Familial fibrocystic pancreatic atrophy with endocrine cell hyperplasia and pancreatic carcinoma

Am J Surg Pathol. 2001 Aug;25(8):1047-53. doi: 10.1097/00000478-200108000-00009.

Abstract

Understanding the pathology of familial pancreatic carcinoma may provide important insights into pancreatic tumorigenesis. We now describe in detail the pancreatic pathology of an autosomal dominant pancreatic carcinoma kindred with distinct clinical, genetic, and pathologic manifestations differing from all other reported forms of sporadic or familial pancreatic neoplasia. Affected individuals develop a prodrome of diabetes mellitus, pancreatic exocrine insufficiency, and characteristic pancreatic imaging abnormalities. Eleven family members have undergone total pancreatectomy, revealing a unique and characteristic fibrocystic, lobulocentric pancreatic atrophy. This was patchy to diffuse in distribution and was invariably associated with a nesidioblastosis-like endocrine cell hyperplasia. All but one resected pancreas demonstrated glandular epithelial dysplasia: 10 had low-grade dysplasia (pancreatic intraductal neoplasia grade II of III or PanIN II) and seven also had high-grade dysplasia (pancreatic intraductal neoplasia grade III of III or PanIN III). Dysplasia was multifocal in small-to medium-sized duct-like structures within areas of acinar atrophy, microcystic change, and mucinous hyperplasia. Two pancreata had carcinomas of multiple and unusual histologic subtypes, including small cell undifferentiated carcinoma and giant cell anaplastic carcinoma. The findings in this kindred yield important information on a distinctive and previously unrecognized pancreatic cancer precursor. Recognition of this entity may help identify additional kindreds and perhaps the underlying genetic defect. As is the case for other familial cancers, the as yet unknown specific genetic defect may have wider implications for pancreatic cancer in general.

MeSH terms

  • Adult
  • Atrophy / pathology
  • Biomarkers / analysis
  • Carcinoma / complications
  • Carcinoma / genetics
  • Carcinoma / pathology*
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / pathology*
  • Female
  • Genes, Dominant
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / pathology*
  • Genetic Predisposition to Disease*
  • Humans
  • Hyperplasia / pathology
  • Immunohistochemistry
  • Islets of Langerhans / chemistry
  • Islets of Langerhans / pathology*
  • Male
  • Middle Aged
  • Pancreatic Neoplasms / complications
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / pathology*
  • Pedigree
  • Precancerous Conditions / pathology

Substances

  • Biomarkers