Desmoid type fibromatosis: A case report with an unusual etiology

Desmoid type fibromatosis(DTF) is a rare, locally invasive, non-metastasizing soft tissue tumor. We report an interesting case of DTF involving the pancreatic head of a 54-year-old woman. She presented with intermittent dysphagia and significant weight loss within a 3-mo period. Laboratory findings showed mild elevation of transaminases, significant elevation of alkaline phosphatase and direct hyperbilirubinemia, indicating obstructive jaundice. Computerized tomography of the abdomen revealed a mass in the head of the pancreas, dilated common bile duct, and dilated pancreatic duct. Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound showed a large hypoechoic massin the head of the pancreas causing extrahepatic biliary obstruction and pancreatic ductal dilation. The patient underwent a successful partial pancreatico-duodenectomy and cholecystectomy. She received no additional therapy after surgery, and liver function tests were normalized within nine days after surgery. Currently, surgical resection is the recommended first line treatment. The patient will be followed for any recurrence.

Updates on abdominal desmoid tumors

Desmoid tumor is a monoclonal, f ibroblastic proliferation arising in musculoaponeurotic structures. This connective tissue hyperplasia inf iltrates locally, recurs frequently after resection but does not metastasize. Abdominal desmoid occurs sporadically, in association with some familial syndromes and often represents a clinical dilemma for surgeons. The enigmatic biology and anatomical location of abdominal desmoids make treatment recommendations diff icult. This distinct pathological entity is reviewed with a specif ic focus on aetiology and management.

Pancreatic solid cystic desmoid tumor:Case report and literature review

Desmoid tumors(DTs)are nonmetastatic,locally aggressive neoplasms with a high rate of postoperative recurrence.Pancreatic DTs are especially rare;only a few cases have been reported to date.This paper describes a case of a sporadic cystic DT of the pancreas managed successfully with central pancreatectomy,with no signs of recurrence 40 mo after surgery.According to the literature,this is the first reported case in China of a pancreatic DT presenting as a solid cystic lesion,as well as the first pancreatic DT managed with central pancreatectomy and pancreaticogastrostomy.We report the case for its rarity and emphasize disease management by concerted application of clinical,pathological,radiological and immunohistochemical analyses.

Recurrent aggressive mesenteric desmoid tumor successfully treated with sorafenib: A case report and literature review

BACKGROUND Desmoid tumors(DT) are locally advanced but histologically benign monoclonal neoplasms that can occur from any musculoaponeurotic structure. The aim of this report is to analyze a rare clinical case of an aggressive intra-abdominal DT successfully treated with sorafenib.CASE SUMMARY A 36-year-old man presented with increasing colicky abdominal pain and a selfpalpable mass in his left abdomen. Fourteen years earlier he was diagnosed with a large intra-abdominal tumor, which adhered to the left colonic flexure, part of the major gastric curvature and the spleen. Subsequent exploratory laparotomy revealed a voluminous mass in the epigastrium, arising from the posterior surface of the stomach and invading the superior mesenteric vessels, transverse mesocolon and the small bowel mesentery. As the tumor was unresectable, a jejunojejunal bypass was performed. Traditional therapeutic interventions proved insufficient, and the patient was started on sorafenib with a subsequent fulldisease response.CONCLUSIONDT's pathogenesis has been associated with mutations in the adenomatous polyposis coli(APC) gene or beta-catenin gene CTNNB1, sex steroids or previous surgical trauma. Local treatment modalities, such as surgery or radiotherapy, are implemented in aggressively progressing or symptomatic patients. Sorafenib is a hopeful therapeutic option against DTs, while several pharmacological agents have been successfully used.

Efficacy of vinorelbine combined with low-dose methotrexate for treatment of inoperable desmoid tumor and prognostic factor analysis

Objective： To assess the efficacy of conservative chemotherapy for inoperable desmoid tumor（DT） and analyze the prognostic factors.Methods：From November 2008 to April 2016,71 patients of inoperable DT were treated with vinorelbine and low-dose methotrexate in the Department of Bone and Soft Tissue Tumors,Peking University Cancer Hospital＆Institute,and enrolled in this retrospective study.The chemotherapy duration is one year.The efficacy of chemotherapy and the prognosis were observed.Results：Of the 71 patients,55% were female.Age of onset varied from 1 to 47 years,and the median age was 14years.Only 11（15.5%）cases suffered primary tumor.The distribution of the site of tumors was：31（43.7%）in the trunk,36（50.7%）in the limbs,and 4（5.6%）in the peritoneal and pelvic cavity.The size of tumor（the maximum diameter）differed from 2 to 37 cm with a mean of 9.3 cm.The median follow-up duration was 28（range,6–87）months.Common side effects included：nausea and vomiting,liver injury,bone marrow suppression and oral ulcers.When the chemotherapy finished,1（1.4%）case achieved complete response,24（33.8%）achieved partial response,37（52.1%）achieved stable disease and 9（12.7%）had progressive disease.The overall response rate was 87.3%.The progression-free survival（PFS）of the participants were from 6 to 87 months,and the 2-,3-and 5-year PFS was 79.9%,68.4% and 36.3%,respectively.No significant difference was identified in PFS in subgroups of gender,age of onset,age of chemotherapy,tumor site and tumor size.Conclusions：For recurrent,inoperable and progressive DT,enough course of chemotherapy with vinorelbine combined with low-dose methotrexate was an optional choice for local control.

An unusual case of fatty liver in a patient with desmoid tumor

A desmoid tumor,also known as aggressive fibromatosis,is a rare benign neoplasm that arises from fascial or musculoaponeurotic tissues.It can occur in any anatomical location,most commonly the abdominal wall,shoulder girdle and retroperitoneum.The typical clinical presentation is a painless mass with a slow and progressive invasion of contiguous structures.It is associated with a high local recurrence rate after resection.Many issues regarding the optimal treatment of desmoid tumors remain controversial.Aggressive surgical resection with a wide margin(2-3 cm) remains the gold standard treatment with regard to preserving quality of life.Radiotherapy alone has been shown to be effective for the control of unresectable or recurrent lesions.Desmoid tumors tend to be locally infiltrative,therefore,the fields must be generous to prevent marginal recurrence.The radiation dose appropriate for treating desmoid tumors remains controversial.We present a 25-year-old Caucasian man with local recurrence of a desmoid tumor after repeated surgical resection,treated with radiotherapy.The patient achieved complete tumor regression at 4 mo after radiotherapy,and he is clinically free of disease at 12 mo after the end of treatment,with an acceptable quality of life.The patient developed short bowel syndrome as a complication of second surgical resection.Consequently,radiotherapy might have worsened an already present malabsorption and so led to steatohepatitis.

Intra-abdominal desmoid tumors mimicking gastrointestinal stromal tumors——8 cases: A case report

BACKGROUND Intra-abdominal desmoid tumors(DTs) can mimic recurrence or progression of gastrointestinal stromal tumors(GISTs). Differential diagnosis is important to avoid unnecessary or inappropriate treatment.CASE SUMMARY All 8 patients experienced surgical resection of GIST, and median time to diagnosis of DT was 1.8 years after surgical resection. All sites of DT were in the peritoneum around the surgical sites of GIST. The following clinical suspicion coupled with radiological findings contributed to the suspicion of intraabdominal DTs:(1) Occurrence of a new single lesion in the peritoneum around the surgical sites of GIST;(2) uncontrolled lesion with imatinib while other lesions being controlled with imatinib;(3) well-defined ovoid shaped lesion with delayed or mild enhancement and absence of necrosis, hemorrhage, and cystic change on computed tomography; and(4) a lesion showing mild or no hypermetabolic activity on 18 fluorodeoxyglucose-positron emission tomography,contrary to initially hyperactive lesion of GIST. All DTs were surgically removed except for one unresectable DT and only one DT recurred at another site of peritoneum, which was also surgically removed.CONCLUSION Intra-abdominal DT should be a differential diagnosis for a new single lesion in patients with GIST.

Cholangiocarcinoma accompanied by desmoid-type fibromatosis

BACKGROUND:Cholangiocarcinoma complicated by intraabdominal desmoid-type fibromatosis(DTF)is uncommon. There are no reports on patients with this type of fibromatosis, in which the pre-operative treatment(including diagnosis), surgical approach,post-operative pathologic reports,and prognosis are discussed. METHOD:The clinicopathological features of a 49-year-old man were retrospectively analyzed. RESULTS:Cholangiocarcinoma located in the inferior segment of the bile duct was considered pre-operatively on the basis of clinical findings.At the time of pancreaticoduodenectomy,the mesojejunum was stiff without nodules or a mass at a distance of approximately 80 cm from the ligament of Treitz.Complete excision of the entire lesion of the intestinal mesenteric contracture and its subsidiary was performed.Post-operative pathologic findings confirmed an adenocarcinoma located at the extremity of the common bile duct and infiltrating the full thickness of the common bile duct as well as the deep muscular layer of the duodenum.The contracted jejunal mesentery was shown to have DTF.The patient was alive with no evidence of recurrence after a follow-up of 6 months. CONCLUSIONS:The patient had a rare hereditary disease with intra-abdominal DTF,which manifests the characteristics of an aggressive growth pattern and a high rate of local recurrence; conservative therapy is recommended.Complete excision of the fibromatous lesion during pancreaticoduodenectomy may maximally decrease the risk of local recurrence.

Postoperative retroperitoneal desmoid tumor mimics recurrent gastrointestinal stromal tumor:A case report

Desmoid tumor is a locally invasive,myofibroblastic,nonmetastatic tumor.Its pathogenesis remains unclear and it may involve genetic abnormalities,sex hormones and traumatic injury,including surgery.Postoperative intra-abdominal desmoid tumor is rare,especially in the retroperitoneum.We report a case of postoperative retroperitoneal desmoid tumor that developed 29 mo after the first excision of a gastrointestinal stromal tumor.Sporadic trauma-related intraabdominal desmoid tumors reported in the English literature are also reviewed.Despite an extremely low incidence,postoperative desmoid tumor should be considered in the differential diagnosis when a recurrent neoplasm is found at least one year after operation.However,it is a clinical challenge to distinguish recurrent malignant neoplasms from desmoid tumors,and surgical resection is the treatment option depending on the anatomic location.

Intra-abdominal desmoid tumor after liver transplantation: A case report

We are reporting the first documented case of an abdominal desmoid tumor presenting primarily after liver transplantation. This tumor, well described in the literature as occurring both in conjunction with familial adenomatous polyposis as well as in the postsurgical patient, has never been noted after solid organ transplantation and was therefore not included in our differential upon presentation. Definitive diagnosis required the patient to undergo surgical excision and immunochemical staining of the mass for confirmation. A review of the literature showed no primary tumors after transplantation. In a population of patients who received a small bowel transplant after they developedshort gut post radical resection of aggressive fibromatosis, only rare recurrences were seen. No connection of tumor development with immunosuppression or need to decrease immunosuppressant treatment has been demonstrated in these patients. Our case and the literature show the risk of this tumor presenting in the post-transplantation patient and the need for a high index of suspicion in patients who present with a complex mass after transplantation to prevent progression of the disease beyond a resectable lesion. Results of a thorough search of the literature are detailed and the medical and surgical management of both resectable and unresectable lesions is reviewed.

Mandibular Reconstruction in Cervical Desmoid Tumors

Introduction: Desmoid tumors are benign soft tissue tumors, but their infiltration character is responsible for big morbidity, especially in the cervicofacial location. Their management, therefore, represents a real challenge. Clinical case: Reporting a case of a 4-year-old girl presenting a desmoid tumor at the expense of the mandibular corpus and the right ascending ramus, with loco-regional infiltration, and whose treatment consisted of surgical resection of the tumor with Hemi-mandibulectomy and reconstruction according to the Masquelet technique. Conclusion: The traditional treatment consists of a large local excision with negative surgical margins. Head and neck fibromatosis, while rare, present a complex problem as they are often aggressive, and invade local bone, nerve and muscles, and can leave patients with a cosmetic deformity. In our case, it was a mandibular reconstruction after a large resection of a desmoid tumor with a location on the head and neck. With good consolidation, absence of recurrence, and without aesthetic sequelae at the control.

Desmoid Tumor Causing Hip Joint Contracture: A Case Report

Desmoid tumor (DT) is a relatively uncommon, cytologically bland fibrous neoplasm that is associated with possibility of local recurrence but without the potential to spread to other parts of the body. This disease affects mostly younger adults and is the most common cause of abdominal wall masses in women 20 - 35 years of age. However, it may involve nearly every body part, including the extremities, head and neck, trunk, and abdominal cavity;as such, patients with DT may present to a range of general and subspecialty radiologists. The consensus for treatment has changed over the past decade, with most centers moving away from primary radical surgery towards a front-line “wait-and-see” policy. Here, we present a case of a tumor mass that induced hip joint contracture. DT does not usually cause functional disorder. Oncologists should be aware that a desmoid tumor can cause hip joint contracture if the mass occurs in the gluteal region. Moreover, DT resulting in such a functional disorder should be treated by resection.

Desmoid tumor in a laparotomy scar in a child: Case report and brief literature review

Desmoid tumors are rare neoplasms arising at the site of any fascia. Although histologically benign, they can cause local infiltration and they also carry a risk of recurrence. We describe the case of an 11-year-old girl who presented with a desmoid tumor at the site of an old trauma, and we briefly review the literature of this lesion.

Sporadic Desmoid Tumor of the Small Bowel Mesentery in a Male Patient: A Case Report and Literature Review

Aggressive fibromatosis arising from the small bowel mesentery is extremely rare. It may occur in association with previous trauma, abdominal surgery, drugs, Gardner’s syndrome, or familial adenomatous polyposis. This paper presents a 32-year-old man with no significant medical or surgical history, complaining of diffuse abdominal pain and discomfort. His computed tomography scan revealed a well-defined soft tissue mass in the peritoneal cavity. He underwent surgical excision of the mass with resection and anastomosis of the involved loop of the small intestine. Histological examination confirmed mesenteric fibromatosis without infiltration of the bowel. The patient remained well during the 8 months follow-up.

Clinical and imaging features of desmoid tumors of the extremities

BACKGROUND Desmoid fibroma is a rare soft tissue tumor originating from the aponeurosis,fascia,and muscle,and it is also known as aponeurotic fibroma,invasive fibroma,or ligamentous fibroma.AIM To investigate the clinical and imaging features of desmoid tumors of the extremities.METHODS Thirteen patients with desmoid fibroma of the extremities admitted to our hospital from October 2016 to March 2021 were included.All patients underwent computed tomography(CT),magnetic resonance imaging(MRI),and pathological examination of the lesion.Data on the diameter and distribution of the lesion,the relationship between the lesion morphology and surrounding structures,MRI and CT findings,and pathological features were statistically analyzed.RESULTS The lesion diameter ranged from 1.7 to 8.9 cm,with an average of 5.35±2.39 cm.All lesions were located in the deep muscular space,with the left and right forearm each accounting for 23.08%of cases.Among the 13 patients with desmoid fibroma of the extremities,the lesions were"patchy"in 1 case,irregular in 10,and quasi-round in 2.The boundary between the lesion and surrounding soft tissue was blurred in 10 cases,and the focus infiltrated along the tissue space and invaded the adjacent structures.Furthermore,the edge of the lesion showed"beard-like"infiltration in 2 cases;bone resorption and damage were found in 8,and bending of the bone was present in 2;the boundary of the focus was clear in 1.According to the MRI examination,the lesions were larger than 5 cm(61.54%),round or fusiform in shape(84.62%),had an unclear boundary(76.92%),showed uniform signal(69.23%),inhomogeneous enhancement(84.62%),and"root"or"claw"infiltration(69.23%).Neurovascular tract invasion was present in 30.77%of cases.CT examination showed that the desmoid tumors had slightly a lower density(69.23%),higher enhancement(61.54%),and unclear boundary(84.62%);a CT value<50 Hu was present in 53.85%of lesions,and the enhancement was uneven in 53.85%of cases.Microscopically,fibroblasts and myofibroblasts were arranged in strands and bundles,without obvious atypia but with occasional karyotyping;cells were surrounded by collagen tissue.There were disparities in the proportion of collagen tissue in different regions,with abundant collagen tissue and few tumor cells in some areas,similar to the structure of aponeuroses or ligaments,and tumor cells invading the surrounding tissues.CONCLUSION Desmoid tumors of the extremities have certain imaging features on CT and MRI.The two imaging techniques can be combined to improve the diagnostic accuracy,achieve a comprehensive diagnosis of the disease in the clinical practice,and reduce the risk of missed diagnosis or misdiagnosis.In addition,their use can ensure timely diagnosis and treatment.

Desmoid Tumor Mimicking Port Site Recurrence after Laparoscopic Retroperitoneal Lymph Node Dissection for Metastatic Testicular Tumor: A Case Report

Background: Desmoid tumor is a rare benign soft tissue tumor which commonly affects the trunk and extremities. Case presentation: We report a patient who presented with a tumor that slowly grew at the left lower abdominal port site 1 year after post-chemotherapy laparoscopic retroperitoneal lymph node dissection (RPLND) for metastatic testicular tumor. The enlarging mass mimicking port site recurrence after laparoscopic retroperitoneal lymph node dissection for metastatic testicular tumor was diagnosed as a desmoid tumor. Conclusion: To our knowledge, this is the first report of a desmoid tumor that developed after laparoscopic RPLND for a testicular tumor.

A Case of Shoulder Desmoid-Type Fibromatosis Missed on an Initial Work Up: Case Report and Literature Review

Desmoid-type fibromatosis (DF) is a rare, locally invasive, non-metastasizing soft tissue proliferation derived from mesenchymal progenitor cells. The incidence of DF is 2 to 4 per million per year in the general population and typically affects adults between the ages of 35 - 40. Desmoid-type fibromatosis can either be sporadic or associated with mutation in the adenomatous polyposis coli gene. Trauma, surgery, pregnancy, and oral contraceptives have been identified as risk factors for the development of desmoid-type fibromatosis. MRI is the standard for image characterization, and CT image-guided core needle biopsy for diagnosis. “Wait and see” is the current management recommendation, and studies of y-secretase inhibitors and tyrosine kinase inhibitors have shown promise in the treatment of desmoid-type fibromatosis. This report presents a case of rare right shoulder desmoid type fibromatosis in a 48-year-old male that was missed on an initial workup including EMG/NCS and shoulder MRI, and demonstrates the importance of revisiting the diagnostic process if a former workup has yielded an unclear clinical picture.

Desmoid Tumor of the Breast as a Manifestation of Gardner’s Syndrome in an Elderly Woman: A Case Report and Review of Literature

Desmoid tumor of the breast is an extremely rare entity. Histologically, it corresponds to a benign fibroblastic proliferation of a local evolution, with a high recurrence potential. We report the first case of elderly woman presented with desmoid-tumor of the breast as a manifestation of Gardner’s syndrome. A brief literature review was provided. We report the case of a 72-year-old woman who presented with five months history of painful and an exophytic mass of her left breast. She is known to have familial polyposis and had a total colectomy with Gardner’s syndrome. She had a history of osteomas of the maxilla. On clinical examination, there was an exophytic painless mass, on the upper medial quadrant of the breast. She had also lipoma in the left leg and pigmented skin lesions in legs. Her mammograms showed a suspicious stellar image. A computed tomography scan showed an ovoid lesion. Excision of the lesion was performed. Histopathology confirms a desmoid-tumor of the breast. Evolution was marked by lesion recurrence. In conclusion, desmoid tumor of the breast is rare, non-metastatic but locally aggressive. Clinical expression is often nonspecific. Treatment remains controversial;surgical excision is the treatment of choice.

Abnormality of chromosome 8 in desmoid-type fibromatosis

Desmoid-type fibromatoses are clonal fibroblastic proliferations that arise in deep soft tissues and are characterized by infiltrative growth and a tendency toward local recurrence. The molecular genetic studies show that there are chromosomal abnormalities relating to the pathogenesis of this lesion, such as trisomy 8. However, there are different results concerning this type of abnormality. Fluorescence in situ hybridization （FISH） is a sensitive and reproducible technique that combines molecular cytogenetics with morphologic information and brings them together in a single frame for evaluation. To explore the controversy of the aneuploid abnormality of chromosome 8, we collected specimens of desmoid-type fibromatosis to determine whether the existence of trisomy 8 chromosome abnormalities correlates with clinicopathologic features, as well as to investigate the feasibility of detecting trisomy 8 in FFPE tissue by FISH method.

Aggressive fibromatosis of the sigmoid colon:A case report

BACKGROUND Aggressive fibromatosis(AF),also known as desmoid tumor or desmoid-type fibromatosis,is a rare soft tissue neoplasm that can occur in almost any part of the body.Although it is a benign disease,AF is aggressive and infiltrative and has a high recurrence rate after surgery.Common sites for intra-abdominal AF are the small bowel mesentery,retroperitoneum,and pelvis.AF in the colon is extremely rare.CASE SUMMARY Here,we report the first case of sigmoid colon AF,which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy.Computed tomography confirmed a slightly enhanced mass in the sigmoid colon.Subsequent colonoscopy did not reveal a mass in the colonic lumen,but a suspected external compress was found in the sigmoid colon.Surgical disease involving a gastrointestinal stromal tumor was suspected.The patient underwent laparoscopic exploration,and sigmoidectomy with a negative margin was performed to excise the mass.Postoperative immunohistochemistry revealed that the mass was an AF.The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy.CONCLUSION AF should be considered in the differential diagnosis of subepithelial colon masses.Radical resection alone can achieve good outcomes.