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Related Experiment Video

Updated: Aug 26, 2025

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis

Published on: February 8, 2019

Giant cell fibroblastoma: a case report.

Jan Hrudka, Jan Hojný, Eva Leamerová

Ceskoslovenska Patologie

|October 12, 2022

Summary

Giant cell fibroblastoma, a rare locally aggressive tumor, can be mistaken for dermatofibrosarcoma protuberans (DFSP). Confirmation relies on identifying the COL1A1-PDGFB gene fusion, crucial for accurate diagnosis and treatment.

Area of Science:

Oncology
Pathology
Genetics

Background:

Giant cell fibroblastoma (GCF) is a rare, locally aggressive mesenchymal tumor affecting young individuals, primarily on the trunk.
GCF shares similarities with dermatofibrosarcoma protuberans (DFSP), including morphology, immunophenotype, and the COL1A1-PDGFB gene fusion, suggesting a potential relationship.
Local recurrence is common in GCF if incompletely excised, but distant metastasis is not observed.

Observation:

A case report details a young man with a slowly growing subcutaneous groin tumor.
Histological examination revealed a mesenchymal tumor with multinucleated giant cells and pleomorphic spindle cells.
Immunohistochemistry showed CD34 positivity in tumor cells and ERG positivity in endothelial cells.

Findings:

Keywords:

dermatofibrosarcoma protuberans fibroblastoma giant cell juvenile

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The presence of multinucleated giant cells and specific immunoprofile raised suspicion for GCF.

Molecular analysis confirmed the diagnosis by identifying the COL1A1-PDGFB gene fusion.

Positive surgical margins necessitated a reexcision, highlighting the tumor's borderline malignant behavior.

Implications:

Accurate diagnosis of GCF is crucial due to its potential for local recurrence.
Understanding the link between GCF and DFSP, including the shared COL1A1-PDGFB gene fusion, aids in diagnosis and management.
This case underscores the importance of molecular confirmation for rare tumors like GCF.