Murphey md, ruble cm, tyszko sm, zbojniewicz am, potter bk, miettinen m. Desmoid tumour dt is a rare monoclonal, fibroblastic proliferation characterised by a variable and often. Desmoid tumors dt, also called aggressive fibromatoses, are a rare. Desmoid tumour dt is a rare monoclonal, fibroblastic proliferation characterised by a. The tumours are of fibroblastic origin and, although benign, are locally aggressive.
Desmoid tumours are locally aggressive and can cause life threatening problems or even death when they invade vital organs. For example, only 5% of sporadic desmoid tumors are intraabdominal, but 80% of patients with familial adenomatous polyposis fapassociated desmoid tumors develop intraabdominal disease. The global incidence of desmoid tumours is 24 new cases per million population per year 1, 2. Unfortunately, the pathology of this lesion wasnt available and other differential diagnoses include lymphoma, sarcoma and metastasis. Pdf desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a. Pdf on may 31, 20, arcot rekha and others published desmoid tumours. These tumours dont spread, or metastasize, to other parts of the body. Desmoid tumours dts are benign locally aggressive mesenchymal neoplasms derived from musculoaponeurotic stromal elements. Also known as aggressive fibromatosis, desmoid tumors typically form as a single, firm but rubbery mass in the connective tissue in the arms, legs or trunk. The cohort of this study was limited to patients with progressive tumours according to the response evaluation criteria in solid tumors, which is the major strength of this study.
Desmoid tumors are usually considered benign not cancer because they rarely spread to different parts of your body. Male patients had a significantly greater number of desmoid tumours and a larger tumour mass, although tumours were more common in female patients. The girl had previously had a lumbar puncture lp for suspected neonatal sepsis. The estimated incidence in the general population is 24 per million people per year. The disease affects younger individuals, with a peak age of 30 years, and is the most common cause of an anterior abdominal wall mass in young women of childbearing age. Its reported incidence ranges from 2 to 4 cases per million people per year. Desmoid disease as a part of familial adenomatous polyposis coli. A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. They are slightly more common in women than men, and occasionally occur in association with pregnancy or trauma. A 22yearold woman, 2 years postcosmetic augmentation mammoplasty with silicone implants, presented with a 6month history of an enlarging mass in her left breast. View the article pdf and any associated supplements and figures for a period of 48 hours. The socalled desmoid tumour is an important member of a group of. Desmoid tumors are benign, noninflammatory fibroblastic tumors see who 2002 classification of soft tissue tumors with a tendency for local invasion and recurrence but without metastasis.
Desmoid tumours are benign tumours that have a tendency to be locally invasive. Although case reports describe desmoid tumours in young children, the majority of cases occur between the ages of 1560 years old, with a peak incidence 2535 years. A 12monthold girl was referred to clinical genetics to consider genetic testing because of a family history of familial adenomatous polyposis fap. Desmoid tumours are benign, myofibroblastic stromal neoplasms common in gardners syndrome, which is a subtype of familial adenomatous polyposis characterized by colonic polyps, osteomas, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. Until now, spontaneous tumor regression has been reported in. The authors report seven cases of desmoid tumors of the extremities. Wide local excision and reconstructive surgery of desmoid tumour of. Although desmoid tumours are nonmalignant and nonmetastasizing, and seldom cause death, they are locally invasive and exhibit a high risk for recurrence 2. Pazopanib is an active treatment in desmoid tumour.
Desmoid tumors are noncancerous growths that occur in the connective tissue. There was a statistically significant correlation between widespread nuclear expression of catenin and overexpression of vegf in all desmoid tumours p 0. Patients survival is usually good as dtaf lack the capacity to metastasize although anatomical disease site is important. But ones that grow fast aggressive tumors can be like cancer in some ways. There has been a welldocumented preponderance in females with a 2. Desmoid tumour of the breast is a rare fibroblastic tumour whose spectrum ranges from being locally inert to aggressive and destructive, and represents 0.
Gastric polyposis and desmoid tumours as a new familial. Some desmoid tumors are slow growing and dont require immediate treatment. These are a type of cell that provide cell support for the bodys tissues. Desmoid tumors may affect all sites, including the extremities, trunk, and abdomen. Their relationship to critical neurovascular structures in their anatomic locations presents a challenge to the operating surgeons trying to adhere to the principles of surgery. We present the radiologic findings, on computed tomography ct andor magnetic resonance image mri of a series of 5 patients with abdominal desmoid tumors histologically proven, 2 of which developed a local recurrence. Desmoid tumours can occur at any age, but are most commonly diagnosed between the ages of 10 and 40 years. Mri revealed a mass at l3l4 figure 1, and genetic testing. To depict and illustrate the spectrum of multimodality imaging findings of abdominal desmoid tumours. A joint global consensusbased guideline approach for adult and paediatric patients. Desmoid tumours in patients with familial adenomatous. However differences in the aggressive nature of these tumors are seen when age and sex distributions are scrutinized. Treatment and followup strategies in desmoid tumours.
The apc distal mutations identified in this study cluster with a phenotype characterised by colon oligopolyposis, diffuse gastric polyposis and desmoid tumours. Unlimited viewing of the articlechapter pdf and any associated supplements and. A desmoid tumour dt, also called aggressive fibromatosis, is a monoclonal fibroblastic. Desmoid tumours, also known as aggressive fibromatoses, are rare neoplasms. Another term for desmoid tumors is aggressive fibromatosis. The terms desmoid tumor and aggressive fibromatosis are occasionally used synonymously by some authors 9. The challenge of extraabdominal desmoid tumour management. However, this inclusion can be particularly challenging in very rare indications, such as desmoid tumours. The term desmoid is itself derived from the greek word desmos meaning band or tendon like. The differential diagnosis of desmoid tumors includes other neoplasms, such as lymphoma, pleomorphic sarcoma, fibrosarcoma, and giant cell tumor of the tendon sheath. Simultaneously, the child was undergoing investigation for an enlarging, nontender lump on her back. A tumour less than a few centimetres in size is best removed by wide local excision.
Desmoid tumours are locally invasive soft tissue tumours in which. Large growths should also be excised, but efforts should be made to preserve the vessels and nerves, since malignant transformation and metastases do not occur. Imaging features although use of radiography, bone scintigraphy, and ultrasound for imaging of desmoid tumors has been described, in practice, the imaging of desmoids relies mainly on ct and mri. Df can occur anywhere in the body but it is mostly found in the arms, legs and abdomen tummy. Desmoid tumors arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. Radiotherapy in desmoid tumors university of helsinki research.
We read with great interest the randomised, openlabel, multicentre, phase 2 study by maud toulmonde and colleagues1 reporting the activity of pazopanib for adult patients with desmoid tumours. Desmoid comes from the greek word desmos, which means tendon or bandlike. Tumors that form in the abdominal wall are called abdominal desmoid tumors. A joint global consensusbased guideline approach for adult and paediatric patients the desmoid tumor working group 1. Different biologic features of desmoid tumors in adult and juvenile patients. We present the radiologic findings, on computed tomography ct andor magnetic resonance image mri of a series of 5 patients with abdominal desmoid tumors. Mvd in recurrent tumours was significantly higher than that in primary tumours. The management of desmoid tumours european journal of cancer. On ultrasound, desmoid tumors appear a to z of desmoid tumors atul b.
Highdose tamoxifen and sulindac as firstline treatment for. Desmoid tumours of the extremities springer for research. Invasion and mmp expression profile in desmoid tumours. There are even instances of spontaneous regression. Desmoidtype fibromatosis df is sometimes called desmoid tumour or aggressive fibromatosis. Desmoid tumours aggressive fibromatosis, deep musculoaponeurotic fibromatosis, and formerly fibrosarcoma grade i of the desmoid type, are locally aggressive tumours which do not metastasize or differentiate.
Treatment for a tumor depends upon its location and characteristics, as well as the patients preferences. Desmoid tumours in male patients were located more often in the abdominal wall. Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. They may be associated with genetic conditions such as gardners syndrome. Desmoid tumoursaggressive fibromatosis dtaf are rare softtissue neoplasms that usually arise from the abdomen although extremities are also a common site of presentation 1, 2. Typically, a single tumor develops, although some people have multiple tumors. Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. These tumors tend to occur in women in their thirties, but can occur in anyone at any age. They are also known as aggressive fibromatosis or desmoidtype fibromatosis. In conclusion, we describe a novel fap clinical variant, which we propose to refer to as gastric polyposis. Large intraabdominal desmoid tumour posing diagnostic and. Desmoid tumors most often occur in the abdomen, arms and legs. Abnormalities of the wntcatenin signalling pathway. On 18 ffdgpetct, the median maximum standardized uptake value of desmoid tumors has been reported to be 4.
The following are the supplementary data to this article. Desmoid tumor of the abdominal wall radiology case. Desmoid tumors are benign fibroelastic tumors with potential local invasion and recurrence after excision. Desmoid tumors tend to grow steadily, regardless of tumor location. Others grow quickly and are treated with surgery, radiation therapy. Desmoid tumours of the brachial plexus are rare and may occur in extraabdominal sites. Systemic treatments for desmoid tumours also known as aggressive fibromatosis include hormonal blockade, cytotoxic chemotherapy and tyrosinekinase inhibitors, although response. The primary treatment is surgery, followed by adjuvant radiotherapy, but the local recurrence rate is high, and wide resection can. Desmoid tumors are rare benign, softtissue tumors that usually affect adults.
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