Introduction: Desmoid tumor (DT) is a rare neoplasm with high local recurrence rates, composed of fibroblastic cells that are characterized by the expression of key molecules, including the intermediate filament vimentin, cyclooxygenase-2 (COX-2), and nuclear bcatenin, and lack of epithelial markers. Circulating tumor cells (CTCs) isolated from the peripheral blood of patients with sarcomas and other neoplasms can be used as early biomarkers of tumor invasion and dissemination. Moreover, CTCs can also re-colonize their tumors of origin through a process of “tumor self-seeding.”
Objectives: We aimed to identify CTCs in the peripheral blood of patients with DT and evaluate their expression of b-catenin, transforming growth factor receptor I (TGF-bRI), COX-2, and vimentin proteins.
Material and Methods: We conducted a prospective study of patients with initial diagnosis or relapsed DT with measurable disease. Blood samples from each patient were processed and filtered by ISET® (Rarecells, France) for CTC isolation and quantification. The CTC expression of b-catenin, COX-2, TGF-bRI, and vimentin was analyzed by immunocytochemistry (ICC).
Results: A total of 18 patients were included, and all had detectable CTCs. We found a concordance of b-catenin expression in both CTCs and primary tumors in 42.8% (6/14) of cases by using ICC and immunohistochemistry, respectively
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