- FISH is a valuable tool for identifying the specific origin of marker ring chromosomes in DFSP.
- These findings contribute to the understanding of the molecular pathogenesis of dermatofibrosarcoma protuberans.

