Breast Desmoid Tumours: A Review of the Literature

• Published in: The breast journal 2024-01, Vol.2024 (1)
• Main Authors: Wu, Mike, Hughes, Thomas Michael, Edirimanne, Senarath, Ngui, Nicholas
• Format: Article
• Language: English
• Subjects: Abdomen; Age; Biopsy; Breast; Breast implants; Case reports; Computed tomography; Connective tissue diseases; Diagnosis; Estrogens; Histology; Hormone replacement therapy; Literature reviews; Malignancy; Mammography; Mutation; Patients; Rare diseases; Review; Risk factors; Skin; Surgery; Tumors; Ultrasonic imaging; β-Catenin
• ISSN: 1075-122X; 1524-4741
• DOI: 10.1155/2024/5803290

Breast desmoid tumour is a rare type of benign breast disease that presents like malignancy. Current guidelines are based on limited evidence derived from case reports and small case series and recommend resection with microscopically‐negative margin (R0). There is a high risk of recurrence despite negative surgical margins. A review of the published cases of breast desmoid since 2000 was conducted using Medline and Embase to descriptively analyse the clinical presentation, diagnosis, treatment, and outcomes of this rare disease. After screening, we identified 46 patients from 39 articles. Most cases did not have risk factors, but 17/46 (37%) had prior procedures on the ipsilateral breast. Mammography was able to detect 65% of the cases, ultrasound detected 74%, and both CT and MRI detected all cases when used. Preoperative diagnosis was best performed using core needle biopsy showing typical histology and positive beta‐catenin staining. 42/46 cases underwent definitive surgical management, with 8 cases of recurrence. Recurrence occurred within 3 years of the initial surgery. Median time of recurrence was 8 months, and the median follow‐up of the recurrence‐free patients was 12 months. There were no predictive factors identified for recurrence. There were 7 cases treated with a nonsurgical modality, with 3 showing at least a partial response.