[Long-term experience with therapy of a female patient with Gardner's syndrome, first presenting with extra-abdominal desmoid tumor, and review of the literature]

Magy Seb. 2009 Apr;62(2):75-82. doi: 10.1556/MaSeb.62.2009.2.5.
[Article in Hungarian]

Abstract

Gardner's syndrome is a clinical subgroup of familial adenomatous polyposis, an autosomal dominant disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and soft tissue tumours. Aggressive desmoid tumours can be very difficult to manage in patients with Gardner's syndrome. We present a case of a 17-year-old female who presented with an aggressive desmoid tumor arising of the lumbar area as part of her Gardner's syndrome. She was treated with surgery, nonsteroidal anti-inflammatory drugs, tamoxifen and radiotherapy, and was followed up for 80 months. We conclude that desmoid tumors can precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome. Such patients should be evaluated with genetic testing followed by colonoscopy. Desmoid tumours should be managed in a multidisciplinary setting, as well.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Antineoplastic Agents / therapeutic use*
  • Antineoplastic Agents, Hormonal / therapeutic use
  • Base Sequence
  • Female
  • Fibromatosis, Aggressive / diagnosis*
  • Fibromatosis, Aggressive / drug therapy
  • Fibromatosis, Aggressive / etiology
  • Fibromatosis, Aggressive / genetics*
  • Fibromatosis, Aggressive / pathology
  • Gardner Syndrome / complications
  • Gardner Syndrome / diagnosis*
  • Gardner Syndrome / drug therapy
  • Gardner Syndrome / genetics*
  • Gardner Syndrome / pathology
  • Genes, APC*
  • Germ-Line Mutation
  • Humans
  • Molecular Sequence Data
  • Neoplasm Staging
  • Polymorphism, Genetic

Substances

  • Antineoplastic Agents
  • Antineoplastic Agents, Hormonal