Desmoid tumors in three patients

Desmoids are rare tumors of the connective tissue. It develops about 1:1000 times more in patients with familial adenomatous polyposis (FAP, Gardner syndrome) compared to normal population. It has been shown in molecular genetic examinations, that different mutations of the APC gene are responsible for desmoid tumors in FAP. It means, that this disease is one of the extraintestinal manifestations of Gardner syndrome. This tumor has high recurrence rate and is growing rapidly, and as a result it is the second most common cause of death in FAP patients. That is why genetic examination for FAP patients is advised to decide if the patient has higher risk for desmoid formation. If the result of the genetic test is positive, it is advisable to try to slow the progression of polyposis with medical treatment, and so to delay the date of the colectomy because the surgical intervention--and connective tissue damage--can induce desmoid formation in these patients. At the same time it is reasonable to examine and regularly control patients with sporadic desmoid tumors searching for other manifestations of Gardner syndrome (colon, stomach and duodenum polyposis, tumor of papilla Vateri, retinopathy, etc.). Palliative surgery is not indicated in patients with inoperable intraabdominal desmoid tumors, because partial resections (R1, R2, debulking) result in further tumor progression. In these patients medical treatment (sulindac, tamoxifen), chemotherapy (doxorubicin, dacarbazin) and radiotherapy or combination of them can result tumor remission. We describe our three patients (an abdominal wall desmoid four years following Cesarean section; a desmoid tumor in the retroperitoneum and in the pelvis diagnosed three years after total colectomy; and a retroperitoneal and abdominal wall desmoid one year after total colectomy) and etiology, diagnosis and therapy of desmoid tumors are discussed.     

腹壁韧带样瘤16例临床分析

目的 探讨腹壁韧带样瘤的临床特点和治疗方法.方法 回顾性分析1998年1月至2010年10月收治的16例腹壁韧带样瘤患者的临床资料,全组患者均经手术治疗.结果 本组16例患者均行广泛切除术,复发2例,复发率12.5%(2/16).结论 腹壁韧带样瘤呈侵袭性生长的特性,治疗应按低度恶性软组织肿瘤处理.治疗首选外科手术.     

A Rare Case of Desmoid Tumor of Thigh

Extraabdominal desmoid tumor is a locally aggressive tumor despite being histologically benign. To avoid local recurrence, it is important to preoperatively detect the exact localization and extension of the infiltrating or disseminating lesion in this tumor. We report a case of recurrent extraabdominal desmoid tumor, which arose in the posterior thigh region. A 68 yrs old male presented with thigh swelling since past 22 years over posterior aspect of thigh increasing in size over the past 2years. The swelling was extending over the medial and anterior aspect of thigh. On investigation he was found to be case of desmoid tumor of thigh.     

Extra-abdominal fibromatosis (desmoid tumor) arising in the infratemporal fossa: a case report

Aggressive fibromatosis (or desmoid tumor) refers to a histologically benign but locally aggressive lesion arising from musculoaponeurotic structures in various anatomic sites. Extra-abdominal desmoids represent about one third of all desmoid tumors; of these only about 11 to 15% arise in the head and neck. Desmoid tumors arising in the infratemporal fossa are exceedingly rare; to our knowledge only one such tumor has been reported in the literature. We present a desmoid tumor arising in the infratemporal fossa with intracranial extension in a twenty-seven year old male and review the literature on this rare condition.     

Desmoid tumor arising around the distal tubing of a cerebrospinal fluid shunt

A case of desmoid tumor in the abdominal wall as a cause of malfunction of a cerebrospinal fluid shunt is presented. The desmoid tumor arose from the reactive fibrose tissue formed around the silastic distal tubing and caused the catheter to become disconnected from the reservoir.     

Extra-Abdominal Fibromatosis (Desmoid Tumor) Arising in the Infratemporal Fossa: A Case Report

Aggressive fibromatosis (or desmoid tumor) refers to a histologically benign but locally aggressive lesion arising from musculoaponeurotic structures in various anatomic sites. Extra-abdominal desmoids represent about one third of all desmoid tumors; of these only about 11 to 15% arise in the head and neck. Desmoid tumors arising in the infratemporal fossa are exceedingly rare; to our knowledge only one such tumor has been reported in the literature. We present a desmoid tumor arising in the infratemporal fossa with intracranial extension in a twenty-seven year old male and review the literature on this rare condition.     

Desmoid tumor of the abdominal wall preoperatively suspected as urachal tumor: a case report]

A case of desmoid tumor of the abdominal wall which was preoperatively suspected as urachal tumor is presented. The patient was a 56-year-old man, who was referred to our clinic for further examination of the mass detected incidentally in the ventral region of the urinary bladder by computed tomography. Ultrasonography showed that the mass had a heterogenous and hypoechogenic content. An urachal tumor was suspected and surgery was performed to remove the tumor. During the operation we found that the tumor was completely separated from the urinary bladder and that it had originated from the left rectus abdominal muscle. The pathological diagnosis was desmoid tumor of the abdominal wall. Since urachal tumor has no characteristic findings on the imaging examinations, it is difficult to differentiate desmoid tumor of the lower abdominal wall from urachal tumor, preoperatively.     

Development of a desmoid tumor at the site of a total hip replacement.

Extra-abdominal desmoid tumors are locally aggressive benign soft tissue tumors arising from the connective tissue of muscle and overlying fascia or aponeuroses. Location around the hip occurs in about 10% of all desmoid tumors. The authors report the development of a desmoid tumor around the hip 45 months after implantation of a total hip prosthesis. Endocrine and physical factors seem to play an important role in the development of the disease. Moreover, an association has been reported between trauma and desmoid tumor. Desmoid tumors developing around silicon implants have also been described. However, no association between hip prostheses and desmoid tumors has been published in the world literature. Although soft tissue tumors induced by metallic implants have been observed clinically, we still seek a coherent explanation for the exact pathogenesis.     

Intra-abdominal desmoid tumor following retroperitoneal lymph node dissection for testicular germ cell tumor

In the testicular cancer post-treatment setting a rapidly growing retroperitoneal mass leads to a differential diagnosis including recurrent germ cell tumor, residual mature teratoma, or sarcomatoid degeneration. We report the case of a 27-year-old man with a large abdominal mass occurring in the setting of a mixed germ cell tumor after radical orchiectomy with primary chemotherapy followed by retroperitoneal lymph node dissection. Surgical excision of this mass followed by pathological review revealed an intra-abdominal desmoid tumor. Fluorescence in situ hybridization (FISH) for isochromosome 12p failed to demonstrate a germ cell tumor origin. This is the fourth such case of an intra-abdominal desmoid tumor after retroperitoneal lymph node dissection for testicular cancer in the urologic literature. This case highlights the need for careful consideration of a desmoid tumor when a rapidly growing spindle cell tumor is encountered in a post-treatment testis cancer patient.     

Desmoid tumor of the chest wall infiltrating into the brachial plexus: report of a resected case

We report a case of a desmoid tumor which developed in the apex of the chest wall. A 18-year-old woman was admitted with left shoulder pain. Chest X-ray showed a mass shadow in the left upper lung field. Chest MRI demonstrated the mass infiltrated into the left brachial plexus. A desmoid tumor was suspected on percutaneous needle biopsy. Resection of the tumor was performed. The mass was 13 x 9 x 5 cm in size and diagnosed pathologically as desmoid tumor. Adjunctive postoperative radiation therapy of 60 Gy was done. Postoperative course was uneventful except motor disturbances of the left fingers. At 15 months postoperatively, there was no evidence of recurrence.     

Intrathoracic localisation of desmoid tumours: a familial case of isolated desmoid tumours and current published data

We present the case of large desmoid tumor of the anterior chest wall with pleural involvement, which persistently progressed despite hormonotherapy, chemotherapy and surgery. After many years of therapeutic failures, given the tumor size and its hemodynamic repercussions, the patient was presumed to be incurable and only supportive measures were given. One year later, the desmoid tumor had completely disappeared. Even though wide surgical excision is an essential element in the treatment of desmoid tumors, spontaneous regression may occur in very advanced disease.     

Extraabdominal desmoid tumor in a surgical scar of a patient with Sprengel's deformity

Patients with an extraabdominal desmoid tumor have multiple minor bone abnormalities. The authors describe a rare case of an extraabdominal desmoid tumor that developed in a scar 2 years after surgery for Sprengel’s deformity of the right shoulder in an 8-year-old girl. The association between the tumor and Sprengel’s deformity has never been reported previously. Antecedent surgical trauma might play a role in the development of this tumor.     

Cytokines associated with the pathophysiology of aggressive fibromatosis.

The rare benign extra-abdominal desmoid tumor is characterized by aggressive invasion of normal tissue. Treatment is complicated by its recurrence, invasiveness, and persistence. The etiology is unknown and the pathophysiology is obscure. Because of exuberant fibroblastic proliferation with collagenous tissue being the primary tissue component, this desmoid tumor has been compared with keloids arising from excessive scar formation in healing wounds. Numerous cytokines are associated with signaling for growth and maintenance of mesenchymal cells. Altered expression of these proteins is associated with many pathologic conditions. It has been proposed that the enhanced expression of platelet-derived growth factor and its receptor characterize desmoid tumors. We tested the hypothesis that the exuberant fibrosis of desmoid tumors may have resulted from the initiation of the cascade of molecular events producing increased expression of cytokines. We used immunohistochemical analysis of cytokines in desmoid tumors compared with keloids and skin to localize the expression of cytokines. The results showed localized increased expression of the cytokines epidermal growth factor, transforming growth factor-beta, tumor necrosis factor-alpha, vascular endothelial growth factor, interleukin-1beta, and interleukin-6 in the endothelial cells of blood vessels in the tumors. Production of tumor necrosis factor-alpha and interleukin-1beta in tumor tissue was increased, but we did not find increased expression of platelet-derived growth factor. We concluded that the increased expression of cytokines associated with angiogenesis usually found in wound healing and invasive tumors may contribute to the pathophysiology of the desmoid tumor.     

Desmoid tumor of the chest wall in an elderly woman

We report a case of desmoid tumor of the chest wall in a 79-year-old woman. The patient was referred to our hospital for management of a chest wall mass. Four months previously, the patient noted a small lump in the right lateral chest wall that had rapidly increased in size. Magnetic resonance imaging of the chest revealed a soft tissue tumor in the right lateral chest wall with unclear margins that extended into the intercostal muscles. Positron emission tomography with ¹⁸F-fluorodeoxyglucose (FDG) showed slight FDG accumulation at the lesion. Because open biopsy suggested a desmoid tumor, full-thickness chest wall resection with reconstruction was performed. The final diagnosis was desmoid tumor of the chest wall. Wide surgical resection during the initial operation is an essential element in the treatment of this tumor.     

Primary desmoid tumor of the posterior mediastinum

We describe a unique case of a de novo desmoid tumor of the posterior mediastinum in a 21-year-old nulligravida. The tumor recurred twice despite its histologically confirmed radical extirpations. Because of the aggressive local behavior of desmoid tumors and their unusual locations, which prevent wide excision margins, we favor the early consideration of adjuvant therapy.     

Surgical management of desmoid tumors of the chest wall: a case report and review of literature]

A 45-year-old man without special predispositions showed a chest wall tumor with tenderness. A needle biopsy revealed a desmoid tumor which had invaded the muscles. A wide resection from the second to fifth rib was carried out and 4 years have passed without recurrence. A resection, at least 3 cm away from the lesion, is necessary for desmoid tumors which seem to have clear margins.     

Wide resection of the upper right hemithorax combined with amputation of the right arm for a recurrent desmoid tumor

A 66-year-old woman had a recurrent desmoid tumor in the right thoracic apex. The tumor infiltrated the brachial plexus and eventually rendered the upper right extremity functionless. The tumor was removed by aggressive wide resection of the right upper hemithorax with simultaneous amputation of the functionless right arm. Reconstruction of the chest wall was accomplished, utilizing the soft tissues of the remnant arm as a pedicled flap to cover the full-thickness defect. Aggressive wide resection of the chest wall with limb amputation is technically challenging but unavoidable in some cases of recurrent desmoid tumor.     

Desmoid tumor in a scar from radical nephrectomy for renal cancer

Desmoid tumor is a fibroblastic proliferation arising in musculoaponeurotic tissues. We report a case of abdominal desmoid tumor discovered 2 years after radical nephrectomy for right renal cell carcinoma. Surgical extirpation was performed and the patient remained well 2 years later with no evidence of disease. The possibility of desmoid tumors developing in the incised abdominal wall should be considered while following patients after surgery.     

Intrathoracic desmoid tumor mimicking primary lung neoplasm

Most reported thoracic desmoid tumors originate from the chest wall. However, intrathoracic desmoid tumors are rare. The pathogenesis of these tumors is unclear but antecedent trauma and operation have been implicated. Desmoid tumors can present either with pain or be incidentally detected on radiographic studies. We describe the case of a 60-year-old woman with an intrathoracic desmoid detected on a routine screening chest roentgenogram who underwent complete surgical resection of the tumor.     

Desmoid tumor of the breast: the role of proton magnetic resonance spectroscopy for a benign breast lesion mimicking a malignancy

Abstract:  Desmoid tumor of the breast is an extremely rare condition. It is difficult to provide a correct preoperative diagnosis of desmoid tumor of the breast because of its tendency to mimic breast carcinoma on physical examination and conventional imaging such as mammography and sonography. We present a case of desmoid tumor of the breast that mimicked breast carcinoma, in which proton magnetic resonance spectroscopy assisted the result of biopsy, thus enabling a correct preoperative diagnosis.