TITLE

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

AUTHOR(S)
Bisgaard, M. L.; Ripa, R.; Knudsen, A. L.; Bülow, S.
PUB. DATE
February 2004
SOURCE
Gut;Feb2004, Vol. 53 Issue 2, p266
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. Aims: The phenotype in patients without an identified causative APC mutation was compared with the phenotype in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. Patients: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. Methods: Differences in 16 clinical manifestations were analysed according to the patient's mutational status. Two sided independent t sample test, two sided χ² test, and odds ratios were calculated. Results: Patients without identified APC mutations had a unique and severe phenotype, which was roughly described as: young age at diagnosis and subsequent death in spite of development of few colorectal adenomas; low risk of involvement of the upper gastrointestinal tract, as reflected by a low mean Spigelman stage, and a low risk of fundic gland polyposis. Finally, they had significantly fewer affected family members, although they do not themselves more often represent an isolated case. Conclusions: The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.
ACCESSION #
12998651

 

Related Articles

  • Divergent Differentiation In Malignant Soft Tissue Neoplasms: The Paradigm of Liposarcoma and Malignant Peripheral Nerve Sheath Tumor. Pytel, Peter; Taxy, Jerome B.; Krausz, Thomas // International Journal of Surgical Pathology;Jan2005, Vol. 13 Issue 1, p19 

    Cites a study conducted by researchers in the U.S. which used malignant peripheral nerve sheath tumor and liposarcoma to emphasize the potential diagnostic challenge of divergent differentiation in sarcomas. Evidence showing minority of the sarcomas have diverse phenotype in addition to...

  • Tumors and Cancers.  // Current Medical Literature: Gastroenterology;2009, Vol. 28 Issue 3, p76 

    This article presents updates on studies related to tumors and cancers. A study found that a simple prompt in a clinical chart can help improve colorectal cancer screening rates. One study examined the association between hyperplastic polyps and colonic adenomas. Another study found that...

  • GIST: An Update. Rosai, Juan // International Journal of Surgical Pathology;Jul2003, Vol. 11 Issue 3, p177 

    Provides information about gastrointestinal stromal tumor (GIST). Immunohistochemical and ultrastructural features; Tool for the confirmation of the diagnosis of GIST tumor; Details of the primary treatment of GIST.

  • Villous Adenomas of the Stomach. Mark, Lloyd K.; Samter, Thomas // American Journal of Gastroenterology;Aug1975, Vol. 64 Issue 2, p137 

    Presents information on a medical case of a villous adenomas of the stomach. Case report of the patient; Description of the tumor; Signs and symptoms of villous adenomas.

  • A Prospective Evaluation of the Upper Gastrointestinal Tract and Periampullary Region in Patients with Gardner Syndrome. Shemesh, Eliahou; Bat, Leon // American Journal of Gastroenterology;Nov1985, Vol. 80 Issue 11, p825 

    Neoplasms of the upper gastrointestinal tract and periampullary region occur in patients with Gardner syndrome (GS), but their true incidence is not yet established. Fourteen patients with GS underwent esophagogastroduodenoscopy prior to colectomy and every 1-3 years thereafter. In 10 patients...

  • Genetic Alterations in Gastric Adenomas of Intestinal and Foveolar Phenotypes. Abraham, Susan C.; Seun Ja Park; Jae-Hyuk Lee; Mugartegui, Lilian; Isung-Teh Wu // Modern Pathology;Aug2003, Vol. 16 Issue 8, p786 

    Gastric adenomas are unusual neoplasms that can constitute one of the direct precursors to gastric adenocarcinoma. Most gastric adenomas are comprised of polypoid projections of dysplastic epithelium with at least focal intestinal-type differentiation (containing goblet cells and/or Paneth...

  • An update on molecular genetics of gastrointestinal stromal tumours. Tornillo, L.; Terrocciano, L. M. // Journal of Clinical Pathology;Jun2006, Vol. 59 Issue 6, p557 

    Gastrointestinal stromal tumours (GISTs) are the most common primary mesenchymal tumours of the gastrointestinal tract. Most of them show activating mutations of the genes coding for KIT or platelet-derived growth factor receptor α (PDGFRα), two receptor tyrosine kinases (RTKs). The RTK...

  • Status of mismatch repair genes hMSH2 and hMSH6 in colorectal cancer in Saudi patients: an immunohistochemical analysis. Alkhalidi, H.; Kfoury, H. // Eastern Mediterranean Health Journal;2012, Vol. 18 Issue 11, p1114 

    This study aimed to identify the status of 2 major microsatellite instability markers (repair genes hMSH2 and hMSH6) in colorectal cancer cases operated at King Khalid University Hospital, Riyadh, Saudi Arabia between 2007 and 2009. Immunohistochemical study of microsatellite instability was...

  • First case of villous adenoma of the appendix leading to acute appendicitis presenting as strangulated femoral hernia: changes in management owing to concurrent adenoma. Suppiah, A.; Barandiaran, J.; Morgan, R.; Perry, E. // Hernia;Feb2008, Vol. 12 Issue 1, p95 

    A 78-year-old lady presented with signs and symptoms of a strangulated femoral hernia. Peri-operatively she was found to have appendicitis within the hernia sac. Appendicectomy and non-mesh hernia repair were performed. Histology revealed acute inflammation and a villous adenoma of the appendix....

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics