Dados do Trabalho

Título

Desmoid Tumor in the Male Breast Refractory to Systemic Treatment

Descrição sucinta do(s) objetivo(s)

This case report describes the complex and challenging management of a desmoid tumor in a male patient's breast, a rare occurrence, providing valuable information about the clinical presentation, imaging characteristics, and progression.

História clínica

A 44-year-old male patient complained of weight loss and a lump in the left breast. Breast MRI demonstrated an oval mass with irregular margins, which showed heterogeneous enhancement, with a type I (persistent) kinetic curve in the left breast's lower quadrants, measuring 67 x 48 x 36 mm (estimated volume of 60 cc). It was in close contact with the skin and showed signs of infiltration into the pectoralis major muscle.

Discussão e diagnóstico

Percutaneous biopsy showed a diagnosis of desmoid tumor, ER-negative. Initially underwent watchful waiting with Celecoxib, which led to tumor growth. Genetic testing revealed a CTNNB1-positive variant. After further growth under Sorafenib, a multidisciplinary team shifted to systemic therapy with Methotrexate and Vinblastine. Despite this, the tumor grew to 1146 cc, necessitating a surgical approach and radiotherapy. Post-surgery, using an abdominal fasciomyocutaneous flap, the patient showed no recurrence at a seven-month follow-up, remaining asymptomatic with ongoing clinical and imaging surveillance. Desmoid neoplasia is a non-metastasizing tumor known for local growth, adjacent structure invasion, and high recurrence. Its cause is unclear, and its relationship with hormonal factors and physical trauma remains debated. Diagnosing breast desmoid tumors is challenging due to non-specific imaging features, making differentiation from malignancies difficult. Treatment varies, including surgery, which is standard but has high recurrence rates, and conservative monitoring for asymptomatic cases. Various therapies like tyrosine kinase inhibitors, chemotherapy, hormonal treatments, and NSAIDs are used, with emerging options like high-intensity focused ultrasound and ablation techniques showing promise. Radiation therapy is also employed, especially post-surgery, to reduce recurrence risk.

Conclusões

We presented a rare case of desmoid tumor in a male breast with chest wall invasion, which showed progression after neoadjuvant systemic treatment. Imaging was important in diagnosis, staging, and response evaluation, supporting multidisciplinary meetings for proper treatment planning.

Palavras Chave

Desmoid Tumor; Male breast;

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