Recurrence of a Chondroid Tenosynovial Giant Cell Tumor in the Temporomandibular Joint
Anusha Khawaja1, Guiseppe Lanzino2, Jorge Torres-Mora3, Andrew Folpe3, Derek Johnson4, Ugur Sener5
1Internal Medicine, HCA TriStar Centennial Medical Center, 2Neurosurgery, 3Pathology, 4Radiology, 5Neurology, Mayo Clinic
Objective:
To describe radiologic, pathologic, and clinical findings associated with a chondroid tenosynovial giant cell tumor (CTGCT), harboring a fibronectin 1 (FN1) tyrosine endothelial kinase (TEK) gene fusion that recurred within 1 year of initial resection.
Background:
Chondroid tenosynovial giant cell tumors (CTGCT) are indolent tumors with predilection for the temporomandibular joint (TMJ) region. These tumors can be locally aggressive and invade the synovium of joints, tendons, or bursa. CTGCTs can harbor FN1::TEK fusions, which may define a distinct entity with a synoviocyte cell of origin. FN1 encodes fibronectin, a glycoprotein participating in cell adhesion and migration processes. When fused with a receptor tyrosine kinase, like TEK, it can lead to aberrant cell signalization and promote tumorigenesis. Recurrence rate is low (10-15%) following gross total resection (primary treatment).
Design/Methods:
Case report and review of literature.
Results:
A 48-year-old male with history of multiple concussions underwent surveillance MRI. Imaging identified a 3.9x2.8 cm extra-axial intracranial lesion with heterogeneous enhancement and T2 hyperintensity. It was difficult to tell whether origin was bone or joint and therefore, differential diagnosis included chondrosarcoma, chondroma, metastatic disease, meningioma, solitary fibrous tumor, and calcium pyrophosphate deposition disease. Patient underwent gross total resection. Histological evaluation demonstrated proliferation of epithelioid cells with eccentric nuclei and eosinophilic cytoplasm admixed with osteoclast-type giant cells. Molecular testing was done to assist with classification. This identified an FN1::TEK fusion, consistent with diagnosis of CTGCT. Ten months after surgery, imaging demonstrated tumor recurrence. Additional tissue analysis was undertaken, which identified positivity for colony stimulating factor 1 (CSF-1). Treatment options include repeat resection and radiation therapy.
Conclusions:
CTGCT should be included in the differential diagnosis of intracranial extra-axial osseous mass lesions. Optimal management of recurrent tumors is unclear, but surgical resection is the only option that has been successfully trialed.
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