Extra-abdominal Desmoid Tumors Research Articles

Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis

Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade. Accordingly, medical and surgical management of desmoid tumors has also evolved. This paper analyzes recent evidence pertaining to the epidemiology, molecular biology, histopathology, screening, and treatment of extra-abdominal desmoid tumors associated with familial adenomatous polyposis syndrome.

Multicentric synchronous recurrent aggressive fibromatosis

Extra-abdominal desmoid tumors are known as aggressive fibromatosis (AFM). Synchronous and metachronous multicentric aggressive fibromatosis are rare lesions and pose dilemma in diagnosis and management. A rare and interesting case of recurrent multicentric, synchronous AFM is presented which to the best of our knowledge has not been reported earlier. A young male presented with well defined, hard, fixed swelling on the thigh. Resected tumor mass on histopathology was diagnosed as an extra abdominal fibromatosis. He presented again after two months with swelling at the same site; and two more swellings on the foot. Fine needle aspiration cytology (FNAC) from all three sites was performed; and was suggestive of benign spindle cell lesion of fibrogenic origin with the possibility of multicentric synchronous recurrent aggressive fibromatosis.

Extra-abdominal Desmoid Fibromatosis in the Foot

Extra-abdominal desmoid tumors account for 0.03% of all neoplasms and rarely present in the foot. They are benign but locally aggressive, and wide local surgical excision is the treatment of choice owing to the high rate of recurrence in the lower extremities. Invasiveness into the surrounding soft-tissue structures often makes wide excision difficult without compromise of function. We describe a 34-year-old woman with a large, pedal, extra-abdominal desmoid fibroma treated by wide local surgical excision with minimal complications postoperatively and no clinical evidence of recurrence at 28 months.

Multicentric extra-abdominal desmoid tumors arising in bilateral lower limbs

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.

Clinical results of radiation therapy for extra-abdominal desmoid tumors

Clinical results of radiation therapy for extra-abdominal desmoid tumors

Successful Treatment With Meloxicam, a Cyclooxygenase-2 Inhibitor, of Patients With Extra-Abdominal Desmoid Tumors: A Pilot Study

Successful Treatment With Meloxicam, a Cyclooxygenase-2 Inhibitor, of Patients With Extra-Abdominal Desmoid Tumors: A Pilot Study

Extra‐abdominal desmoid tumors: A report of 234 cases

To report on the clinical presentation and outcome for 234 patients with extra-abdominal desmoids tumors. Since 1977, the authors have treated 234 patients with extra-abdominal desmoid tumors. The patients had an average age of 36.7 and 61% were female. The tumors arose adjacent to muscles or bones and the largest number were in the foot, shoulder thigh and calf. All of the patients were treated by primary surgery. Thirty-seven had additional radiation and eight had chemotherapy. Local recurrence occurred in 39 patients and 23% of the patients required additional surgery. Of great concern were 24 patients who developed multiple sites metachronously, which required further surgery and in many cases caused disability. None of the patients died of disease but 5 required amputations. The authors concluded that despite the benign nature of the disease, these patients are difficult to treat and the results are sometimes considerably less than optimal.

Early experience with percutaneous cryoablation of extra-abdominal desmoid tumors

Surgical resection, radiation therapy and chemotherapy are all accepted as standard treatments for extra-abdominal desmoid (EAD) tumors, but their effectiveness has been limited by frequent local recurrence. The purpose of this article is to describe our early experiences with using percutaneous cryoablation for local control of extra-abdominal desmoid tumors in five patients whose tumors had failed to respond to standard therapy. In a retrospective search of our institution's radiology database for patients who had undergone percutaneous cryoablation for treatment of EAD tumors between June 2004 and July 2007, we identified five patients (three female and two male). No patients were excluded from this review. Three of these patients had been referred for cryoablation for local tumor control, and two had been referred for palliation of inoperable tumors. The age range of the patients at the time of cryoablation was 9-41 years. The treated EAD tumors were located in the neck, shoulders and trunk and ranged in size from 3.0 cm to 10.0 cm. Medical records were reviewed for short-term and long-term follow-up, and patients were contacted for additional follow-up. Patients were asked to rate their pain as absent, mild, moderate or severe, and to compare it with their levels before cryoablation, describing it as improved, unchanged or worsened. Radiology records were reviewed to follow the size of the EAD tumors before and after cryotherapy. For the three patients referred for local control of EAD tumors, complete tumor coverage with the ablation zones was achieved. Two of these patients, with masses 3.0 cm and 4.9 cm in diameter, reported complete absence of pain at both short-term and long-term follow-up at 13 months and 49 months. Their tumors had completely resolved on long-term imaging follow-up at 19 months and 43 months. The third patient, with a 6.1 cm mass, reported improved mild pain at 6 months, and imaging showed a moderate decrease of tumor size. For the two patients referred for palliative therapy, initial partial pain relief was felt 2 weeks after the procedure, At long-term (58 months) follow-up of one patient with a 9.1 cm mass, the tumor was still present although reduced in size, and local pain had returned to its former moderate level. In the other patient who underwent only partial treatment of a 10.0 cm mass, at long-term follow-up (36 months) the mass had enlarged and pain had returned to the pretreatment, moderate level. Cryoablation appears to be an effective alternative treatment for the achievement of local control of small and moderately sized EAD tumors, but it is likely of limited use in patients with larger tumors that have untreatable regions due to involvement of vital structures. Continued research evaluating cryoablation for the treatment of EAD tumors is needed.

Clinical and imaging observations of desmoid tumors left without treatment

Background Until now, surgical treatment has been the mainstay in the treatment of desmoid tumors, even though it is associated with a high recurrence rate. There have, however, been occasional case reports showing that desmoid tumors may spontaneously decrease in size or even disappear.Patients and methods This is a retrospective review of 8 patients with abdominal (5) or extra-abdominal (3) desmoid tumors who were followed both clinically and with imaging techniques (sonography, CT or MRI). Mean follow-up time was 4.4 (0.8–7.5) years. Tumor volume was assessed in each investigation and followed over time.Results 3 tumors disappeared, 2 diminished in size, 1 did not change and 2 tumors became larger, 1 of which had trippled in volume at the latest follow-up.Interpretation Desmoid tumors have probably been overtreated in the past. Many of them tend to regress spontaneously.

Recurrence Potential of Diffuse-Type Giant Cell Tumor in the Foot: Radiologic and Pathologic Features

Aggressive musculoskeletal tumors in the foot, such as diffuse-type giant cell tumors or extra-abdominal desmoid tumors, are difficult to treat because the foot does not have enough soft tissue to allow wide tumor resection. We reviewed the clinical behavior of diffuse-type giant cell tumor in the foot and evaluated the recurrence potential of these tumors from radiologic and pathologic perspectives. Six patients with a mean age of 37.6 years were included in this study. Radiologic studies, including sonography, computed tomography (CT), magnetic resonance imaging (MRI), and bone and gallium citrate scintigraphy, were obtained followed by surgical treatment and histologic evaluation of the tumor. Recurrence occurred in three patients. Although CT and MRI findings were similar in the recurrent and nonrecurrent tumors, marked differences were found between the two by scintigraphy; positive radiotracer uptake to the affected foot with gallium citrate scintigraphy was noted only in recurrent tumors, although positive accumulation was seen in all patients with bone scintigraphy. Histologically, the necrotic area and mitotic activity were more apparent in recurrent than in the nonrecurrent tumors, and tumor cell dyscohesion was noted in the former, (the intercellular space was increased). Repeated recurrence with tumor invasion into tarsal bone resulted in breakage of the tarsal arch that supports the body's weight. Amputation would be necessary for patients in whom the disease had progressed to obtain local cure and relief of pain. In the present study, we found two features of the recurrence potential of diffuse-type giant cell tumors: sparse cell to cell contact on pathologic examination and positive accumulation in the tumor on gallium citrate scintigraphy. We concluded that giant cell tumors with these two features have a strong potential for local recurrence, and thus require intensive followup.

Activity of imatinib mesylate in desmoid tumors: Interim analysis of a Sarcoma Alliance for Research thru Collaboration (SARC) phase II trial

9013 Background: Desmoid tumors (aggressive fibromatosis) are rare clonal neoplastic proliferations of connective tissues. Although classified as benign, local aggressiveness can lead to significant impairment. Standard treatment involves wide surgical resection and/or radiation therapy. In cases of unresectable or recurrent disease, tamoxifen, chemotherapy, and NSAIDs have been used with varying success. We and others have previously reported desmoid tumors expressing c-kit, PDGFRα, and/or PDGFR. We reported two patients with extraabdominal desmoid tumors treated with the selective tyrosine kinase inhibitor imatinib (Gleevec) with significant shrinkage. SARC, in association with the Connective Tissue Oncology Society, initiated a prospective phase II trial in patients with desmoid tumors, or one of nine sarcoma subtypes. Here, we report specifically on patients with desmoid tumors. Methods: Patients ≥ 10 years old with desmoid tumors that were not curable by surgical management or in whom curative surgery would lead to undesirable functional impairment were eligible. Imatinib was prescribed at 300 mg BID (BSA≥1.5m2), 200 mg BID (BSA=1.0–1.49m2), or 100 mg BID (BSA<1.0m2). Response outcomes at two and four months were collected. Rules for early termination within each disease type were based on a hierarchical Bayesian probability model accounting for correlation of the responses of the 10 disease types. Tissue specimens were analyzed by immunohistochemistry for expression of c-kit, PDGFRα, PDGFRß, AKT, PTEN, FKHR, and beta catenin. Tumor DNA was analyzed for PDGFRα exon 18 and APC mutations by allelic discrimination PCR. Results:26 patients with desmoid tumors have been enrolled with 22 currently evaluable. Two and four month progression-free survival rates of patients are 91% (20/22) and 78% (14/18), respectively. We have found polymorphisms/mutations of PDGFRα exon 18.Conclusions: Imatinib appears to be a promising agent in the management of unresectable or difficult to resect desmoid tumors. We postulate that responsiveness is a function of alteration of that gene or other downstream effectors. Author Disclosure Employment or Leadership Consultant or Advisory Stock Ownership Honoraria Research Funding Expert Testimony Other Remuneration Novartis

Activity of imatinib mesylate in desmoid tumors: Interim analysis of a Sarcoma Alliance for Research thru Collaboration (SARC) phase II trial

9013 Background: Desmoid tumors (aggressive fibromatosis) are rare clonal neoplastic proliferations of connective tissues. Although classified as benign, local aggressiveness can lead to significant impairment. Standard treatment involves wide surgical resection and/or radiation therapy. In cases of unresectable or recurrent disease, tamoxifen, chemotherapy, and NSAIDs have been used with varying success. We and others have previously reported desmoid tumors expressing c-kit, PDGFRα, and/or PDGFR. We reported two patients with extraabdominal desmoid tumors treated with the selective tyrosine kinase inhibitor imatinib (Gleevec) with significant shrinkage. SARC, in association with the Connective Tissue Oncology Society, initiated a prospective phase II trial in patients with desmoid tumors, or one of nine sarcoma subtypes. Here, we report specifically on patients with desmoid tumors. Methods: Patients ≥ 10 years old with desmoid tumors that were not curable by surgical management or in whom curative surger...

The Role of Postoperative Irradiation in the Treatment of Locally Recurrent Incompletely Resected Extra-Abdominal Desmoid Tumors

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.

The Role of Postoperative Irradiation in the Treatment of Locally Recurrent Incompletely Resected Extra-Abdominal Desmoid Tumors

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 tumor of the chest wall

Desmoid tumors are low-grade fibrosarcomas that do not metastasize but are frequently associated with one or more recurrences and subsequent associated morbidity. Desmoid tumors of the chest wall are rare and have been described mainly in single case reports or as isolate cases in large series of extra-abdominal desmoid tumors. We report a case of desmoid tumor in the chest wall mimicking superior sulcus tumor.

Quality of surgery and outcome in extra-abdominal aggressive fibromatosis: a series of patients surgically treated at a single institution.

To explore prognostic factors in surgically treated aggressive fibromatosis (extra-abdominal desmoid tumor). A total of 203 consecutive patients treated with surgery over a 35-year period at a single referral center were retrospectively reviewed. One hundred twenty-eight were first seen at our institution with primary disease, whereas 75 had a recurrent tumor. All patients underwent macroscopically complete resection. Margins were rated as negative in 146 (97 with primary tumors, 49 with recurrences) and positive in 57 (31 in primary, 26 in recurrences) patients. Median follow-up was 135 months. Patients with primary disease had a better disease-free survival rate than those with recurrence (76% v 59% at 10 years). Presenting with a recurrence was also the strongest predictor of local failure in the multivariate analysis. In patients first treated for primary disease, size and site had prognostic significance, whereas microscopically positive surgical margins did not. In contrast, in patients with recurrence, there was a trend toward better prognosis if margins were negative (although this was not significant at multivariate analysis). Presence of microscopic disease does not necessarily affect long-term disease-free survival in patients with primary presentation of extra-abdominal desmoid tumors. Thus, function-sparing surgery may be a reasonable choice when feasible without leaving macroscopic residual disease. In patients with recurrences, positive margins may more clearly affect prognosis, potentially necessitating adjuvant radiation in selected cases.

Desmoid disease in patients with familial adenomatous polyposis

The aim of this retrospective study was to review the clinical features, and surgical and medical management of patients with familial adenomatous polyposis-associated desmoid tumors. From 1980 to 1997, 97 of 780 patients with familial adenomatous polyposis developed desmoid disease. Clinical and demographic data; operative notes; and histologic, radiologic, and follow-up reports were retrieved from patients' medical records. Risk factors for desmoid disease, such as prior surgery, age at desmoid tumor diagnosis, pregnancy, and family history were sought. The outcome after noncytotoxic and cytotoxic therapy was evaluated with respect to improvement of symptoms. There were 38 males with a mean age of 32.1 years and 59 females with a mean age of 29.1 years. A family history of desmoid tumors was found in 41 patients (42 percent), and a history of pregnancy was documented in 33 females (56 percent). The most common clinical presentation was small-bowel obstruction (58 percent). One-half of the desmoids were located in the mesentery, and 32 percent were located in the mesentery and the abdominal wall. Desmoids developed after colectomy in 77 cases (80 percent), after a mean time of 4.6 years. Partial resection of desmoid tumor was performed in 46 patients (47 percent), resection of extra-abdominal desmoid tumors was performed in 17 cases (17 percent), and biopsy only was performed in 34 patients (35 percent). Postoperative morbidity was 23 percent after desmoid tumor resection. Eight patients (8 percent) died of their intra-abdominal desmoid. Mean follow-up time was 5.3 years. Sulindac, tamoxifen, or toremifene therapy was able to alleviate symptoms in only 4 of 31 patients. Symptomatic improvement was noted after chemotherapy in six of ten patients with extremely complex desmoids. Desmoid disease was found in 12.4 percent of our patients with familial adenomatous polyposis. In view of the high rate of morbidity, indication for surgery should be limited mainly to acute or chronic small-bowel obstruction, because resection triggers a high recurrence rate. Noncytotoxic therapy was not effective for progressive desmoid tumors, whereas chemotherapy was effective in aggressive cases of intra-abdominal desmoid tumors.

Treatment of extra-abdominal desmoid tumors with interferon-alpha with or without tretinoin.

Surgery is the main treatment for extra-abdominal desmoid tumors, but the results of further management remain uncertain. Therefore, a retrospective analysis was undertaken to evaluate the toxicity and efficacy of treatment with interferon-alpha (IFN-alpha) +/- tretinoin in this setting. Thirteen patients with extra-abdominal desmoid tumors and a median age of 32 years (range, 15-73) received IFN-alpha. Seven of these patients received a combination of IFN-alpha and tretinoin in order to test further enhancement. After a mean observation period of 27 +/- 15 months (mean +/- standard deviation) under treatment with IFN-alpha +/- tretinoin, local control was seen in 11 of 13 patients (85%). Seven patients had no evidence of disease at a mean disease-free interval of 22 +/- 18 months; in two patients progressive disease occurred after only 7 and 9 months, respectively, of observation. In another four patients, progression of the desmoid tumor was stabilized. The data of this retrospective, nonrandomized study on therapy with IFN-alpha +/- tretinoin suggest that such treatment may be effective in prolonging the disease-free interval of patients after intralesional or marginal surgery. Because of the encouraging response rate, this regimen appears to be another nonsurgical treatment alternative.

耳下部に発生した乳幼児のデスモイド腫よう例

A case of infant extra-abdominal desmoid tumor occurring in the left parotid portion, which has been followed up for 9 years after surgical removal, is reported.A one year and 5 month-old girl visited our clinic on November, 1989, presenting a painless mass in the left parotid portion. Physical examinations showed that the mass was 4×3cm in size, elastic hard in palpation with no facial paresis.Imaging examinations including a CT scan and MRL showed that the mass was located in the parotid portion and extended into the deep Portion of parotid.To confirm the histopathological diagnosis, an open biopsy was performed to locate the desmoid tumor. Then a parotidectomy was performed for surgical removal of the tumor. The tumuor was located in the superior lobe of parotid and could be removed from the facial nerve. The patient has been followed up in our clinic and no reccurence has been observed to date.The desmoid tumor was first described by Macfarlene in 1882, as an abdominal wall tumor. Since that time, reports of this type of tumor arising from places other than the abdominal wall, have been made; these tumors have been called extra-abdominal desmoid tumors. These extra-abdominal desmoid tumors are rarely reported in the face and head region; tumors in the parotid portion of the face are extremely rare.We discussed briefly histopathological findings, age incidence, anatomical location, diagnosis and recurrence of this type of tumor.

MRI and scintigraphic features of extraabdominal desmoid tumors

To determine whether extraabdominal desmoid can be correctly diagnosed using both magnetic resonance imaging (MRI) and scintigraphy with pentavalent technetium-99m dimercaptosuccinic acid and gallium-67 citrate, MRI (T1- and T2-weighted images) and scintigraphy were performed in 18 patients with 27 histologically proved extraabdominal desmoid tumors. The extraabdominal desmoid tumors were characterized by positive uptake of pentavalent technetium-99m dimercaptosuccinic acid and lack of uptake of gallium-67 citrate on scintigraphy. These tumors were isointense to skeletal muscle on T1-weighted MRIs and hyperintense on T2-weighted images. They also displayed septum-like internal inhomogeneity and surrounding hypointense capsular band. The combination of scintigraphy and MRI is of value in correctly diagnosing extraabdominal desmoid tumors except in the rare case of fibrotic very-low-grade sarcoma.