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At least 19 recordsLinked to original sources
PubMed2006

Expression profiles of sex steroid receptors in desmoid tumors.

Desmoid tumors are benign fibrous neoplasms which arise from the fibrous tissue of intra- and extra- abdominal sites, but their clinical management is sometimes difficult because of extensive infiltration into the surrounding tissues. Desmoid tumors commonly occur in women, especially after childbirth. Recently, both clinical and experimental findings indicate the possible roles of sex steroids in the development and progression of desmoid tumors but detailed information is still ambiguous. In this study, we first examined immunoreactivity of sex steroid receptors in desmoid tumors (27 cases) by immunohistochemistry and compared the findings with those in reactive self-limiting lesions associated with fibrosis (8 cases). Estrogen receptor (ER) alpha and ERbeta immunoreactivities were detected in 7.4% (2/27) and 7.4% (2/27) of desmoid tumors, respectively. One desmoid tumor expressed both ERalpha and ERbeta. Progesterone receptor (PR)-A and PR-B were detected in 25.9% (7/27) and 33.3% (9/27), respectively, and androgen receptor (AR) in 52.9% (14/27). In reactive lesions with fibrosis, only AR was detected in 37.5% (3/8). Sex steroid receptor mRNAs was further examined by reverse transcription and polymerase chain reaction (RT-PCR) analysis using fresh frozen tissues, demonstrating the expression of PR (PR-A and/or PR-B) and AR mRNAs in eight desmoid tumors examined and all cases of reactive fibrosis. These results indicate that sex steroid hormones might play an important role in the pathogenesis of desmoid tumors and could lead to the introduction of novel hormone therapeutic approaches in managing patients with recurrent desmoid tumors.

Adolescent↗
PubMed1995

[Clinical behavior and cytobiological activity of desmoid tumor].

Desmoid tumor, characterized by aggressive growth and frequent recurrence without metastasis after excision, remains to be a poorly understood neoplasm. In seventeen patients with desmoid tumor of the extremities, the relationship between the cytobiological activity and prognosis of desmoid tumor was studied by reviewing clinical material, histologic examination, statistical analysis of Ag-NORs, and morphometry of tumor cell nuclei in comparison with those of fibrosarcoma and soft tissue fibroma. The results showed that the cells of desmoid tumor were highly proliferative with their biological activity bearing resemblance to fibrosarcoma. Thus we have good grounds for grouping desmoid tumors as of low grade malignancy. We believe that initial surgical resection with a wide margin is the key for good prognosis because a lower recurrence rate will result.

Adolescent↗
PubMed2002

[Desmoids tumors].

Desmoid tumor can be defined as a pseudoencapsulated infiltrative growth of well-differentiated collagenous fibroblasts and fibrocytes arising either in fascia or musculoaponeurotic structures. The etiology of desmoid tumors is poorly defined. The most commonly implicated etiologic factors are trauma, hormonal disturbances, and genetic or hereditary factors. Desmoid tumors of the anterior abdominal wall are much less common than extra-abdominal desmoids; they may occur at any age but are most common in the third and fourth decades. Although both sexes may be affected, abdominal desmoids predominate in females, particularly in females of childbearing age. Extra-abdominal desmoids, which most commonly occur on the back, chest wall, head and neck, or lower extremity, have a male predominance. Most patients complain of a painless mass of several months or years' duration. The primary consideration in surgical treatment of desmoid tumors should be the prevention of local recurrence. In most instances, this can be achieved by wide local excision or muscle group resection. There is no clear evidence that irradiation or chemotherapy are effective in controlling desmoid tumors.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed2000

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.

Desmoid tumors arise sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis (FAP). In FAP, two distinct clinical presentations of the desmoid phenotype are seen: 1) one or a few desmoid tumors present predominantly in the abdominal wall or the abdomen; 2) a florid proliferation of tumors early in life, mostly near the axial skeleton or extremities. These different phenotypes have been associated with different sites of germline mutations in the adenomatous polyposis coli gene (APC gene). We present a large, French-Canadian kindred with a florid desmoid tumor phenotype caused by a germline mutation at codon 2643-2644 of the APC gene. The phenotype was characterized by the early onset of multiple tumors, arising near the axial skeleton and in proximal extremities. The penetrance of desmoid tumors was near 100% in this kindred. However, the expression of the disease was variable amongst the different affected relatives. Many gene carriers had cutaneous cysts. Polyposis of the colon was rarely observed in the affected individuals and we did not document upper gastro-intestinal polyps. The mutant APC allele did not express a stable truncated protein in vivo. Molecular analysis of the proband's tumor DNA revealed a somatic inactivating mutation of the wild-type allele. Immunohistochemistry on the tumor also demonstrated elevated levels of beta-catenin. The present study demonstrates that this extreme 3' APC mutation is associated with a severely penetrant desmoid phenotype and attenuated polyposis coli. It also suggests the involvement of the beta-catenin pathway in the development of desmoid tumors in FAP. The natural history of the disease is variable between individuals, and surgical interventions have to be timed appropriately due to the frequent recurrences.

3' Untranslated Regions↗
PubMedDate not supplied

Analysis of Wnt/Beta catenin signalling in desmoid tumors.

Desmoid tumors are fibromatous lesions occurring both sporadically and in patients with familial adenomatous polyposis (FAP). Because of the association of these tumors with the hereditary colorectal cancer syndrome FAP we set out to define the molecular events driving desmoid tumorigenesis, hypothezising these might be identical to events driving colorectal tumorigenesis. We found that whereas FAP-associated desmoid tumors are caused by germline APC mutations followed by somatic inactivation of the wild-type APC allele, sporadic desmoids are usually characterized by oncogenic mutations in the b-catenin gene, both identical molecular alterations to those found in the vast majority of colorectal cancers. Next we set out to investigate the cellular pathways activated by these mutations, and identified activation of the Wnt signaling pathway in desmoid tumors. Wnt signaling modulates expression of developmental genes and cell fate via beta-catenin, and has been implicated in many cancer types. Currently we are investigating tissue-specific downstream effectors of the Wnt pathway that might be responsible for the behaviour of these invasive fibrous tumors. Our findings also point to a role for this pathway in the regulation of normal myofibroblast proliferation and suggest novel treatments in desmoid tumors and other fibrous proliferative disorders.

Adenomatous Polyposis Coli↗
PubMed2003

Molecular cytogenetic characterization of desmoid tumors.

Desmoid tumors are benign neoplasms of the fibromatosis group. Data on their acquired chromosomal changes are sparse and, therefore, we wanted to ascertain what genomic losses and gains these tumors may have incurred. DNA was extracted from a total of 26 formalin-fixed, paraffin-embedded desmoid tumors followed by comparative genomic hybridization (CGH) and interphase fluorescence in situ hybridization (I-FISH) analyses. Ten of 12 informative tumors were normal by CGH; the two abnormal ones had loss of chromosome 6 and loss of 6q and gain of chromosome 20, respectively. I-FISH analyses with an alpha-satellite probe specific for chromosome 8 of 26 desmoids, including one tumor that by karyotyping had +i(8)(q10), showed no evident abnormalities. An explanation for the relatively high frequency of genomically normal tumors by CGH seen in this study may be sought in the fact that as many as 10 of the 12 informative tumors were abdominal desmoids, a subset of tumors also previously found to exhibit genomic changes only rarely. It is therefore possible that abdominal desmoids might be non-neoplastic tumors or neoplastic tumors with genetic changes too small to be discovered by CGH, whereas desmoid tumors from other locations exhibit detectable genomic changes at a significantly higher frequency.

Adult↗
PubMed2004

Identification of IGFBP-6 as a significantly downregulated gene by beta-catenin in desmoid tumors.

Desmoid tumors (aggressive fibromatosis) are locally invasive soft tissue tumors in which beta-catenin-mediated TCF-3-dependent transcription is activated. To provide more insight into the pathophysiology of these tumors, expression profiles were generated using oligonucleotide arrays (Affymetrix). In total, 69 differentially expressed genes were identified in desmoids compared to normal fibroblasts (fascia) from the same patients. The differential expression of a selection of genes was confirmed using RT-PCR and Northern blotting. We further evaluated the insulin-like growth factor-binding protein 6 (IGFBP-6), a gene that was consistently downregulated in all desmoids tested. Promotor studies and electromobility shift assays revealed two functional beta-catenin/TCF-responsive elements in the human IGFBP-6 promoter. These findings suggest that IGFBP-6 is directly downregulated by the beta-catenin/TCF complex in desmoid tumors, and imply a role for the IGF axis in the proliferation of desmoid tumors.

Animals↗
PubMed1992

[Desmoid tumors].

Desmoid tumors in various anatomic sites were treated in 4 females and 3 males, ranging in age from 16-50 years, during a 6-year period. In 5 the tumor was completely excised with free margins. In the other 2 excision was incomplete and the tumor recurred within a few months. Desmoid tumors have a marked tendency to local recurrence, and therefore should be widely excised. There is no evidence that adjuvant therapy has a place in the management of these tumors.

Adolescent↗
PubMed1992

[Diagnostic value of abdominal pain in intra-abdominal desmoid tumor].

Desmoid tumors are rare, less than 0.1% of all tumors (6.2%). The word desmoid has been recognized since 1838, and applied to non-encapsulated tumors, of connective origin and locally infiltrative. Generally, their course is painless and the recurrence rate is high if resection has not been complete. Most of these tumors can be found in different anatomic areas, most commonly the anterior abdominal wall although other sites, intra- or extra-abdominal, have been reported. We describe the case of a 50 year old female patient, with abdominal pain caused by an intraabdominal desmoid tumor.

Abdominal Neoplasms↗
PubMed2006

The enigma of desmoid tumors.

Desmoid tumors (aggressive fibromatosis) are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis (FAP). The etiology of these tumors is unknown, but hormonal, genetic, and physical factors play a role in their development and growth. A distinction is often made between desmoids in patients with FAP and those in patients without FAP, but clinically these tumors are treated the same; the only difference is the preferential intra-abdominal location of FAP desmoids. The goal of desmoid treatment is local control. Choosing the appropriate method for achieving local control may be complex as the functional and cosmetic outcomes of each method must be considered. In addition, because desmoids spontaneously regress, any claim of successful intervention must be viewed skeptically. Local control is mainly achieved by surgical intervention and may be improved with the addition of radiation therapy (RT). For patients who cannot undergo surgery, the options for local control include RT and systemic therapies such as hormones, nonsteroidal anti-inflammatory drugs (NSAIDs), interferon, and chemotherapy. Patients with symptomatic, progressive disease who can tolerate chemotherapy should be presented with the option of low-dose or standard antisarcoma chemotherapy. Although it is unclear which regimen is better, patients appear to have quicker responses to the standard antisarcoma therapy. Hormone therapy, NSAIDs, and interferon are used often, with varying success, and should be reserved for minimally symptomatic patients or for patients who do not want or are not candidates for chemotherapy. The treatment of desmoid tumors remains an enigma. As more options become available, selecting the correct therapy becomes more nuanced. Further clinical trials are needed to help the clinician navigate his or her way through the morass of desmoid tumor therapies.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1991

Imaging of intra- and extraabdominal desmoid tumors.

Desmoid tumors are characterized by proliferation of fibroblastic cells that arise from the fascia or aponeurosis of muscle. They are most commonly found in the abdomen of adults, arising from the anterior abdominal wall, mesentery, or retroperitoneum. At sonography, desmoids have variable echogenicity, with smooth, well-defined margins. On contrast-enhanced computed tomographic scans, the tumors are generally high attenuation (relative to muscle) and have either ill- or well-defined margins. At magnetic resonance imaging, desmoids have low signal intensity relative to muscle on T1-weighted images and variable signal intensity on T2-weighted images. There are no specific imaging features to distinguish desmoid tumors from other solid masses. The diagnosis of desmoid tumor should be considered in patients with an abdominal mass, a history of abdominal surgery or injury, or Gardner syndrome.

Abdominal Neoplasms↗
PubMed1989

Management of desmoid tumors.

Desmoid tumors are rare, being less than 0.03 per cent of all neoplasms. Because of scarcity of data and relatively small numbers of patients, optimal treatment remains controversial. In this report, our experience with 36 patients evaluated and treated from 1960 to 1987 is analyzed. The most common primary site was the wall of the chest (ten); eight tumors originated in the abdominal wall. Nine patients had a history of previous trauma, and eight of these were women. Thirty-two patients had wide local excision and two had amputations. Clear margins were obtained in only 22 patients despite an attempt at wide resection in all instances. With a mean follow-up period of 41 months and a median of 24 months, only one of 22 patients with negative histologic margins had recurrence of tumor. Among the 11 patients with positive margins, four received postoperative radiation therapy and two remain disease-free; of the seven remaining patients with positive margins, three had recurrences. One patient with unresectable disease was treated with tamoxifen with regression of tumor and remains alive 15 months later. These data suggest that the best treatment of desmoid tumors remains resection with a clear margin of normal tissue surrounding the tumor. Adjuvant radiotherapy did not appear to decrease the rate of local recurrence.

Actuarial Analysis↗
PubMed1986

The use of intraoperative radiotherapy and external beam therapy in the management of desmoid tumors.

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.

Adolescent↗
PubMed2003

Percutaneous chemical ablation of desmoid tumors.

Desmoid tumors are rare fibroblastic neoplasms characterized by highly aggressive local invasion and high recurrence rates after surgical excision. Responses to chemotherapy and radiation therapy are uncommon. The use of percutaneous chemical ablation performed under imaging guidance is described in two patients with recurrent and/or unresectable disease. A complete response was achieved in one patient and a partial response was achieved in the other patient; these responses were sustained during 2 years of follow-up. This technique may hold promise in the treatment of these challenging lesions.

Acetic Acid↗
PubMedDate not supplied

Gardner syndrome and desmoid tumors.

Desmoid tumours present difficult management problems in patients with Gardner's syndrome. We recently studied two patients with Gardner's syndrome, who developed a desmoid tumour arising of the abdominal wall and mesenteric root. One patient had a total resection of the mesenteric desmoid tumour followed by postoperative radiotherapy. No recurrence occurred in the last three years. The other patient had an incomplete resection and refused postoperative radiotherapy. Abdominal CT scan revealed tumour expansion 6 months postoperatively. From our experience and with respect to current literature, we suggest that complete surgical excision combined with radiotherapy (4.000-6.000 rads) could diminish the recurrence rate of desmoid tumours. When resection is incomplete or technically impossible, radiotherapy remains the second choice of treatment.

Combined Modality Therapy↗
PubMedDate not supplied

[Obstructive uropathy in Gardner's syndrome. Intra-abdominal desmoid tumor].

Desmoid tumours are benign neoplasias manifesting themselves clinically as aggressive fibromatoses. They may be sited both in mesenteric and retroperitoneal fat. Owing to the great size they reach and to their local infiltrative character they occasionally lead to the development of intestinal occlusive syndromes and, in exceptional cases, to obstructive uropathy of the upper urinary tract. Their incidence of presentation in the general population is low, however they develop more frequently in patients suffering from colonic polyposis in the family and they form part of the extracolonic manifestations of Gardner's syndrome. In 1987 we treated a young patient, a genetic carrier of familiar colonic polyposis who had presented relapse of a previous desmoid. The location of the tumour in narrow pelvis made its clinical debut as a intestinal pseudo-occlusion and determined a bilateral ureteral obstruction and the formation of a major urinoma. The joint utilization of instrumental maneuvers and surgical approaches enabled us to solve the intestinal and urological commitment satisfactorily. We carry out an overall review and analyse the data published on the incidence, prognosis and treatment of obstructive uropathy in Gardner's syndrome. We also carry out an updating on the biology of the desmoid tumour.

Adult↗
PubMed2005

Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors.

Desmoid tumors (aggressive fibromatosis) are locally invasive soft tissue tumors in which beta-catenin/TCF3 mediated Wnt signaling is activated. More than 80% of desmoid tumors contain activating mutations in beta-catenin. It has been shown that the Wnt signaling pathway interacts with Wilms' tumor gene 1 (WT1) in normal kidney development and plays a role in the genesis of some Wilms' tumors. About 15% of Wilms' tumors contain WT1 mutations and of these, about 50% contain beta-catenin mutations. This overlap in mutation pattern of WT1 and beta-catenin in Wilms' tumor suggests that these 2 genes may collaborate in the genesis of a subset of Wilms' tumors. To investigate whether this hypothesis could be extended to other Wnt-dependent tumor types, we searched for WT1 mutations and studied WT1 expression in beta-catenin mutant desmoid tumors. We investigated the expression of WT1 mRNA and protein in desmoid tumors. Medium to high abundant levels of WT1 mRNA were detected by TaqMan quantitative PCR in all tested desmoid cells, whereas adjacent normal fibroblasts showed less expression of WT1. Western blot analysis and immunohistochemistry confirmed this overexpression at the protein level. A mutational screen of the WT1 zinc-finger region by sequence analysis did not identify any mutations. Finally, we investigated a possible role of beta-catenin on WT1 regulation and vice versa. Overexpression of different beta-catenin mutants in the HEK293T cell line did not modulate WT1 promoter activity and WT1 did not affect beta-catenin /TCF transcriptional activity in this cell line. These results show that the wild-type WT1 gene is strongly overexpressed in beta-catenin mutant desmoid tumors and may play a role in tumorigenesis of desmoid tumors, similar to what has been suggested in some epithelial malignancies.

Alternative Splicing↗
PubMed1999

Desmoid tumors of the pleura: a clinicopathologic mimic of localized fibrous tumor.

Intrathoracic desmoid tumors of the pleura are unusual tumors that are often clinically and histologically confused with localized fibrous tumor of the pleura or benign neurogenic tumors. We studied four cases of intrathoracic desmoid tumor of the pleura and reviewed the clinical, histopathologic, and immunohistochemical features of the four patients. Two men and two women, ranging in age from 16 to 66 years (mean, 44 yr) comprised the study group. Three patients presented with chest pain and one with shortness of breath. Two patients had a history of associated trauma in the area of the tumor. Three of the lesions were based in the parietal pleura and one in the visceral pleura. Treatment included complete resection (two cases), subtotal resection (one case), and subtotal resection followed by radiation therapy and complete resection (one case). The mean tumor size was 12.5 cm, and all of the tumors exhibited a bosselated, firm, white, cut surface. The histologic features of intrathoracic desmoid tumors were similar to those of desmoid tumors at more conventional sites. Infiltration of the adjacent fat and skeletal muscle was invariably present. The tumor cells were immunoreactive for vimentin, desmin, smooth muscle actin, and muscle-specific actin in three of the four cases and were negative for S-100 protein. Follow-up to date shows stable residual disease at 12 months (one case) and two patients with no evidence of disease at 12 and 96 months, respectively. Intrathoracic desmoid tumors often exhibit clinical and radiographic features similar to localized fibrous tumor of the pleura. They generally have histologic and behavioral characteristics identical to those of desmoid tumors at conventional sites. Like desmoid tumors elsewhere, complete resection with negative margins is vital to prevent local recurrence. Desmoid tumor should be considered in the differential of localized fibrous tumor of the pleura.

Adolescent↗