Ruptured desmoid tumor in the jejunum

Abstract

Desmoid tumors, also known as aggressive fibromatosis, are extremely rare, accounting for less than 3% of soft-tissue sarcomas and less than 0,03% of all neoplasms. The diagnosis is usually delayed because of the lack of specific symptoms, and can sometimes lead to serious and, even fatal complications.

Case presentation

The case report was prepared following CARE guidelines. We present a 27-year-old male patient with complaints of pain in the lower right abdominal quadrant and suprapubic area with a duration of 4–5 h. The pain radiated to the right scrotum, and the patient noticed mucus at the end of micturition. Initially, the pain was colic, but at the moment of the physical examination, it was permanent, without nausea or vomiting. The patient reported an episode of fever up to 37,5 °C 2 days before, which quickly passed. The patient had no comorbidities or previous surgical procedures. The laboratory tests showed leukocytosis – a white blood cell count of 14,6 G/L, mild anemia – a hemoglobin level of 101 g/L, a red blood cell count of 3,5 T/L, a hematocrit level of 0,32; other parameters were within normal ranges. A urine test revealed the presence of protein, and there were red and white blood cells in the sediment. The X-ray of the abdomen showed only one air-fluid level with a small bowel origin. Ultrasound imaging did not demonstrate liquid behind the urinary bladder or additional abdominal pathology. Based on the findings, a diagnosis of appendicitis was suspected with the differential diagnosis of urinary tract disorders with cystitis. We admitted the patient to the hospital and began treatment with infusions of saline solutions, spasmolytics, and antibiotics. Despite this, the abdominal pain increased during the next 4 h, and signs of positive rebound tenderness (Blumberg’s sign) appeared.

Therefore, we decided to proceed with surgery without any further imaging investigations due to the highly probable diagnosis of acute appendicitis with spreading peritonitis. Abdominal exploration revealed a serohemorrhagic effusion of approximately 550 ml, which was aspirated. Surprisingly, a tumor formation involving the jejunum in its proximal third was found. The affected loop was situated near the ileocecal confluence. The mass consisted of cystic and solid areas. Macroscopically, it was difficult to determine the tumor origin – from the mesentery or the intestinal wall. In the cystic part, there was a necrotic zone with perforation, explaining the presence of hemorrhagic effusion in the abdominal cavity (Fig. 1a, b). The tumor was removed via resection of the small bowel, and the ex vivo dissection revealed a solid mass with ulceration located in the cystic sack (Fig. 2).

The histopathology of the specimen revealed an aggressive fibromatosis, which was removed with negative margins. The patient had no history of FAP or, Gardner’s syndrome, so the tumor was considered to be sporadic. Immunohistochemically, it was positive for β-catenin and negative for CD117 (c- kit). The histological and immunohistochemical findings are shown in Fig. 2.

The postoperative period was uneventful. A close follow-up with laboratory tests and ultrasound was performed every 6 months and computed tomography (CT) was carried out annually for 2 years. Subsequently, all the examinations were performed once a year. Until now (4 years since the operation), the patient has had no signs of recurrence.