Desmoid-type fibromatosis of the breast mimicking cancer

A 42-year-old woman presented to our hospital with an enlarging mass in the right breast. A clinical examination of the breast showed a palpable lump of 3 cm in the right upper inner quadrant, which was firm and easily movable under the skin. Mammography showed a lobular, high-density, spiculated mass in the right breast. On ultrasound, there was an irregular-shaped low-echoic mass with posterior echo attenuation and interruption of the anterior border of the mammary gland. Magnetic resonance imaging of the breast showed a lobulated mass with a spiculated margin. The mass was hypointense on a T1-weighted image, and hyperintense on a T2-weighted image. The preoperative diagnosis was desmoid-type fibromatosis, and an open biopsy was performed to rule out a malignant tumor. Frozen section examinations during surgery were conducted for confirmation or exclusion of cell atypia and a negative margin. Surgically removed specimens showed infiltrative proliferation of spindle cells associated with dense connective bundles. The spindle cells had low mitotic activity and no atypia, and were positive for alpha smooth muscle actin and nuclear beta-catenin in immunochemistry. A definitive diagnosis of breast desmoid-type fibromatosis was established based on these findings. She is now 4 years post-surgery and remains disease-free. On mammography, fibromatosis appears as an ill-defined, dense mass.

We described a previously healthy 27-year-old female in whom a desmoid tumor developed 2 years after a Roux-en-Y gastric bypass was performed for the treatment of obesity. Computed tomography scan demonstrated a 16-cm complex density intra-abdominal mass. Exploratory laparotomy was performed, revealing a mass firmly adherent to the Roux limb, as well as the jejunojejunostomy and distal portion of the bilopancreatic limb. En bloc resection of the mass and the Roux limb was required, as well as reconstruction of the Roux-en-Y anatomy. This case describes a unique, long-term complication of bariatric surgery, in light of a growing population of patients with altered gastric anatomy.

A 12-month-old girl was referred to clinical genetics to consider genetic testing because of a family history of familial adenomatous polyposis (FAP). Simultaneously, the child was undergoing investigation for an enlarging, non-tender lump on her back. The girl had previously had a lumbar puncture (LP) for suspected neonatal sepsis. MRI revealed a mass at L3/L4 (figure 1), and genetic testing confirmed the girl had inherited the familial APC mutation.

We report a case of an intraabdominal desmoid tumor that occurred at a gastro-pancreatic lesion with spontaneous cystic features, and present the successful laparoscopic resection of the tumor. A 20-mm retroperitoneal cystic mass with a solid component was found adjacent to the stomach and pancreatic body in a 52-year-old woman with no history of familial adenomatous polyposis. Laparoscopic spleen-preserving distal pancreatectomy with wedge resection of the stomach was performed, and complete resection was achieved without intraoperative and postoperative complications. Histopathological examination by immunohistochemistry enabled diagnosis of a desmoid tumor that had originated from the stomach and invaded the pancreatic parenchyma with a spontaneous cystic change. Regardless of its rarity, desmoid tumor should be included in the preoperative differential diagnosis of a cystic intraabdominal mass, and laparoscopic function-preserving surgery may be an optimal treatment option.

This article deals with the rare clinical observation of the patient with recurrent desmoid-type fibromatosis, who have achieved long-term stability after surgical treatment. A 24-year-old patient was diagnosed with retroperitoneal tumor which size was 8.8×5.6×13 cm in 2013, infiltrating the left psoas muscle, left kidney, left common and left external iliac arteries, descending colon and sigmoid colon. The patient underwent surgery in the volume of the tumor removal, resection of the left common iliac artery and prosthetics using GORE-TEX prosthesis, left hemicolectomy, left nephrectomy at Blokhin National Medical Research Center of Oncology. The first recurrence of the tumor was detected nine months after the surgery. Due to the subsequent growth of tumor mass, located along the left external iliac artery and in the inguinal canal, the repeated surgery was performed. Then the patient had a second relapse, and underwent surgery again. The third recurrence was detected seven months after the last surgery. During the multidisciplinary discussion, according to the absence of complaints and the small size of the recurrent tumor, as well as the absence of the risk of life-threatening complications, it was decided to stop on the observation. The patient was examined once every six months – there were no data concerning recurrent tumor growth. Today, the patient is alive, does not have any complaints and is able-bodied.

A 22-year-old man was admitted to our hospital with pain in the right lower quadrant. Abdominal enhanced CT showed a tumor in the pelvic cavity measuring 10 cm in size, invasion to the right external iliac vessels and the right ureter causing hydronephrosis. Volume rendering image showed many feeding vessels to the tumor from the right internal iliac artery and the ileocolic artery. The tumor was histologically diagnosed as desmoid tumor by CT-guided biopsy. Radical tumor resection and right hemicolectomy with combined resection of right ureter, right internal and external iliac vessels were performed. Diverting ileostomy, ureteroneocystostomy and bilateral femoral arteries bypass were performed, and complete tumor resection with a wide margin was able to be performed. Histological examination of the resected tumor revealed that it was comprised of uniform spindle cells arranged in flowing fascicles. Immunohistochemically, the tumor cells were positive for vimentin, beta-catenin and desmin, but not for S-100, caldesmon, CD34, ALK1, CD68 or STAT6. The tumor was histologically diagnosed as a retroperitoneal primary desmoid tumor. The ileostomy was closed 8 months after the surgery. The patient has been well more than 10 months after initial surgery, with no recurrence of disease. We report a rare case of retroperitoneal primary desmoid tumor that was treated by curative surgery with combined resection of multiple organs, while preserving postoperative anorectal and urinary functions.