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Primary intrathoracic dermatofibrosarcoma protuberans.

Lauren King¹, Dolores López-Terrada, Jared Jakacky

¹Departmentsof Pathology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.

The American Journal of Surgical Pathology

|October 31, 2012

Summary

This report details a rare fibrosarcomatous variant of dermatofibrosarcoma protuberans (DFSP) occurring deep in the chest. This genetically confirmed case expands the known spectrum of DFSP, highlighting the need for molecular pathology in deep-seated sarcomas.

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Area of Science:

Oncology
Pathology
Genetics

Background:

Dermatofibrosarcoma protuberans (DFSP) is typically a low-grade skin sarcoma.
Originating from uncertain dermal cells, DFSP rarely presents in deep soft tissues.

Observation:

A 9-year-old girl presented with dyspnea and fever, revealing a large thoracic mass.
The tumor recurred after initial treatment, showing high-grade spindle cell sarcoma with DFSP features.
Histology revealed a fibrosarcomatous variant of DFSP (FS-DFSP) without dermal involvement.

Findings:

Molecular confirmation of FS-DFSP using COL1A1-PDGFB fusion via FISH and RT-PCR.
This is the first reported genetically confirmed deep-seated DFSP case.
The tumor exhibited both high-grade sarcomatous and low-grade DFSP components.

Implications:

This case broadens the clinical and pathological spectrum of DFSP.
Suggests the utility of molecular tools for diagnosing deep-seated sarcomas.
Further research is needed to understand the full implications of deep-seated DFSP.