Desmoid-type fibromatosis of the breast: a case report and literature review

Breast desmoid-type fibromatosis (BDF) is a rare tumor predominated by mesenchymal cells. It has a high recurrence rate, although distal metastasis is uncommon. It resembles breast cancer clinically, and histological pathology is the only approach to a confirmed diagnosis. Comprehensive and individualized treatments were recommended for BDF patients. Here, we presented a case of BDF secondary to primary breast carcinoma in our center. A 47-year-old female complained of a large mass in her left breast for 2.5 months. She has a past history of left breast carcinoma with a failure of surgical and systemic intervention. Despite an active re-operation, she still suffered from disease progression with a bad prognosis. After our report, the clinicopathological traits, differential diagnosis of BDF and current recommendation of management were discussed. This case report aimed to make a clear recognition of this rare and aggressive disease and elaborate up-to-date treatment recommendations. More effective drugs and larger sample clinical studies are encouraged for better management of refractory and progressive BDF.

Introduction: Diagnostic physicians tend to judge a low-dense area on computed tomography (CT) as central necrosis when it has no contrast enhancement and locates in the center of large tumors. Case Presentation: An 80-year-old woman was referred to our hospital due to the detection of an abdominal mass on ultrasound (US). CT showed a well-demarcated oval mass, 11 cm in size, with a central low-density area. US showed high internal echoes and enhanced posterior echoes. Magnetic resonance imaging (MRI) showed the low-density area on CT to be hypo-intense on T1-weighted images and hyper-intense on T2-weighted images. MRI further showed the central part of the tumor to be hyper-intense both on diffusion-weighted images and apparent diffusion coefficient images. Under the tentative diagnosis of a gastrointestinal stromal tumor with central necrosis, the patient underwent tumor resection, revealing the tumor to be a jejunal submucosal tumor. Pathological study showed collagen fibers with heterogeneous density and sparse proliferation of spindle cells. The center of the tumor had marked edema in addition to sparse collagen fibers. Immunostaining showed that the atypical cells were diffusely positive for β catenin and negative for S100 protein, desmin, and DOG1, leading to the diagnosis of desmoid tumor (DT). Conclusions: Physicians should note that intra-abdominal DT can have edematous loose collagen fibers and may show central necrosis-like findings on CT.

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Introduction: Desmoid tumors are soft-tissue neoplasms that can have profound impacts on the lives of people living with such diseases. As they are rare tumors, patients often have difficulty finding teams specialized in sarcomas and support networks. In low- and middle-income countries, the challenges are exacerbated due to a need for established networks and medication access. Discussion: In this setting, patient advocacy groups are important in supporting affected people. To this end, the Desmoid Tumor Brazilian Association (DTBA) was established to help mitigate those challenges. This paper highlights the perspectives of patients with desmoid tumors living in Brazil, obtained in a nationwide survey, and discusses aspects related to access to specialists, medications, education, and awareness in Brazil. Conclusions: The most commonly reported challenges in Brazil are access to educational material and specialists. The DTA continues to strive to improve support for people living in Brazil through initiatives such as Scientific and Educational Meetings, improving awareness, fostering science, and working on methods to facilitate access to medication and specialists.

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We present the case of a man in his 60s with hypertension, who had a 3-year history of an irreducible mass in the left inguinal area. The patient presented at the emergency room with left lower quadrant pain and scrotal pain. The clinical examination was not suggestive of an acute abdomen. A CT scan was done showing an anterior abdominal wall defect at the left inguinal region. The patient underwent exploratory laparotomy, ileal resection and anastomosis, mesh hernioplasty left for the mesenteric fibromatosis mass mimicking as an irreducible inguinal hernia. Histopathology and immunohistochemistry showed desmoid-type fibromatosis.