Locally Aggressive Desmoid Tumor With L4-L5 Vertebral Invasion and Progressive Neurological Deficit: A Case Report

Area of Science:

• Oncology
• Pathology
• Neurosurgery

Background:

• Desmoid-type fibromatosis is a rare, non-metastatic neoplasm characterized by local infiltration.
• Spinal involvement is uncommon, often mimicking malignant tumors and causing severe neurological deficits.

Purpose of the Study:

• To report a rare case of spinal desmoid-type fibromatosis with vertebral destruction.
• To highlight diagnostic challenges and management strategies for this rare presentation.

Main Methods:

• Case report of a 59-year-old woman with spinal desmoid-type fibromatosis.
• Utilized imaging (MRI, CT), histopathology, β-catenin staining, and genetic mutation analysis (CTNNB1, APC).
• Surgical intervention included posterior decompression and spinal stabilization.

Main Results:

• The patient presented with severe low back pain, lower-limb weakness, and functional decline.
• Imaging revealed a retroperitoneal-pelvic mass invading L4-L5 vertebral bodies.
• Histopathology and genetic analysis confirmed desmoid-type fibromatosis, with APC variant suggesting familial adenomatous polyposis.
• Surgical decompression and stabilization were performed for neural compromise.

Conclusions:

• Spinal desmoid-type fibromatosis can cause severe morbidity and mimic malignancy.
• Accurate diagnosis requires a combination of imaging, histopathology, and molecular analysis.
• Management involves addressing neural compromise and spinal instability, with consideration for underlying genetic syndromes.