Learning objectives
To report and discuss two clinical cases of patients that developed musculoskeletal desmoid tumours after spine instrumentation, whose diagnosis was stablished following percutaneous CT guided biopsy.
Background
Desmoid tumours, also known as aggressive fibromatosis, are rare locally invasive fibromatous lesions that result from monoclonal fibroblastic proliferation. Most are sporadic, associated with β-catenin CTNNB1 gene mutations and few with an APC gene mutation as part of Gardner syndrome in familial adenomatous polyposis(1,2). Sporadic extra-abdominal desmoid tumours after bone fractures or following surgical instrumentation have been reported, remaining its physiopathology poorly understood
Findings and procedure details
Case Presentations:
Case 1 – 18 year old female who underwent spine posterior dorsolombar arthrodesis for symptomatic scoliosis at the age of 13. Presented 5 years later with a 3 month onset right laterocervical painful tumefaction, further characterized by CT as a heterogeneous deep soft tissue nodular mass with slightly irregular margins and post-contrast enhancement. A percutaneous CT guided biopsy was performed confirming the diagnosis of desmoid tumour.
Case 2 – 39 year old male, victim of spinal trauma 3 years before with C6-C7 luxation...
Conclusion
Although rare, sporadic extra-abdominal desmoid tumours or aggressive muscular-aponeurotic fibrosis have been reported in patients who experienced bone lesions or underwent surgical instrumentation. It is known the role of β-catenin in bone regeneration, being this a possible key factor in understanding this phenomenon.
Hystological analysis of the mass is mandatory to diagnose these patients, therefore recognizing history, clinical and imaging features of the lesions is of major concern for the radiologist. Working in clinical settings with easy access to CT or US equipments, also provides...
Personal information and conflict of interest
R. F. Sousa; 1400050/PT - nothing to disclose M. A. A. Correia; Lisbon/PT - nothing to disclose C. P. L. Guerreiro; Lisbon/PT - nothing to disclose F. M. Ornelas Raposo; Lisbon/PT - nothing to disclose G. Sa; Lisbon/PT - nothing to disclose
References
1 - Kasper, Bernd et al. “Desmoid tumors: clinical features and treatment options for advanced disease” oncologist vol. 16,5 (2011): 682-93.
2 - Fornaro, Rosario et al. “Extra-abdominal fibromatosis: Clinical and therapeutic considerations based on an illustrative case” Oncology letters vol. 10,5 (2015): 3103-3106.