Superficial Fibromatoses are Genetically Distinct from Deep Fibromatoses

Montgomery, Elizabeth A.; Lee, Jae-Hyuk; Abraham, Susan C.; Wu, Tsung–Teh

doi:10.1038/modpathol.3880374

Cited by 113 publications

(69 citation statements)

References 46 publications

(30 reference statements)

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“…To date, we have found no somatic mutations within exon 3 of beta-catenin (data not shown). These data are consistent with Montgomery et al (2001) findings, which that show no mutations within either beta-catenin (exon 3), or the mutation cluster region adenomatous polyposis coli (APC) gene (Montgomery et al, 2001).…”

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confidence: 81%

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Beta-catenin expression in Dupuytren's disease: potential role for cell–matrix interactions in modulating beta-catenin levels in vivo and in vitro

et al. 2003

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Dupuytren's disease (DD) is a superficial fibromatosis of the hand. Although the molecular mechanisms responsible for this disease are unknown, recent studies suggest that beta-catenin may be a key factor involved in fibromatosis. In this study, we analysed the in vivo and in vitro expression levels of beta-catenin in DD, using surgical specimens and primary cell lines. Although no somatic mutations (exon 3) of beta-catenin were detected, Western blot analysis revealed high levels of beta-catenin in diseased palmar fascia, and low to undetectable levels of beta-catenin in patient-matched normal palmar fascia. Immunohistochemistry analysis showed high levels of beta-catenin expression within the disease fascia, as well as cytoplasmic and nuclear accumulations of the protein.Immunoprecipitation of beta-catenin from seven patient lesions showed the protein to be tyrosine phosphorylated. Lastly, Western analysis of three patient-matched (disease and normal fascia) primary cell cultures showed significantly elevated levels of beta-catenin in disease cells cultured in three-dimensional collagen lattices. This is the first extensive in vivo and in vitro characterization of betacatenin in DD, and the first to suggest that the extracellular matrix may play an important role in modulating beta-catenin stability in DD.

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supporting

confidence: 81%

“…A recent immunohistochemistry (IHC) study has documented beta-catenin expression in several types of superficial fibromatoses, including DD (Montgomery et al, 2001). However, unlike more aggressive fibromatoses (Tejpar et al, 1999;Abraham et al, 2002), beta-catenin (exon 3) does not appear to be mutated.…”

mentioning

confidence: 99%

Beta-catenin expression in Dupuytren's disease: potential role for cell–matrix interactions in modulating beta-catenin levels in vivo and in vitro

et al. 2003

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“…32,33 Superficial fibromatoses appear to have mutations of neither gene, but have a lesser degree of nuclear ␤-catenin accumulation, indicating a possible role of abnormal ␤-catenin regulation in those lesions, and indicating a role for an APC‫-␤گ‬catenin‫گ‬wnt pathway signaling in most cases of fibromatosis. 34 Evidence for interaction of the estrogen receptor pathway with the APC beta catenin pathway is circumstantial. In endometrial carcinoma, nuclear ␤-catenin expression is associated with endometrioid histology and positive staining for ERs.…”

Section: Discussionmentioning

confidence: 99%

Estrogen receptor‐β expression in extraabdominal fibromatoses

Deyrup

Tretiakova

Montag

2005

Cancer

123

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BACKGROUNDEarly experiments using ligand‐binding assays demonstrated the presence of estrogen receptor (ER) in fibromatoses. These findings were not confirmed by later studies using immunohistochemical analysis.METHODSTo verify the expression of ERs in fibromatosis as well as to clarify the inconsistency between radioligand and early immunohistochemical studies, the authors examined a series of 40 extraabdominal fibromatoses using antibodies raised against ERβ.RESULTSAll 40 cases of extraabdominal fibromatosis were at least focally positive for ERβ. Thirty‐three of 40 (83%) displayed 3+ (>50%) expression, 5 of 40 (12%) were 2+ (11–50%), and 2 of 40 (5%) cases showed 1+ (<10%) expression. All cases were negative for ERα.CONCLUSIONSAlthough extraabdominal fibromatosis does not express ERα, there appears to be nearly uniform expression of ERβ. This finding clarifies discrepancies in the literature regarding estrogen expression in fibromatosis, and provides a biological mechanism for the action of antiestrogenic compounds in the treatment of fibromatosis. Estrogen antagonists may have a role in the treatment of refractory or recurrent extraabdominal fibromatoses. Cancer 2006. © 2005 American Cancer Society.

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“…Etiology of DT is not well understood and the lesions are often described as proliferative fibroblastic processes, rather than as true neoplasms. Some authors argue that genetically predisposition is the most important factor for tumor growth, often associated with the familial adenomatous polyposis and Gradner's syndrome, while other authors emphasize the role of environmental factors such as long-term mechanical irritation and inducted surgery scars and implants in formation of DT [4,12,13].…”

Section: Discussionmentioning

confidence: 99%

“…Genetical predisposing plays an important role in development od DT, and is often associated with the familial adenomatous polyposis and Gradner's syndrome. Other factors that influence formation of DT are chronic mechanical irritation and surgery induced scars and implants [4,12,13]. Optimal management for DT has not be established, although surgery with radical resection with wide margins of the tumor remain the primary method of treatment.…”

Section: Introductionmentioning

confidence: 99%

Limb Salvage Treatment of Large Multicentric Extra-Abdominal Desmoid Tumor of Lower Extremity

2017

JACCOA

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This article presents a case report of large isolated extra-abdominal desmoid tumor on ipsilateral knee and ankle joint, which was successful treated with combination of surgical -limb salvage procedure and oncologist therapy in the form of hormone and anti-infammatory therapy. A 36 years old male comes, five years after primary treatment of tumor mass of the anterior abdominal wall to Department of Orthopedic surgery because he has new two large tumor changes in the front of the right knee (approximate dimensions 26x10x22 cm (CCxLLxAP)) and ankle joint (16 x 5 cm (APxLL)), which have been progressively increased over the time. The optimal management of desmoid tumor has not be established, because this tumor entity is rare and all recommendations for treatment come from the individual cases described in the literature. Combination of surgery, postoperative hormone and anti-inflammatory therapy is best way of treatment for non resectable tumors.

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Superficial Fibromatoses are Genetically Distinct from Deep Fibromatoses

Cited by 113 publications

References 46 publications

Beta-catenin expression in Dupuytren's disease: potential role for cell–matrix interactions in modulating beta-catenin levels in vivo and in vitro

Beta-catenin expression in Dupuytren's disease: potential role for cell–matrix interactions in modulating beta-catenin levels in vivo and in vitro

Estrogen receptor‐β expression in extraabdominal fibromatoses

Limb Salvage Treatment of Large Multicentric Extra-Abdominal Desmoid Tumor of Lower Extremity

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