Desmoid-type Fibromatosis of the Breast Mimicking Carcinoma

A 43-year-old female with left-sided mastodynia was referred to our department for magnetic resonance imaging (MRI). Her surgical history included an excisional biopsy of a fibroadenoma in the left breast. On MRI, no explanation for the clinical complaints could be found. However, an enhancing stellate lesion (7 mm) at 9 oÂ’clock in the contralateral right breast was noted. On mammography of the right breast, a focal asymmetric density with spiculated margins was seen in the superolateral quadrant. There were no associated microcalcifications or suspicious lesions elsewhere. A second-look ultrasound in this region demonstrated a small oval hypoechoic mass (4 mm) with partially obscured borders. This lesion was categorized as a BI-RADS 4b lesion, and core needle biopsy was advised. Histological analysis revealed an infiltrative stromal process with interlacing bundles of fibroblast and myofibroblast, suggestive for a desmoid tumor. Wide excision was recommended and confirmed fibromatosis. A desmoid tumor can occur anywhere in the breast, but tends to be in close proximity to the pectoralis major muscle, arising from the pectoral fascia. Patients can be asymptomatic or present with a painless and firm mass. The lump may be fixed to the chest wall if originating from the pectoral fascia. Occasionally, associated skin thickening and retraction is noted. Imaging characteristics are non-specific. On ultrasound, mammography and MRI, fibromatosis manifests as a suspicious solid mass with irregular and spiculated borders, making it difficult to differentiate from primary breast malignancy. Treatment consists of wide local excision, considering the high local recurrence rate after incomplete surgical resection. Desmoid-type fibromatosis is a mimicker of malignancy, with suspicious morphological findings on all imaging modalities due to the local infiltrative characteristics. Dynamic features on MR imaging may suggest a benign entity, but nonetheless, a biopsy remains the appropriate approach to rule out a primary breast tumor.

We report a young male patient with a recurrent desmoid tumor of the anterior abdominal wall who underwent resection four times earlier. The patient had a history of four-time operation over the same site for the same disease. Preoperative evaluation included thorough clinical examination with abdominal ultrasound. The histology revealed a desmoid tumor. Primary surgical resection and immediate reconstruction of abdominal defect were performed.

A recent clinical trial shows that sorafenib is effective against desmoid tumors. The study found that 33% of tumors shrank in patients who received the drug. The estimated 1-year progression-free survival for the sorafenib-treated patients was 89%, and the 2-year rate was 81%.

Dumbbell-shaped tumor is a type of the inner and outer cervical spinal canal tumor, and most of them are neurogenic tumors. Desmoid tumor is a rare tumor, and no case of them involving intervertebral foramen formed dumbbell-shaped in cervical spine have been reported before in English literature. Here we report a case of desmoid tumor arising in the cervical spine which is presented as typical dumbbell-shaped tumor. A 47-year-old female was admitted to our Dept with a mass in her left neck. The tumor was initially thought to be a neurogenic cervical dumbbell tumor based on physical and radiological examination. Postoperative HE and immunohistochemical staining verified the diagnosis of a cervical dumbbell desmoid tumor, which had never been reported before. Desmoid tumors in the head and neck may present as cervical dumbbell-shaped tumors. Before the treatment plan was undertaken, thorough examinations including surgical pathology were necessary.

A 31-year-old woman developed worsening pain and paresthesia in the neck, shoulder, and arm over a period of 6 years. Magnetic resonance imaging revealed a soft-tissue mass in the subscapular region, with likely involvement of the scapula and the subscapularis muscle. The mass was resected, and the final histologic diagnosis was desmoid-type fibromatosis. Desmoid tumors with subscapularis muscle involvement are exceedingly rare. Although limited range of motion is the more common presentation for these tumors, this case demonstrates that desmoid tumors may present with primarily neurologic symptoms.

Desmoid-type fibromatosis can arise in patients with familial adenomatous polyposis (FAP), therefore patients with desmoids often undergo colonoscopy to rule out FAP. Because finding FAP is uncommon, we sought to define subsets of desmoid patients in whom colonoscopy frequently identified FAP. Patients with desmoid-type fibromatosis were identified from surgery and pathology databases at a single institution, and information on colonoscopy and FAP diagnosis was collected retrospectively. CTNNB1 mutation status was defined by Sanger sequencing and digital polymerase chain reaction of archived specimens. Among 626 patients with desmoids, 26 were diagnosed with FAP. In 20 patients, FAP diagnosis predated the desmoid diagnosis. Among patients without prior FAP diagnosis, 161 underwent colonoscopy, which identified only six cases of FAP (diagnostic yield 3.7%). Yields were substantially higher among patients with four characteristics: age?<?40 years (11% yield), intra-abdominal or retroperitoneal tumors (5.4%), multifocal disease (29%), and family history (8%) (all p?<?0.001). CTNNB1 mutation status was available in 82 patients with known FAP status. None of the 61 patients with CTNNB1 mutations were diagnosed with FAP, while 7 of the 21 patients with no CTNNB1 mutation detected (24%) were FAP patients. Patients with desmoid-type fibromatosis and undiagnosed FAP generally have multiple risk factors, which may be used to selectively recommend colonoscopic screening. Routine CTNNB1 sequencing may also rule out FAP and allow for deferral of colonoscopy.