Multiple primary dermatofibrosarcoma protuberans tumors in a single patient with chromosomal microarray analysis: A...

Area of Science:

• Oncology
• Genetics
• Dermatology

Background:

• Dermatofibrosarcoma protuberans (DFSP) is a rare skin cancer known for local invasion and recurrence.
• Distinguishing multiple primary DFSP from metastatic disease presents a diagnostic challenge.
• The characteristic t(17;22) translocation and COL1A1::PDGFB fusion are key diagnostic markers, though assay sensitivity can vary.

Observation:

• A patient developed two distinct DFSP tumors over a 7-year period.
• Standard diagnostic assays for the COL1A1::PDGFB fusion showed variable sensitivity.
• Chromosomal microarray analysis was employed to investigate the genomic landscape of both tumors.

Findings:

• The two DFSP tumors exhibited distinct genomic alterations upon chromosomal microarray analysis.
• These distinct alterations support the hypothesis of multiple independent primary malignant events.
• This finding contrasts with the expectation of a shared clonal origin in metastatic or multifocal disease.

Implications:

• Chromosomal microarray analysis can be a valuable tool in diagnosing multifocal DFSP.
• This case highlights the importance of comprehensive genomic evaluation in complex DFSP presentations.
• Understanding the distinct genomic profiles of multiple DFSP tumors aids in accurate diagnosis and patient management.