DISCUSSION
The histology specimen showed the presence of fusiform cells, without atypia (Fig. 3a and 3b). Imunohistochemical staining was positive for β-catenin (Fig. 3c) and negative for c-KIT, DOG-1, AE1/AE3, CD34, S100 protein, alfa-actin and MDM2.
igure 3. Patholohy: a and b – Presence of fusiform cells, without atypia (4x and 20x, respectively); c – imunohistochemical staining was positive for β-catenin (20x).
The patient underwent surgical resection of the tumor that included segmental enterectomy because of adhesions.
The surgical specimen pathology report confirmed the diagnosis of desmoid tumor with invasion of the small bowel wall.
Desmoid tumors are locally aggressive tumors with no known potential for metastasis. Despite being histologically benign, they are locally infiltrative and can cause death through destruction of adjacent vital structures and organs. [1, 2]
Desmoid tumors have been associated with episodes of antecedent trauma, such as previous abdominal surgery. [3, 4]
Emerging evidence implicates dysregulated wound healing in the pathogenesis of these fibroblastic lesions, with the involvement of the APC gene and β-catenin (both components of the Wnt signaling pathway). [5]
When possible, surgical resection is the treatment of choice[6]; however, recurrence is common (19–77%). [7, 8]
Definitive diagnosis of a desmoid tumor is only performed by histological examination (aided by immunohistochemistry).[9]In the hands of experienced pathologists, tissue from a core biopsy may be sufficient to make a diagnosis. For this reason, EUS-FNB plays a key role in the pre-operative diagnosis of this type of lesion. [10]
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- [8] Murphey MD, Ruble CM, Tyszko SM, Zbojniewicz AM, Potter BK, Miettinen M. From the archives of the AFIP: musculoskeletal fibromatoses: radiologic-pathologic correlation. Radiographics : a review publication of the Radiological Society of North America, Inc. 2009;29:2143-73.
- Li M, Cordon-Cardo C, Gerald WL, Rosai J. Desmoid fibromatosis is a clonal process. Human pathology. 1996;27:939-43.
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AUTHORS
Pedro Costa-Moreira1; Filipe Vilas-Boas1; Pedro Pereira1; Elisabete Rios2; Guilherme Macedo1
- Gastroenterology Department, Hospital Center São João, Porto
- Pathology Department, Hospital Center São João, Porto