Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

BACKGROUND: Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case. CASE PRESENTATION: A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks' gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year. CONCLUSIONS: Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

Intra-abdominal desmoid tumor and chronic inflammatory bowel disease. An uncommon scenario.

We present the case of a patient with an inflammatory bowel disease to whom a pelvic desmoid tumor is discovered during an infertility study.

Desmoid-type fibromatosis mimicking cystic retroperitoneal mass: case report and literature review.

BACKGROUND: Retroperitoneal desmoid-type fibromatosis (DF) is an uncommon mesenchymal neoplasm presenting as a firm mass with locally aggressive features. It usually manifests as a well-circumscribed or ill-defined, solid mass on cross-sectional imaging. Cystic changes of DF have been described in the literature in association with prolonged medical treatment or abscess formation. However, spontaneous cystic change is rarely reported. CASE PRESENTATION: Here we report the case of a 46-year-old patient with a DF mimicked a large cystic tumor in the retroperitoneum. Ultrasonography and computed tomography were performed in order to search for localizations and characteristics of the cystic tumor. Radiological findings showed an oval cystic mass with a relatively thick wall, measuring 18.3 × 12.3 × 21.5 cm in the left upper abdomen. Laparoscopic spleen-preserving distal pancreatectomy was performed and histopathological examination by immunohistochemical study enabled us to diagnose a DF invading the pancreatic parenchyma. The patient remained asymptomatic during an 8-month follow up period. CONCLUSIONS: We report an extremely rare case of retroperitoneal DF with spontaneous cystic change. DF can manifest as a mainly cystic mass with a thick wall, as in our case, which makes the correct diagnosis difficult. DF should be included in the preoperative differential diagnosis of a cystic retroperitoneal mass, regardless of its rarity.

Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report.

BACKGROUND: Desmoid tumors, which are associated with familial adenomatous polyposis (FAP), tend to occur frequently in the abdominal wall and mesentery. Currently, there are no recognized treatments other than surgery, and frequent surgeries result in gastrointestinal obstructions and functional gastrointestinal disorders. CASE PRESENTATION: After surgery that was performed on a 39-year-old patient with FAP, we performed a second tumor excision which was the procedure used for frequently occurring mesenteric desmoid tumors. It was determined that the enlarged tumor would be difficult to operate on through an abdominal incision. Subsequently, the carbon ion radiotherapy of 50 Gy was then performed on the patient. Three years later, the tumor still remains reduced in size. In addition, we have not observed any negative effect on the digestive tract. CONCLUSIONS: This is the first instance that the carbon ion radiotherapy has been effective for the unresected desmoid tumor, and it is believed that this will become the one effective option for the treatment of desmoid tumors.

An Aggressive Retroperitoneal Fibromatosis.

INTRODUCTION: Aggressive fibromatosis (AF) is a heterogeneous group of mesenchymal tumors that have locally infiltrative growth and a tendency to relapse. The clinical picture is often conditioned by the obstruction of the ureter or small intestine. Diagnosis is based on clinical, radiological and histological parameters. A CASE REPORT: We report a case of male patient, aged 35 years, with the retroperitoneal fibromatosis. He reported to the physician because of frequent urination with the feeling of pressure and pain. Computed tomography revealed the tumor mass on the front wall of the bladder with diameter of 70mm with signs of infiltration of the musculature of the anterior abdominal wall. Endoscopic transurethral biopsy showed proliferative lesion binders by type of fibromatosis. The tumor was surgically removed in a classical way. The patient feels well and has no recurrence thirty-six months after the operative procedure. CONCLUSION: The complete tumor resection is the therapeutic choice for the primary tumor as well as for a relapse.

Intra-abdominal fibromatosis: differentiation from gastrointestinal stromal tumour based on biphasic contrast-enhanced CT findings.

AIM: To identify the computed tomography (CT) criteria that differentiate intra-abdominal fibromatosis (IAF) from gastrointestinal stromal tumour (GIST). MATERIALS AND METHODS: CT images of 34 pathologically proven cases of IAF (n = 15) and GIST (n = 19) were retrospectively reviewed. Location, contour, border, enhancement pattern, presence of necrosis, vessels, and air within the lesion were analysed. Long diameter (LD), short diameter (SD), LD/SD ratio, degree of enhancement, and lesion/aorta (L/A) CT attenuation ratio were measured and calculated. Significant CT criteria were identified using Fisher's exact test, grouped t-test, and receiver operating characteristic (ROC) curve. Sensitivity and specificity values were calculated when single or multiple CT criteria were used. RESULTS: Extra-gastrointestinal location, ovoid or irregular contour, homogeneous enhancement, absence of intra-lesional necrosis, lower degree of enhancement, and L/A CT attenuation ratio differentiated IAF from GIST (p < 0.05). When any three of these eight criteria were combined, the sensitivity and specificity for diagnosing IAF were 100% (15 of 15) and 89.5% (17 of 19), respectively. CONCLUSION: The following eight CT criteria are helpful to differentiate IAF from GIST: extra-gastrointestinal location, ovoid or irregular contour, homogeneous enhancement, absence of intra-lesional necrosis, a degree of enhancement of less than 40.5 HU in the arterial phase versus 46.5 HU in the portal venous phase, and an L/A CT attenuation ratio <0.315 in the arterial phase versus 0.525 in the portal phase.

Surgical resection for non-familial adenomatous polyposis-related intra-abdominal fibromatosis.

BACKGROUND: Intra-abdominal fibromatosis (IAF) in the context of familial adenomatosis polyposis (FAP) is associated with significant morbidity and high recurrence rates after surgical resection. Non-surgical treatments are therefore advocated. This study explored outcomes in patients with IAF not associated with FAP who underwent surgical resection. METHODS: Data were analysed from a prospectively collected database at a sarcoma tertiary referral centre. RESULTS: From 2001 to 2011, 15 patients without FAP underwent primary curative surgical resection of IAF. Their median (range) age was 42 (19-64) years. Median tumour size was 18 (8.5-25) cm and weight 1306 (236-2228) g. Complete macroscopic clearance was obtained in all patients. There were no deaths in hospital or within 30 days and only one patient developed a major complication. Median follow-up was 40 (6-119) months. During follow-up two patients developed a recurrence after a disease-free interval of 12 and 16 months. CONCLUSION: In contrast to FAP-associated IAF, non-FAP-associated IAF has a very low recurrence rate after surgical resection. Surgical resection is therefore advocated as first-line treatment in patients with non-FAP-associated IAF when resection can be performed with low morbidity.

Can combined 18F-FDG-PET and dynamic contrast-enhanced MRI predict behavior of desmoid tumors in patients with familial adenomatous polyposis?

BACKGROUND: Desmoid tumors associated with familial adenomatous polyposis show variable behavior; about 10% grow relentlessly, resulting in severe morbidity or mortality. Investigations that could identify the minority of desmoid tumors that behave aggressively would allow these tumors to be treated early and spare the majority of patients who have more benign disease from unnecessary intervention. OBJECTIVE: The aim of this study was to investigate whether imaging the tumor metabolic-vascular phenotype by modern methods predicts growth. DESIGN: This is a prospective case series study. SETTINGS: The study was conducted at a tertiary center specializing in familial adenomatous polyposis and desmoid disease. PATIENTS: Nine patients with familial adenomatous polyposis (4 male, mean age 39 years) with desmoid tumor underwent 18F-FDG-PET and dynamic contrast-enhanced MRI. Standard MRI was repeated a year later to assess tumor growth. MAIN OUTCOME MEASURES: The primary outcome measured was the correlation between 18F-FDG-PET and dynamic contrast-enhanced MRI parameters and subsequent desmoid growth. RESULTS: Failed intravenous access precluded dynamic contrast-enhanced MRI in 1 female patient. Thirteen desmoid tumors (4 intra-abdominal, 2 extra-abdominal, 7 abdominal wall; mean area, 68 cm) were analyzed in the remaining 8 patients. Two patients died before follow-up MRI. Five tumors decreased in size, 3 increased in size, and 3 remained stable after a year. Significant correlation (Spearman rank correlation, significance at 5%) existed between maximum standardized uptake value and k(ep) (r = -0.56, p = 0.04), but not with other vascular parameters (K(trans) (r = -0.47, p = 0.09); v(e) (r = -0.11, p = 0.72); integrated area under the gadolinium-time curve at 60 seconds (r = -0.47, p = 0.10)). There was no significant difference in the maximum standardized uptake value or dynamic contrast-enhanced MRI parameters (K(trans), v(e), k(ep), integrated area under the gadolinium-time curve at 60 seconds) between the tumors that grew or decreased in size or between the tumor sites. However, vascular metabolic ratio (maximum standardized uptake value/K(trans)) was significantly different for tumor site (p = 0.001) and size (p = 0.001, 1-way ANOVA). LIMITATIONS: This investigation is limited because of its exploratory nature and small patient numbers. CONCLUSIONS: Although not predictive for tumor behavior, some correlations existed between dynamic contrast-enhanced MRI and 18F-FDG-PET parameters. Vascular metabolic ratio may provide further information on tumor behavior; however, this needs to be evaluated with further larger studies.

Large desmoid tumour of the small bowel mesentery.

A 74-year-old man was being investigated for a pancreatic insulinoma when an incidental mesenteric mass measuring 2.6 cm x 2.5 cm was noticed on CT imaging. A wait-and-see approach was decided on. Thirty-nine months later, the patient presented with symptoms of abdominal obstruction. CT images revealed the mesenteric mass filled majority of the abdominal cavity and measured 29 cm x 26 cm x 16 cm. The patient underwent an open bypass gastrojejunostomy which stopped working a few weeks later due to further compression by the tumour. A debulking surgery was performed: a right hemicolectomy and small bowel resection with excision of the desmoid tumour and bypass gastrojejunostomy. The tumour measured 12.6 kg and was macroscopically visualised to have a white cut surface with a focal translucent area. Microscopic analysis revealed bland spindle cells with pale eosinophilic cytoplasm showing no cytological atypia, in keeping with a mesenteric desmoid tumour. Currently, two and a half years from the debulking surgery, the patient remains well and in remission with planned surveillance.

A Giant Solid-Cystic Mesenteric Fibromatosis with Unusual Synchronous Skin Fibromatosis.

Mesenteric fibromatosis (MF) is a rare, locally aggressive tumor without distant metastasis, which has a high recurrence rate. Based on its location, it is classified as intra-abdominal, from abdominal wall, and extra-abdominal. The incidence of cystic-solid, retroperitoneal tumors is very low in comparison to other MF forms. Intra-abdominal MFs are asymptomatic in early stages, but their symptoms appear late in the tumor course. There is no specific imaging finding since radiological diagnosis is mostly impossible. Thus, diagnosis is made histopathologically. Nowadays, there is no consensus about its treatment although surgical resection is widely used. In the present study, a very rare case of cystic-solid retroperitoneal MF associated with separate synchronous skin tumors is reported.

Giant desmoid tumour of abdominal wall: resection and reconstruction by posterior component separation.

Management of large abdominal wall desmoid tumours is complicated due to the unpredictable behaviour of desmoids and the need for laborious reconstruction of the abdominal wall after wide local excision. A multidisciplinary team approach, including surgeons, oncologists and plastic surgeons, is necessary for proper management. This case highlights the diagnostic and surgical challenges related to the reconstruction of abdominal wall defect, after radical excision of a 30×30×25 cm desmoid tumour, originating from left rectus muscle. The defect was closed successfully by a perspicuous technique of posterior component separation. The awareness of this straightforward technique will allow the surgeons to do these radical procedures with confidence and without any consternation of complex reconstructive procedures.

Sporadic intra-abdominal desmoid tumor with a very unusual onset: two case reports.

BACKGROUND: Intra-abdominal desmoid tumors are rare soft tissue tumors that arise mainly in the mesentery and pelvis. Their etiology may include genetic mutations, estrogen-associated changes after childbirth, and mechanical factors such as a history of abdominal surgery. However, there are cases of intra-abdominal desmoid tumors that develop in the absence of such causes. Since they are rare, diagnosis is often difficult based on clinical findings. We encountered two cases of patients with sporadic intra-abdominal desmoid tumors with a very unusual onset and contrasting features. CASE PRESENTATION: The first patient was a 51-year-old asian man who presented with sudden onset of abdominal pain. He was referred to our department because of a giant tumor detected on abdominal ultrasonography. Imaging revealed a 19-cm tumor with internal tumoral hemorrhage; however, no definitive diagnosis was made. Tumor resection was performed for diagnostic and therapeutic purposes. The second patient was a 41-year-old asian man, and right hydronephrosis was detected on abdominal ultrasonography during a periodic medical checkup. We diagnosed invasion of the primary mesenteric tumor into the right ureter using diagnostic imaging and performed ileocecal resection with partial right ureteral resection for a definitive diagnosis and therapeutic purposes. Although the tumors of both patients had developed from the ileal mesentery, the tumors were substantially different from each other based on their imaging findings, macroscopic morphology, and progression pattern. Meanwhile, they showed similar pathological characteristics. Both consisted of bundles of collagen fibrils of spindle-shaped fibroblasts with low cell atypia. Moreover, they were diagnosed as desmoid tumors using positive immunohistochemical staining for ß-catenin. CONCLUSIONS: Neither patient had susceptibility factors for desmoid tumors, and to our knowledge, there have been very few reports to date of intra-abdominal desmoid tumors that were diagnosed because of acute abdominal pain caused by tumoral hemorrhage or asymptomatic obstructive uropathy. Furthermore, it is clinically interesting that the two patients showed contrasting progression patterns and imaging findings. Intra-abdominal desmoid tumors are rare and may present with various symptoms and findings similar to those observed in our patients. Diagnosis therefore requires experience and knowledge that is not bound by preconceptions.

Surgical management of a giant abdominal wall desmoid tumour.

Desmoid tumours are clonal fibroblastic proliferations in soft tissues, characterised by infiltrative growth and local recurrence, but not metastasis. Various treatment strategies for desmoid tumours exist, varying from observation, medical and systemic therapy to radiotherapy and surgery. A 25-year-old woman with a background of familial adenomatous polyposis was referred with an enlarging abdominal desmoid tumour measuring 40×40×40 cm despite repeated radiofrequency ablation, surgical debulking and hormone therapy. The patient had a two-stage operation. The first stage involved excision of the desmoid tumour with full-thickness abdominal wall. The abdominal wall was not closed, and a topical negative pressure seal was applied. After 2 days, she underwent the second stage: reconstruction of the abdominal wall defect with a large porcine mesh which was covered with anterolateral thigh flaps. Postoperative complications included ileus and a fall which required further surgery. The patient was discharged 1 month after the first operation. Abdominal MRI scans were performed at 3 and 7 months postdischarge and showed no recurrence of diseaseBackground.

Intra-abdominal small intestinal desmoid tumour mimicking GIST.

Desmoid tumours, also known as aggressive fibromatosis, are fibromuscular neoplasms that arise from mesenchymal cell lines. Desmoid tumours are usually benign and are locally aggressive tumours. We report a case of a 31-year-old man presenting with abdominal mass associated with dyspepsia and early satiety. CT scan demonstrated a large heterogeneous mass adherent to or arising from the jejunum. The patient underwent a successful elective exploratory laparotomy with resection of the tumour arising from the wall of the ileum with a 10 cm margin. The patient had an uneventful recovery and no recurrence at 6-month follow-up. Pathology report and immunohistochemistry analysis revealed the mass to be a primary desmoid tumour of the small bowel, as the tumour was negative for c-kit and Discovered on GIST 1 (DOG-1) and positive for beta-catenin and smooth muscle actin.

Familial adenomatous polyposis associated with desmoid tumors presenting with abdominal abscess: A case report and literature review.

RATIONALE: Familial adenomatous polyposis (FAP) associated with desmoids tumors (DTs) complicated by abscess formation is rare. The management is not easy and the choice of the best treatment may be controversial. PATIENT CONCERNS: A 33-year-old man was admitted to our hospital for abdominal pain, fever, chills, nausea, and vomiting. He had a family history of FAP, and history of abdominal surgery. DIAGNOSES: An abdominal enhanced chest computed tomography (CT) scan revealed a soft tissue mass in the abdominal wall and an irregular mesenteric soft tissue mass with internal fistula and intra-abdominal abscess. A CT-guided biopsy of the abdominal wall mass revealed DTs. INTERVENTIONS: The patient was given oral antibiotics for 6 months, and ultimately underwent surgery. OUTCOMES: The patient had no evidence of recurrence on follow-up at 10 months. LESSONS: This case indicates that for patients with FAP who have a history of abdominal surgery and a progressively enlarging mass and abscess in the abdomen, it is necessary to consider the possibility of DTs. FAP-related DTs are rarely complicated by abscess formation. Antibiotic therapy plus surgical resection of the tumor may be effective and make good prognosis.

Retroperitoneal fibromatosis presenting as a mesenteric mass: A case report.

RATIONALE: Fibromatoses or desmoid tumors are relatively rare tumors derived from the musculoaponeurotic system. This tumor has no specific clinical symptoms and it is sometimes misdiagnosed as other diseases such as gastrointestinal stromal tumors (GISTs). PATIENT CONCERNS: A 28-year-old man visited Peking Union Medical College for a tangible abdominal mass without abdominal pain or distention. DIAGNOSES: Considering the imaging characteristics and clinical manifestation, this mass was primarily diagnosed as GIST before surgery. During the surgery, the occupancy was found under the ileocecal mesentery, with grayish white appearance, tough texture, and poor mobility, which was not consistent with the character of the GIST. After the surgery, pathological examination and individual immunohistochemistry results demonstrated that the lesion was compatible with the diagnosis of retroperitoneal fibromatosis with purulent inflammation of chronic lymphadenitis. INTERVENTIONS: Therefore, we decided to perform tumor mass resection, right colon resection, partial duodenum resection, and intestinal anastomosis on laparotomy, but the right ureter was retained. After excision of the tumor, the ends of the intestine segment were continuously sutured. OUTCOMES: The patient experienced no intraoperative or postoperative complications, and was discharged 3 days after surgery. Periodic follow-up physical examinations such as the abdominal ultrasound and computed tomography were performed each 3 months, and no evidence of recurrence was observed during the whole 12 months. LESSONS: To sum up, intra-abdominal fibromatosis is an extremely rare tumor that must be differentiated from other tumors of the digestive tract, and pathological and immunohistochemical examination is a critical part of the diagnosis. Early diagnosis of fibromatosis is essential for the outcome. Extensive resection of the mass minimizes the risk of relapse.

Differentiation of intra-abdominal desmoid tumor from peritoneal seeding based on CT and/or 18F-FDG PET-CT in patients with history of cancer surgery.

PURPOSE: To investigate differential imaging features of intra-abdominal desmoid tumors and peritoneal seeding in patients with history of cancer surgery. METHODS: Thirty-two patients who had a single pathologically proven intra-peritoneal lesion that developed after cancer surgery were enrolled between January 2000 and June 2019. There were 16 desmoid tumors and 16 peritoneal seeding lesions. Portal phase CT and/or 18F-FDG PET findings were analyzed by two radiologists in consensus for the following items: location, size, shape, margin, contour, homogeneity, necrosis, adjacent organ invasion, calcification, intra-lesional fat, peritoneal infiltration, mass effect, and degree of enhancement. Hounsfield units (HU) and maximum standardized uptake values (SUVmax) of the lesions were measured. Imaging findings were compared using the Chi square test, Fisher's exact test, and student t test. RESULTS: Desmoid tumors frequently showed well-defined margins (9/16) and smooth contours (12/16), whereas peritoneal seeding had ill-defined margins (13/16) and lobulated contours (11/16) (P = 0.028 and 0.013, respectively). Intra-lesional fat was found more frequently in desmoid tumors (7/16) than peritoneal seeding (1/16) (P = 0.014). Desmoid tumors showed iso-attenuation (13/16) compared to psoas muscle in portal phase, while peritoneal seeding depicted high attenuation (12/16) (P = 0.002). Mean HU was significantly lower in desmoid tumors (64.3) than peritoneal seeding lesions (95.1) (P = 0.001). However, the mean SUVmax of desmoid tumors (4.1) did not significantly differ from peritoneal seeding lesions (5.2) (P = 0.519). CONCLUSION: Several CT features including iso-attenuation in portal phase and presence of intra-lesional fat can be helpful in differentiating desmoid tumors from peritoneal seeding in patients with history of intra-abdominal cancer surgery.

Chest wall and intrathoracic desmoid tumors: surgical experience and review of the literature.

Desmoid tumors are fibroblastic/myofibroblastic neoplasms, which originate from musculo-aponeurotic structures and are classified as deep fibromatoses. Despite their benign histologic appearance and lack of metastatic potential, desmoid tumors may cause aggres?sive local infiltrations and compression of surrounding structures. They are often associated with female gender, familial adenomatous polyposis (FAP) and sporadically may occur at sites of previous trauma, scars or irradiation. Molecular studies have demonstrated that these patients are associated with a bi-allelic APC mutation in the affected tissue. Radical tumor resection with free margins remains the first therapy of choice. In cases with anatomical or technical limitations for a wide excision, radiation therapy represents a proven and effective alternative or supplementary treatment.