Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient

Clin Chem. 1994 Oct;40(10):1972-4.

Abstract

A case of adenocarcinoma of the pancreas and mild lung disease in a 39-year-old man homozygous for the delta F508 cystic fibrosis mutation is presented. Cystic fibrosis is the most common lethal genetic disease in Caucasians, and is most commonly associated with severe obstructive lung disease. To our knowledge, this is only the fifth case of adenocarcinoma of the pancreas in a CF patient to be reported and the first case for which molecular data are available. The rare incidence of this type of malignancy in the general population suggests a possible association of CF with this malignant disease.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / complications*
  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Adult
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Homozygote
  • Humans
  • Lung Diseases / complications*
  • Lung Diseases / microbiology
  • Lung Diseases / pathology
  • Male
  • Membrane Proteins / genetics*
  • Mutagenesis, Site-Directed
  • Mutation*
  • Pancreatic Neoplasms / complications*
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / pathology
  • Polymerase Chain Reaction

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator