Ruptured desmoid tumor imitating acute appendicitis – a rare reason for an emergency surgery

Abstract

Background: 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: We report the case of a 27-year-old male patient presenting with the clinical picture of acute appendicitis. During the operation, we found a tumor in the jejunum with a necrotic zone and perforation on its surface, causing hemorrhagic effusion into the abdominal cavity and subsequent peritonitis. The tumor was removed with negative margins via resection of the small bowel. The final histological result showed aggressive fibromatosis. Conclusions: Aggressive fibromatosis remains a serious problem with the possibility of locally aggressive behavior with high rates of recurrence. Sometimes, its clinical and macroscopic recognition can be immensely tricky. As shown by our patient, on rare occasions, desmoid tumors can lead to acute surgical abdomen requiring an emergency operation.

Aggressive fibromatosis of the right colon mimicking a gastrointestinal stromal tumour: a case report

“…3 These tumours have been classified into four groups: (i) tumours with spontaneous resolution; (ii) tumours with cycles of progression and resolution; (iii) tumours that remain stable; and (iv) neoplasms with aggressive progression. 5 Intra-abdominal desmoid tumours are locally aggressive lesions, which can cause ureteric and intestinal obstruction, or vascular and neural compression. 5 Complications occur if mesenteric vessels or abdominal organs are involved with consequent ischaemia, perforation, fistula formation and gastrointestinal or intratumoral bleeding.…”

“…A definite diagnosis of mesenteric fibromatosis is based on microscopic and immunohistochemical examination. 5 In doubtful cases, expression of beta-catenin helps in the differential diagnosis. 2 Desmoids do not express CD34 and S100 protein, in contrast to GISTs.…”

“…3 These tumours have been classified into four groups: (i) tumours with spontaneous resolution; (ii) tumours with cycles of progression and resolution; (iii) tumours that remain stable; and (iv) neoplasms with aggressive progression. 5…”

“…In this regard, intra-abdominal desmoid tumours present a diagnostic challenge and should be considered in cases where mesenchymal tumours are attached to the bowel wall with mesenteric involvement. 5 In addition, the typical MRI and CT appearance of this rare entity could help in the preoperative distinction between DTF and more common gastrointestinal stromal tumours.…”

“…2 In contrast, large GISTs are mostly inhomogeneous tumours with frequent central zones of necrosis and haemorrhage. 5 MRI is the preferred imaging modality for the diagnosis of DTF as these lesions are mainly hypointense on T1-weighted images with variable signal intensity on T2-weighted images. 2,6 In the majority of cases, DTF are hypointense on T2-weighted images due to a rich fibrous content as compared with GISTs, which are commonly slightly hyperintense.…”