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Multiple Primary Dermatofibrosarcoma Protuberans Tumors In A Single Patient With Chromosomal Microarray Analysis: A Case Report And Review.

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Multiple Primary Dermatofibrosarcoma Protuberans Tumors In A Single Patient With Chromosomal Microarray Analysis: A Case Report And Review.

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

Joseph S Durgin¹, Carli P Whittington², Mallory Joseph¹

¹Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.

Journal of Cutaneous Pathology

|March 28, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Dermatofibrosarcoma protuberans (DFSP) can present as multiple tumors. Chromosomal microarray analysis revealed distinct genomic alterations in two separate DFSP cases, indicating multiple primary malignant events rather than metastasis.

Keywords:

array‐based CGH dermatofibrosarcoma protuberans multiple primary

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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.