Hereditary Pancreatic Cancer Syndrome
Joel K. Greenson, MD
 This medium-power image from a patient with hereditary pancreatitis shows chronic pancreatitis with scar  and atrophy of the acinar units  . (Courtesy M. Bronner, MD.) |
 This image shows PanIN-2 from a patient with hereditary pancreatitis. Note the enlarged nuclei on the surface  compared to the bland nuclei  . (Courtesy M. Bronner, MD.) |
TERMINOLOGY
Abbreviations
Familial pancreatic cancer (FPC)
Familial atypical multiple mole melanoma syndrome (FAMMM)
Hereditary pancreas cancer syndromes (HPCS)
Definitions
FPC is defined as a group of families with 2 or more close relatives with pancreatic cancer, but who do not fulfill criteria of any other cancer syndromes
HPCS are well-defined syndromes that have an increased risk of pancreatic neoplasms
Multiple endocrine neoplasia type 1 (MEN1), von Hippel-Lindau disease, neurofibromatosis type 1, tuberous sclerosis, hereditary breast and ovarian, FAMMM, Peutz-Jeghers, and hereditary pancreatitis are all HPCS
EPIDEMIOLOGY
Prevalence
Up to 10% of pancreatic carcinomas have a familial component
Known genetic syndromes account for < 20% of this group
Most causes of FPC are still unknown
Mutations in ATM and PALLD genes have been identified in small kindreds of FPC patients
The more family members affected, the higher the relative risk of pancreatic cancer to individuals within that family
Cigarette smoking is a synergistic environmental cofactor
