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Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors).

Publication ,  Journal Article
Alman, BA; Li, C; Pajerski, ME; Diaz-Cano, S; Wolfe, HJ
Published in: Am J Pathol
August 1997

Sporadic aggressive fibromatosis (also called desmoid tumor) is a monoclonal proliferation of spindle (fibrocyte-like) cells that is locally invasive but does not metastasize. A similarity to abdominal fibromatoses (desmoids) in familial adenomatous polyposis and a cytogenetic study showing partial deletion of 5q in a subset of aggressive fibromatoses suggests that the adenomatous polyposis coli (APC) gene plays a role in its pathogenesis. APC helps regulate the cellular level of beta-catenin, which is a downstream mediator in Wnt (Wingless) signaling. beta-Catenin has a nuclear function (binds transcription factors) and a cell membrane function (is a component of epithelial cell adherens junctions). Six cases of aggressive fibromatosis of the extremities from patients without familial adenomatous polyposis, or a family history of colon cancer, were studied. Immunohistochemistry, using carboxy and amino terminus antibodies to APC, and DNA sequencing showed that three of the six contained an APC-truncating mutation, whereas normal tissues did not contain a mutation. Western blot and Northern dot blot showed that all six tumors had a higher level of beta-catenin protein than surrounding normal tissues, despite containing similar levels of beta-catenin mRNA. Immunohistochemistry localized beta-catenin throughout the cell in tumor tissues, although it localized more to the periphery in cells from normal tissues. Reverse transcription polymerase chain reaction showed that the tumors expressed N-cadherin but not E-cadherin (a pattern of expression of proteins making up adherens junctions similar to fibrocytes), suggesting that the specific adherens junctions present in epithelial cells are not necessary for beta-catenin function. Increased beta-catenin may cause the growth advantage of cells in this tumor through a nuclear mechanism. The increased protein level, relative to the RNA level, suggests that beta-catenin is degraded at a lower rate compared with normal tissues. In some cases, this is caused by a somatic mutation resulting in a truncated APC protein.

Duke Scholars

Published In

Am J Pathol

ISSN

0002-9440

Publication Date

August 1997

Volume

151

Issue

2

Start / End Page

329 / 334

Location

United States

Related Subject Headings

  • beta Catenin
  • Trans-Activators
  • Signal Transduction
  • Pathology
  • Mutation
  • Immunohistochemistry
  • Humans
  • Genes, APC
  • Gene Expression Regulation, Neoplastic
  • Fibromatosis, Aggressive
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Alman, B. A., Li, C., Pajerski, M. E., Diaz-Cano, S., & Wolfe, H. J. (1997). Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol, 151(2), 329–334.
Alman, B. A., C. Li, M. E. Pajerski, S. Diaz-Cano, and H. J. Wolfe. “Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors).Am J Pathol 151, no. 2 (August 1997): 329–34.
Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ. Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997 Aug;151(2):329–34.
Alman, B. A., et al. “Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors).Am J Pathol, vol. 151, no. 2, Aug. 1997, pp. 329–34.
Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ. Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997 Aug;151(2):329–334.
Journal cover image

Published In

Am J Pathol

ISSN

0002-9440

Publication Date

August 1997

Volume

151

Issue

2

Start / End Page

329 / 334

Location

United States

Related Subject Headings

  • beta Catenin
  • Trans-Activators
  • Signal Transduction
  • Pathology
  • Mutation
  • Immunohistochemistry
  • Humans
  • Genes, APC
  • Gene Expression Regulation, Neoplastic
  • Fibromatosis, Aggressive