Desmoid Type Fibromatosis of the Breast: Ten-Year Institutional Results of Imaging, Histopathology, and Surgery

Abstract

<b><i>Background:</i></b> Desmoid type fibromatoses has proven to be a diagnostic and therapeutic challenge, as they often appear primarily as a carcinoma of the breast with a high recurrence risk. <b><i>Patients:</i></b> A digital archive search was performed for the period from 2009 to the end of 2018. Inclusion criteria consisted of histological examination of at least the surgical specimen in the reference pathology department and at least a second opinion diagnosis in the reference radiology department. <b><i>Results:</i></b> A total of 14 women and 1 man underwent surgery on desmoid type fibromatosis<b><i></i></b>of the breast. The average patient age was 49 years (range: 22–72 years). The mean tumor size was 2.2 cm (range: 0.8–4.2 cm). The tumor was detectable in mammography in 12 out of 13 patients and in all 15 patients in sonography. MRI was performed preoperatively in 6 patients; in all of the patients, the tumor was visualized with inhomogeneous contrast enhancement. In the imaging procedures, all desmoid type fibromatoses were classified as suspicious. Performing the core biopsy, preoperative histology confirmed desmoid fibromatosis in 12 out of 15 patients. Nuclear stain for ß-catenin was positive in 7 out of 10 patients.<b><i></i></b>Negative staining was found for AE1/A3 in 10 out of 10 and CD34 in 12 out of 12 patients. In all of the patients, a single-stage operation without the detection of border-forming tumor margins was performed. The follow-up interval ranged from 16 to 96 months (mean: 44.86 months, median: 43 months). In this follow-up period, no patient was diagnosed with desmoid tumor recurrence. <b><i>Conclusion:</i></b> In imaging, desmoid type fibromatosis of the breast has typical malignancy-related criteria. Extensive preoperative diagnostics enable the planning of complete primary excision of the lesion and reduce the recurrence risk.

Mimickers of breast malignancy: imaging findings, pathologic concordance and clinical management

“…Biopsy is indicated for diagnosis. Although granular cell tumors are benign, wide local surgical excision is indicated owing to their locally infiltrative nature [ 75 , 80 ].

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“…The standard treatment for desmoid fibromatosis is surgical excision with wide margins, particularly in cases of tumor growth or progressive disease [70][71][72][73][74][75]. Additional treatment options include non-steroidal antiinflammatory drugs, chemotherapeutic agents, hormonal therapy, and radiation treatment [71,72].…”

“…Color Doppler (c) and grayscale (d) ultrasound shows a corresponding irregular mass with internal vascularity (arrows). Core needle biopsy yielded granular cell tumor which was treated with surgical excision local surgical excision is indicated owing to their locally infiltrative nature [75,80].…”

Fibromatosis of the breast in a male patient

“…Fibromatosis of the breast is exceedingly rare, with a reported manifestation of only 0.2% of all breast tumors [2] . Amongst the reported cases, women are diagnosed twice as often compared to men, which raises the question of hormonal influence [2] .…”

“…Fibromatosis of the breast is exceedingly rare, with a reported manifestation of only 0.2% of all breast tumors [2] . Amongst the reported cases, women are diagnosed twice as often compared to men, which raises the question of hormonal influence [2] . Immunohistochemically, β-Catenin has been found to be a specific marker associated with breast desmoid type fibromatosis, that shows nuclear expression in sporadic and familial cases in up to 80% of patients [3] .…”