Desmoid-Type Fibromatosis of The Breast: A Case Series

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Abstract IntroductionDesmoid-type fibromatosis (DTF), also called aggressive fibromatosis, is a rare, benign, locally aggressive condition. Mammary DTF originates from fibroblasts and myofibroblasts within the breast tissue, representing 0.2% of all breast tumors. This study aims to present and discuss the clinical presentation and management of seven cases of breast DTF. Methods This single-center case series was conducted at the breast clinic of Smart Health Tower in Sulaymaniyah, Iraq. It included all patients diagnosed as breast DTF by histopathological examination, with those lacking complete data excluded. The patients were treated and managed between January 2021 and August 2024. Results This study involved seven female patients with a mean age of 35.29 ± 14.29 years. Clinically, six of them (85.71%) presented with a non-tender palpable breast mass, while one patient (14.28%) reported breast pain. Ultrasound revealed hypoechoic lesions in all cases. The average size of the masses was 29.43 ± 17.26 mm. All patients underwent wide local excision of the breast mass. Histopathological examination confirmed the diagnosis of DTF in all cases. Conclusion Diagnosing a desmoid tumor of the breast can be difficult, as it can mimic breast carcinoma. The Wide local excision is often the preferred treatment to prevent future recurrences. Introduction Desmoid-type fibromatosis (DTF), also known as aggressive fibromatosis, is a rare benign condition that can develop in various body parts, the most common being the extremities, abdominal wall, and intra-abdominal cavity [1]. Mammary DTF arises from fibroblasts and myofibroblasts within the breast tissue. It accounts for 0.2% of all breast tumors [1,2]. Although it does not metastasize, it is known for its local aggressiveness and high recurrence rate [2]. The term "desmoid" was introduced by Mueller in 1838, deriving from the Greek word "desmos," which refers to its tendon-like consistency. However, MacFarlane first described the disease in 1832 [3]. The DTF may occur sporadically or develop following surgical trauma, the implantation of silicone breast implants, or in association with Gardner's syndrome. While most cases of breast fibromatosis are reported in females, it can also occur in males [1]. It commonly affects individuals between 15 and 60 years of age, with the highest incidence occurring in the third and fourth decades of life [4]. Unpredictable and invasive growth patterns characterize the DTF. The tumor often proliferates during the early stages and may also accelerate due to pregnancy or hormonal changes. After this initial growth phase, many patients experience an extended period where the tumor remains stable [5]. Due to their rarity, desmoid tumors present a diagnostic and therapeutic challenge, as they often initially resemble breast carcinoma and have a high tendency for recurrence [6]. This study aims to describe and discuss the presentation and management of seven cases of breast DTF. All the references cited in this study were evaluated for eligibility [7]. Methods Study design and setting This single-center case series was conducted at the breast clinic of Smart Health Tower (Sulaymaniyah, Iraq). The patients were treated and managed between January 2021 and August 2024. Participants The study included all patients with confirmed breast DTF based on histopathological examination, while those with incomplete data were excluded. Data collection Data were collected from the hospital’s registry, including demographic details, clinical presentation, physical examination, medical history, breast ultrasound and mammography findings, core needle biopsy (CNB) and fine needle aspiration cytology (FNAC) results, histopathological examination (HPE), tumor size, magnetic resonance imaging (MRI) and computed tomography (CT) scan findings, types of surgeries performed, postoperative complications, follow-up duration, and recurrence. Intervention All patients underwent surgery under general anesthesia with the supine position following skin preparation and disinfection. The procedures involved making elliptical, radial, and semicircular incisions over the breast where the mass was suspected. After the skin was incised, a wide local excision (WLE) of the mass was performed. In one case, the mass extended into the chest wall muscles and involved two ribs, which were also excised. The long thoracic and thoracodorsal nerves were preserved in all cases. Lymph nodes from levels I, II, and III were removed. Hemostasis was achieved, a Redivac drain was inserted for each patient, and a chest tube drain was placed for one patient. The surgical site was then closed in layers. Histopathological examination and preparation Regarding pathologic examination, the specimens were fixed in 10% neutral buffered formalin for 24 hours prior to grossing. After that, the specimens were examined systemically, with appropriate sections taken from the tumors and the margins. The resultant blocks were then processed with the Sakura Histo-Tek VP1 automated processor using a standard 11-hour processing protocol through alcohol, xylene, and paraffin. Following embedding in paraffin and trimming, the blocks were sectioned onto regular glass slides, kept in an oven overnight, and then stained manually for hematoxylin and eosin (H&E) using Gill II hematoxylin. The slides were then dried, and coverslips were applied. For immunohistochemistry, the paraffin blocks were sectioned onto charged glass slides and kept in an oven overnight. Antigen retrieval was achieved through boiling using the Dako PT Link with a solution of pH 6 or 9, depending on the target antibody. The slides were then washed with buffer solution and welled using the Dako Pen, followed by blocking endogenous peroxidase using hydrogen peroxide. The primary antibodies were then applied, followed by the secondary antibody (horseradish peroxidase) and the chromogen (diaminobenzidine). Counterstaining was achieved using hematoxylin Gill II, followed by drying and applying coverslips. Data analysis The data were collected using an Excel spreadsheet (Microsoft Excel 2021). They were analyzed qualitatively with Statistical Package for the Social Sciences (SPSS) software (version 27.0) and presented as mean, range, frequencies, and percentages. Results This study included seven female patients with an average age of 35.29 ± 14.29 years, ranging from 18 to 61 years. All of the patients were unemployed, and five of them were married (71.43%). Five patients' medical histories were unremarkable (71.43%), while two patients (28.57%) had hypothyroidism. Three patients (42.86%) had previously undergone different types of breast surgeries. None of the patients had a family history of breast cancer. Among the clinical presentations, six patients (85.71%) had a non-tender palpable breast mass, while one patient (14.28%) experienced breast pain. Ultrasound showed hypoechoic lesions in all patients with BI-RADS 4 or 5 in four patients (57.14%). The average mass size was 29.43 ± 17.26 mm, ranging from 15 mm to 70 mm. In three cases (28.57%), MRI was used, revealing either heterogeneous or homogeneous masses. In one case (14.28%), a CT scan detected a mass in the chest wall with muscle invasion. A CNB was performed in 5 patients (71.43%), and FNAC of the axillary lymph node, which indicated benign lymphoid tissue, was performed in one patient (14.28%). Mammography was performed in only one case (14.28%), showing scattered fibro-glandular density and benign calcification. All patients underwent WLE of the breast mass. In one case (14.28%), surgery required rib excision due to chest wall invasion in a recurrent desmoid tumor. The HPE in all cases, along with immunohistochemistry in 5 cases, confirmed the diagnosis of DTF, with no evidence of lymph node metastasis (Fig. 1). The mean follow-up period was 1.51 ± 0.98 years, ranging from 0.7 to 3 years, with no reported recurrences (Table 1). Tab

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