Axillary desmoid-type fibromatosis: a rare clinical presentation, histopathological correlation, and literature review

Summary

Background: Desmoid tumours are rare soft-tissue tumours arising from mesenchymal tissue and exhibiting local invasiveness, although they don't metastasize. These tumours present variably and follow an unpredictable course, ranging from asymptomatic to locally aggressive with excruciating symptoms. Surgical intervention is indicated for symptomatic cases, while indolent cases benefit from close surveillance. Recently, the use of systemic approaches to the management of desmoid tumours has increased. These include γ-secretase inhibitors, which have shown encouraging therapeutic results in the treatment of progressive, refractory cases. Nonetheless, due to the disease's rarity, managing DT remains challenging, and updating the field with current knowledge is warranted. Our case presents a rare axillary desmoid tumour, for which surgical resection was chosen and optimized to achieve complete clearance while preserving upper-limb function. Case presentation: Herein, we present a rare case of desmoid-type fibromatosis in the right axillary region of a young, otherwise healthy female. Surgical resection of the mass was performed without intra- or postoperative complications, with the aim of preserving upper-limb function and motion. Postoperative follow-up over 18 months showed no clinical or radiological evidence of tumour recurrence, with full preservation of upper-limb function and motion. Conclusion: Desmoid tumours of the axilla are clinically challenging, requiring a careful balance between complete resection and functional preservation. Recently, active surveillance has been used as the primary management for desmoid tumour cases and has shown spontaneous regression without the need for intervention. However, our case demonstrates that a surgical approach can still achieve excellent local control and long-term disease-free survival without functional impairment. It also provides live evidence underscoring the valuable role of surgery in managing symptomatic or progressive tumours in complex anatomical locations.