Unusual Presentation of an Uncommon Malignancy: A 74-Year-Old Woman with Aggressive Fibromatosis of the Large Intestine Presenting as a Liver Mass and the Therapeutic Management

BACKGROUND Desmoid tumors are a fibroblastic proliferation of soft tissues, with an extreme inclination for local dissemination and recurrence. Surgical excision is the usual treatment choice, with data regarding pharmaceutical treatment being scarce. CASE REPORT A 74-year-old female patient was admitted to “Laikon” General Hospital of Athens, Greece presenting with acute kidney injury secondary to diarrhea. The ultrasound, CT, and abdominal MRI performed showed a 12×6×10 cm tumorous liver lesion. Biopsy of the lesion revealed loosely organized, mesenchymal tissue with spindle cells, and myxoid stroma. Immunochemistry was positive for SMA and b-catenin. Right hemicolectomy was performed with tumor-free surgical margins (R0 resection) and tamoxifen was initiated. Six months after the last MRI (3 months after the use of tamoxifen), a follow-up MRI was performed. The tumor had increased to 14.2×11×12.3 cm, and at the next follow-up it had grown to 20.3×19 cm maximal dimensions; no new metastases were found. The patient received sorafenib and pazopanib. Our patient had PFS with sorafenib for more than 2 years and remained in a good performance status (ECOG 1). For Pazopanid, the median PFS for this treatment option was 6.5 months. CONCLUSIONS The results were good and show a promising method for the treatment of this rare but severe malignancy.

Desmoid tumor (DT) is a rare benign soft tissue neoplasm that develops in the musculoaponeurotic structures, one-third of which involve the abdominal wall. Due to local aggressive infiltration of DT, the recurrence rate is approximately 45%-77%, according to the locations of the tumors, and 25%-50% for those with unclear surgical margins. Limited by adverse effects of radiotherapy and chemotherapy, surgical excision is still the standard management recommended. Differing from traditional midline or abdominoplasty access, we applied a fleur-de-lis miniabdominoplasty access in a 37-year-old woman who had primary abdominal wall DT with less than 1 cm depth from the umbilicus. The approach not only provides a better surgical field for radical tumor excision but also eliminates redundant skin and dog-ear formation at bilateral flanks. An appropriate surgical margin could be processed simultaneously when the tumor was close to the skin surface. After abdominal wall reconstruction, the postoperative course was uneventful, and no DT recurrence or incisional hernia was noted during the follow-up. The patient was satisfied with the tumor treatment and aesthetic outcome.

Mesenteric fibromatosis (MF) is a proliferative fibroblastic lesion of the intestinal mesentery. It constitutes 8% of all desmoid tumors, representing 0.03% of all neoplasms. It is benign histologically, although it could infiltrate locally and recur following excision; however, it is free from the potential to metastasize. It is spontaneous or associated with familial adenomatous polyposis (FAP]) mutation as a part of Gardner’s syndrome. This case report discusses the radiological, intraoperative, and histopathological findings from a 45-year-old male patient who presented with abdominal pain and a palpable mass in the left hemiabdomen. The pain was dull and aching, extending to the back and unrelated to any other gastrointestinal symptoms. There was no history of severe weight reduction. Furthermore, he is not a smoker. There were no comorbidities, severe medical diseases, or prior surgical procedures. Computerized tomography revealed a well-defined, lobulated, heterogeneously enhancing altered signal intensity mass at the mesocolon. Ultrasonography of the abdomen showed an intra-abdominal mass. Macroscopic mass characteristics include a well-defined mass measuring 22 × 14 × 11 cm connected to a small intestine segment measuring 21 × 2 × 2 cm. Histopathological and immunohistochemical examinations of the resected tumor, including positive nuclear immunostaining for beta-catenin, confirmed a postoperative diagnosis of desmoid-type fibromatosis. Based on its clinical presentation and computed tomography results, this case demonstrated how desmoid-type fibromatosis of the colon might mimic gastrointestinal stromal tumors (GISTs). Due to the varied therapies and follow-up methods used for these lesions, the differential diagnosis between desmoid-type fibromatosis and GIST is clinically significant.

Introduction: Desmoid fibroma (DF) is a disorder characterized by strong clonal proliferation of myofibroblasts and fibroblasts. We describe a case of DF that mimicked a breast tumor, along with a review of the literature on the clinical manifestation, diagnostic process, and course of therapy for this combative disease.

Case report: A 34-year-old female patient with breast lump at the junction of the upper quadrants of the left breast. After the diagnosis of DF, it was decided to perform a sectorectomy of the left breast associated with post-quadrant reconstruction, with immunohistochemistry and findings compatible with DF.

Discussion: Clinically manifests as a solid mass that is often painless and occasionally adherent to the chest wall. A treatment strategy should be idealized for each patient. Thus, there is the possibility of performing radical surgery for resection and/or radiotherapy, and surgery may be followed by radiotherapy.

Capillary leak syndrome is a rare life-threatening disorder of acute endothelial hyperpermeability. It consists of initial fluid extravasation resulting in hypotension, hypoalbuminemia, and hemoconcentration, followed by noncardiogenic pulmonary edema from rapid fluid remobilization into intravascular compartment. Drug-induced etiology is an important diagnostic consideration in cancer patients, particularly with use of antimetabolites, immunostimulants, and monoclonal antibodies. Sorafenib-mediated capillary leak syndrome has never been reported. Here, we present the case of a 29-year-old female patient with a desmoid tumor of the thigh, who was admitted for acute hypoxic respiratory failure after recent initiation of sorafenib. She was found to have extensive pulmonary edema, bilateral pleural effusions, and hemoconcentration, all of which stabilized on supportive care with noninvasive mechanical ventilation and intravenous diuresis. Her infectious and cardiac work-up were negative. Given the temporal relationship between sorafenib use and symptom onset as well as a lack of an alternative etiology of her findings, patient was deemed to have sorafenib-induced acute capillary leak syndrome. Importantly, she did not become hypotensive prior to or during this hospitalization. To our knowledge, we reported for the first time an atypical presentation of acute capillary leak syndrome due to sorafenib use without hemodynamic instability.

Traumatism and surgery are often found in the medical history of patients with sporadic desmoid tumors, as the recent article of the Mannheim Sarcoma Team has shown for 38.3% of patients. Still, it is not possible to establish a direct causality. Decoding the host environment can provide a more precise definition of any causal relationship.