Extra-abdominal desmoid tumors are circumscribed but non-capsulated neoplasms of differentiated fibrous tissue arising
from musculoaponeurotic tissues. They tend to be locally infiltrative, resulting in a high rate of local recurrence without
metastasis, following surgical resection. We report a 9-year-old boy who had a large desmoid tumor in his right buttock that
was successfully excised.
Desmoid Tumor; Aggressive fibromatosis; Musculoaponeurotic fibromatosis; Fibrosarcoma; Recurrence
Desmoid tumor is a rare entity, and most desmoid tumors are located in abdominal wall or extra-abdominal tissues. Occurrence of desmoid tumor in mesentry is extremely rare.
we report a mesenteric desmoid tumor in a 73-years-old woman who had undergone total gastrectomy reconstructed with jejunal pouch interposition for gastric carcinoma. After 1 year, a tumor was originating from mesentery of the interposed jejunal pouch was identified, and the patient underwent resection of the large mass which was found to invade pancreas. Histological examination revealed desmoid tumor.
Desmoid tumor is rare, and it was difficult for the differential diagnosis of desmoid tumor or recurrent tumor.
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 intra-abdominal 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.
Desmoid tumor; Gastrointestinal stromal tumor; Recurrence; Retroperitoneum; Surgery
Extra-abdominal desmoid tumors preferentially affect the shoulders, arms, backs, buttocks, and thighs of young adults. Multicentric occurrence is rather rare but seems to be another distinctive feature of extra-abdominal desmoid tumors. In this article we report a rare case of multicentric extra-abdominal desmoid tumors arising in bilateral lower limbs.
desmoid; bilateral limbs; radiation
This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.
Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. On the molecular level, desmoids are characterized by mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC. Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive for disease recurrence.
Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.
Aggressive fibromatosis; Desmoid tumor; Advanced disease; β-catenin; Individualized treatment
Objective: Desmoid tumors are rare benign neoplasms of fibroblastic origin, frequently presenting in the abdomen of adult patients. Little is reported about clinical features and outcome of desmoid tumors appearing in infants and children, especially when they are located in the face. Methods: We report a girl with a desmoid tumor of her cheek, which was present at birth. Results: The tumor was treated by surgical excision, with no additional treatment, other than follow-up. No recurrence of the tumor was witnessed 15 months following surgical excision. Summary: Radical surgical treatment with tumor excision, sometimes accompanied by radiotherapy, is the current standard therapy for infantile desmoid tumors. Pharmacological treatment may be added in selected cases. These modalities may be challenging when desmoid tumors appear in the face because of risks of facial distortion and associated growth problems.
This case report describes the radical subtotal palliative resection of a massive recurrent desmoid tumor encompassing the abdomen, pelvis, and groin in a child who was 13 years old at the time of initial resection. Given the extensive distribution of the tumor en bloc resection, which is the standard treatment of desmoid tumors, would have meant performing a hemipelvectomy and repair of a large abdominal wall defect, likely with skin grafts and mesh. The patient’s personal goals however were to alleviate the pain and limited mobility that would allow her to re-attend high school and appear normal to her peers. Therefore, palliative surgery was pursued and currently the patient is 5 years out from her last surgery doing well. We believe that the option of surgical palliation in this case was warranted and should be an option for similar cases in the future.
Desmoid tumor; Palliative surgery; Pediatric; Palliation; Radical surgery
Desmoid tumors are rare soft-tissue neoplasms with limited data on their management. We sought to determine the rates of recurrence following surgery for desmoid tumors and identify factors predictive of disease-free survival.
Between January 1983 and December 2011, 211 patients with desmoid tumors were identified from three major surgical centers. Clinicopathologic and treatment characteristics were analyzed to identify predictors of recurrence.
Median age was 36 years; patients were predominantly female (68 %). Desmoid tumors most commonly arose in extremities (32 %), abdominal cavity (23 %) or wall (21 %), and thorax (15 %); median size was 7.5 cm. Most patients had an R0 surgical margin (60 %). The 1- and 5-year recurrence-free survival was 81.3 and 52.8 %, respectively. Factors associated with worse recurrence-free survival were: younger age (for each 5-year increase in age, hazard ratio [HR] = 0.90, 95 % confidence interval [95 % CI] 0.82–0.98) and extra-abdominal tumor location (abdominal wall referent: extra-abdominal site, HR = 3.28, 95 % CI, 1.46–7.36) (both P <0.05).
Recurrence remains a problem following resection of desmoid tumors with as many as 50 % of patients experiencing a recurrence within 5 years. Factors associated with recurrence included age, tumor location, and margin status. While surgical resection remains central to the management of patients with desmoid tumors, the high rate of recurrence highlights the need for more effective adjuvant therapies.
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.
Desmoid tumor; Aggressive fibromatosis; Fatty liver
Desmoid tumor is characterized by infiltrative growth and local recurrence often occurs after surgery. To reduce the local recurrence rate, adjuvant therapy, such as radiotherapy and pharmacotherapy with cytotoxic agents, anti-estrogen agents and non-steroidal anti-inflammatory drugs, is often applied. In addition, these non-surgical treatments are also performed in patients with unresectable desmoid tumors. We successfully treated a patient with a desmoid tumor with tranilast; an anti-allergic agent.
A 48-year-old Japanese man with a slow-growing desmoid tumor on his chest wall was treated with an oral administration of tranilast (300 mg per day, three times a day). Two years and two months after the commencement of his therapy, the tumor became impalpable. At this time, the oral administration of tranilast was discontinued. Two years after discontinuation of the treatment, a physical examination showed no recurrence of the tumor and he continued in a state of remission. We were successfully able to reduce the size of the tumor and thereafter maintain the reduced size.
Tranilast was clinically effective in our case, and is probably comparable to cytotoxic agents or anti-estrogen agents. Because tranilast has substantially fewer adverse effects than cytotoxic agents, it could be a very useful therapeutic agent for desmoid tumor.
Desmoid tumors most often occur in abdominal wall. Their tendency to recur lead to repeated operations which can make the abdominal wall reconstruction difficult. We report a 28-year-old female history. The patient was referred to our hospital for a recurrent desmoid tumor of the abdominal wall. The tumor was totally removed. The reconstruction was successful and the patient recovery was uneventful. Radical surgery still the mainstay of the desmoid tumors treatement. In abdominal wall location, the reconstruction can be a real challenge. Many procedures are discussed in literature. We used a double layer mesh covered by a fascial bepedicled flap. Taking into account their unpredictable behaviour and treatment complications, recurrent abdominal desmoid tumors can be managed simply and efficiently.
Desmoid tumor; recurrent tumor; abdominal wall; reconstruction
Desmoid tumor is a rare type of cancer that develops in the tissues that form tendons and ligaments. These tumors, also called aggressive fibromatosis, are considered benign with no metastatic potential. They may invade nearby tissues and organs, however, and can be difficult to control. Desmoid tumor in the posterior cruciate ligament (PCL) of the knee has never been described in the literature.
A 49-year-old man presented with a 2-month history of posteromedial knee dull pain and decreased range of motion of the knee. He was diagnosed desmoid tumor of posterior cruciate ligament of the knee by intraoperative biopsy, and underwent successful PCL resection and reconstruction by Four-strand semitendinosus and gracilis tendon autograft arthroscopically, and fortunately five years after operation, there were no clues as to recurrence of the tumor examined by Magnetic Resonance Imaging (MRI).
Desmoid tumor is characterized by infiltrative growth and a tendency towards recurrence,as this tumor entity is rare, data giving evidence based recommendations for the optimal treatment algorithm for this disease is lacking. At present there is no definite and effective method of treatment. However, early detection of the tumor play an important role, MRI is now the most important method for the detection of tumor extent, which facilitates the treatment choice as well as the prediction of prognosis. In our case, we followed-up the patient five years postoperatively by MRI and got a good result.
Desmoid tumor; Posterior cruciate ligament; Knee; Arthroscopical reconstruction; Surgery
We report here a review of the current medical literature on pregnancy associated desmoids, including 10 cases of our own. The pertinent findings are that a large percentage of desmoids in females arise in and around pregnancy. Most occur in the abdominal muscles, particularly the right rectus abdominus, perhaps related to trauma from abdominal stretching and fetal movement. While these tumors may regress spontaneously after delivery most can be surgically resected with low recurrence rates even with R1 resections and this is clearly the treatment of choice. Subsequent pregnancies do not appear to result in recurrence in either FAP or non FAP patients. It is not clear from currently available data whether pregnancy associated desmoids are molecularly distinct from other desmoids.
desmoid; pregnancy; post-partum; female
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 desmoid; Thigh swelling; Surgical excision
Primary intra-thoracic desmoids are exceedingly rare borderline tumors, with 34 reported cases in the English-language literature. The characteristic localized infiltrative growth and the high rate of recurrence can result in life-threatening conditions. Radical surgical resection is considered to be the primary treatment. Achieving negative surgical margins is a challenge. Cases with positive surgical margins are associated with a high rate of local recurrence; therefore, other multimodal approaches play a large role in their therapy.
The authors reviewed the relevant literature and presented examples of long-term follow-up of 3 intra-thoracic desmoid tumour patients, multidisciplinarily treated between 2000 and 2008. All reports of intra-thoracic desmoid tumors that the authors could find on PubMed or in the reference sections of these PubMed located articles were included using the search terms: intra-thoracic, desmoid, aggressive fibromatoses.
Because of the rarity of the disease and the heterogeneity of the cases, it is difficult to assess the importance of the information for everyday clinical practice. It does however provide a useful guide for reference.
desmoid tumour; intra-thoracic; aggressive-fibromatoses; b chest
Desmoid tumors are rare nonencapsulated benign lesions that invade the musculoaponeurotic tissues of the body. Such tumors infiltrate insidiously, and attempts to remove them frequently fail, usually leaving residual tumor. The use of adjuvant radiotherapy to decrease the recurrence rate in partially resected extra-abdominal desmoids has been reported by several authors. The role of irradiation in the management of desmoid tumors is illustrated in a case that combined surgery, intraoperative radiotherapy, and postoperative external beam radiotherapy in the management of this lesion.
Desmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7%) and 20q (5%) were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%), a 2 Mb region at 6p21.2-p21.1 (15%), and a relatively large region at 6q15-q23.3 (20%). The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59%) than the sporadic tumours (37%). As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression.
Desmoid tumors (deep fibromatoses) are clonal connective tissue malignancies that do not metastasize, but have a significant risk of local recurrence, and are associated with morbidity and occasionally mortality. Responses of desmoid patients to sorafenib on an expanded access program led us to review our experience.
After IRB approval, we reviewed data for 26 patients with desmoid tumors treated with sorafenib. Sorafenib was administered at 400 mg oral daily and adjusted for toxicity.
Sorafenib was first line therapy in 11/26 patients and the remaining 15/26 had received a median of 2 prior lines of therapy. Twenty-three of 26 patients had demonstrated evidence of progressive disease by imaging, while 3 patients had achieved maximum benefit or toxicity with chemotherapy. Sixteen of 22 (~70%) patients reported significant improvement of symptoms. At a median of 6 months (2–29) of treatment, the best RECIST 1.1 response included 6/24 (25%) patients with partial response (PR), 17/24 (70%) with stable disease and 1 with progression and death. Twelve of 13 (92%) patients evaluated by MRI had >30% decrease in T2 signal intensity, an indirect metric for increased fibrosis and loss of cellularity. Eighty percent of patients with radiological benefit had extra-abdominal desmoids.
Sorafenib is active against desmoid tumors. A prospective, randomized clinical trial of sorafenib against other active agents is warranted. Loss of MRI T2 signal may be a useful surrogate for defining responses, but requires validation by examination of tumor pathology.
Desmoid-type fibromatosis (DF) is a rare intermediately and locally aggressive tumor that occurs predominantly between puberty and 40 years, with female having higher incidence than male. This report describes a 48-year-old man with biopsy-proven DF in left intermuscular spatium of buttock and thigh. The mass had a wide longitudinal distribution from femoral neck level to popliteal fossa and measured about 40 cm. Plain CT showed a partially ill-defined mass with an irregular contour, with a density similar or slightly higher than skeletal muscle. On MR images, the tumor showed uneven signal in both T1WI and T2WI, mainly hyperintense to skeletal muscle and with stripe or patch-like markedly low signal. After contrast injection, the mass showed heterogeneous enhancement.
Desmoid-type fibromatosis; buttock; computer tomography; magnetic resonance imaging
Desmoid tumor of the chest wall are uncommon fibromatous tumors characterized by their local invasion and frequent recurrences. Extra-abdominal sites are mainly the shoulder girdle, the pelvic girdle and distal ends of the lower limbs. The chest wall represents 8–10% of cases and the tumor is exceptionally intrathoracic. We present here a rare case of a large desmoid tumor of left antero-lateral chest wall. In the presented case, wide excision of the tumor and chest wall reconstruction was done. There was no recurrence in 3 years of follow up.
Extra abdominal tumor; Chest wall; Surgery
Fibromatosis or desmoid tumor covers a broad spectrum of benign fibrous tissue proliferations. It is characterized by infiltrative growth and a tendency towards recurrence; however, unlike sarcoma, it never metastasizes.
We report on a case of extraabdominal fibromatosis originating from the retroperitoneal space in a 43-year-old woman. Seven years earlier she had undergone ureterolysis and ureteroureterostomy for ureteral obstruction. Computed tomography revealed a tumor between the iliocostalis and the psoas muscle. Histopathological evaluation revealed uniform proliferation of spindle cells, with a moderate amount of collagen fibers, suggesting extraabdominal fibromatosis (desmoid tumor). The tumor was surgically resected, and since then, the patient has remained asymptomatic without any restrictions of daily living activities and without any signs of tumor recurrence during the two-year follow-up.
Complete resection is the treatment of choice. Adjuvant therapy using non steroidal anti-inflammatory agents, tamoxifen, interferon, anti-neoplastic agents, and radiotherapy, either alone or in combination finds application for unresectable or recurrent cases.
Desmoid tumors are benign mesenchymal tumors with a strong tendency for local recurrence after surgery. Radiotherapy improves local control following incomplete resection, but nearby organs at risk may limit the dose to the target volume. The patient in this report presented with a recurrent desmoid tumor of the right flank and underwent surgery with microscopically positive margins. Particular problems presented in this case included that the tumor bed was situated in close proximity to the liver and the right kidney and that the right kidney was responsible for 65% of the patient’s renal function. Intensity-modulated radiation therapy plans delivering 54 Gy necessarily exposed the right kidney to a V18 of 98% and the liver to a V30 of 55%. Proton therapy plans significantly reduced the right kidney V18 to 32% and the liver V30 to 28%. In light of this, the proton plan was utilized for treatment of this patient. Proton therapy was tolerated without gastrointestinal discomfort or other complaints. Twenty-four months after initiation of proton therapy, the patient is without clinical or radiographic evidence of disease recurrence. In this setting, the improved dose distribution associated with proton therapy allowed for curative treatment of a patient who arguably could not have been safely treated with intensity-modulated radiation therapy or other methods of conventional radiotherapy.
Proton therapy; Intensity-modulated radiotherapy; Benign tumors; Case report
Background: To define the efficacy of postoperative irradiation in patients with recurrent extra-abdominal desmoid tumors in
whom surgical intervention has resulted in microscopically or grossly positive surgical margins.
Methods: A retrospective analysis was performed on all patients referred to the department of radiation oncology at the
Detroit Medical Center with a diagnosis of recurrent extra-abdominal desmoid tumor. This analysis includes all patients
seen from 1 January 1990 through 31 December 1999. A total of 11 patients were treated to 13 sites. Ten had
microscopically positive margins and three had gross residual disease. Three patients were noted to have multifocal disease at
the time of initial representation. Local control, survival, follow-up, and subsequent development of new tumors are
measured from the last day of treatment with irradiation.
Results: Thirteen sites were treated. Seven patients had received chemotherapy/hormonal therapy prior to surgery and/or
irradiation. The most commonly used drug was tamoxifen (n=6). The type of radiation delivered included external beam
irradiation alone (n=3), combined external beam irradiation and brachytherapy (n=4), brachytherapy alone (n=3) and
252-Cf neutron brachytherapy alone (n=3). Follow-up has ranged from 29 to 115 months (median=76 months). Three
patients have failed locally at 17, 24 and 29 months. One of these was treated for gross residual disease. No patient has died
of tumor-related causes. Salvage at the failed sites was possible in twom of three with re-irradiation using external neutrons
and/or aggressive surgical intervention and systemic therapy. Complications were most often noted to include decrease range
in motion, especially in joint areas, and skin reactions which were normal in presentation. In one site there was development
soft tissue necrosis.
Conclusion: Based on our experience we recommend postoperative irradiation for all recurrent extra-abdominal desmoid
lesions with microscopically or grossly positive surgical margins. Furthermore, patients with recurrent desmoid tumors
involving the bony structures of the hand or feet are poor candidates for brachytherapy alone. For patients with extremity
lesions, brachytherapy may be a reasonable treatment option provided adequate margins around the tumor bed are covered.
The continued recommended use of irradiation in this group of patients is warranted.
Desmoid tumors are a rare group of locally aggressive, non malignant tumors of fibroblastic origin that can lead to significant morbidity due to local invasion. Despite advances in the understanding of these tumors, their natural history is incompletely understood and the optimal treatment is still a matter of debate. Local control is the main goal of treatment and there has been a change in philosophy regarding the management of these tumors from aggressive surgical resection to function preservation. A multidisciplinary approach is essential to plan local control with acceptable morbidity. The current Mayo Clinic algorithm for the treatment of these tumors is based on institutional experience and the available evidence in the literature: asymptomatic/non progressive lesions away from vital structures are managed with observation and regular imaging; primary or recurrent desmoid tumors which are symptomatic or progressive or near vital structures are managed with wide surgical resection when wide surgical margins are possible with minimal functional and cosmetic loss. When positive or close surgical margins are likely, surgical resection with adjuvant radiotherapy or definitive radiotherapy is preferred. If likely functional or cosmetic deficit is unacceptable, radiotherapy is the treatment of choice. Unresectable lesions are considered for radiotherapy, chemotherapy or newer modalities however an unresectable lesion associated with a painful, functionless, infected extremity is managed with an amputation.
desmoids; fibromatosis; familial adenomatous polyposis; deep fibromatosis; aggressive fibromatosis
Fibromatosis, or extra-abdominal desmoid tumor, is a benign disease which often has an aggressive clinical course that can be difficult to treat. We performed a retrospective review of 16 patients (12 females and four males) with a mean age of 34.2 years treated with methotrexate and vinblastine for newly diagnosed or recurrent extra-abdominal desmoid tumor. The mean age of our patient cohort was 34.2 years (range 11–70), and the mean tumor size was 11.5 cm (range 2.5–21.2 cm). The mean duration of therapy was 12 months with an average follow-up of 43 months (range 1–149 months). Fourteen of 16 patients demonstrated a clinical response to treatment. Eight of 14 patients demonstrated a radiologic decrease in tumor size. Only one patient progressed on therapy. Six patients developed recurrent symptoms after discontinuation of treatment. Chemotherapy-related symptoms including neutropenia, nausea, and vomiting were common and observed in most patients, however these side effects were mild and transient. Five patients developed peripheral neuropathy that prompted a change from vinblastine to vinorelbine during treatment. One potentially life-threatening complication (pneumocystis pneumonia) occurred which was diagnosed early and successfully treated. The use of methotrexate and vinblastine/vinorelbine in the management of fibromatosis appears to be an effective treatment with minimal treatment-related side effects.
fibromatosis; desmoid tumors; chemotherapy; methotrexate; vinblastine; vinorelbine