Abstract
We describe a 2-year-old girl with recurrent giant cell fibroblastoma (GCF) of the postsacrococcygeal region. Both the initial and recurrent tumours contained solid and angiectoid areas. The former was composed of loosely arranged wavy spindle cells and giant cells with a well-vascularized myxoid to collagenous stroma. The angiectoid spaces were often lined by multinucleated giant cells. Immunohistochemically, the tumour cells and small vessels in the tumour tissue were positive for platelet-derived growth factor (PDGF) alpha and beta receptors. Molecular analysis revealed fusion of collagen type Ialpha1 exon 26 with PDGF-B chain exon 2 that induced unscheduled production of PDGF-BB. These findings suggest that PDGF and its receptors significantly contribute to the development of GCF in both an autocrine and a paracrine manner.
MeSH terms
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Base Sequence
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Dermatofibrosarcoma / metabolism*
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Dermatofibrosarcoma / pathology
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Dermatofibrosarcoma / surgery
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Female
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Humans
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Infant
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Molecular Sequence Data
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Neoplasm Proteins / genetics
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Neoplasm Proteins / metabolism*
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Neoplasm Recurrence, Local / metabolism
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / metabolism*
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Receptor, Platelet-Derived Growth Factor alpha / metabolism
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Receptor, Platelet-Derived Growth Factor beta / metabolism
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Receptors, Platelet-Derived Growth Factor / metabolism*
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Sacrococcygeal Region
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Skin Neoplasms / metabolism*
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Skin Neoplasms / pathology
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Skin Neoplasms / surgery
Substances
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COLIA1-PDGFB fusion protein, human
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Neoplasm Proteins
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Oncogene Proteins, Fusion
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Receptor, Platelet-Derived Growth Factor alpha
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Receptor, Platelet-Derived Growth Factor beta
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Receptors, Platelet-Derived Growth Factor