Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?

J Gastrointest Cancer. 2023 Mar;54(1):268-269. doi: 10.1007/s12029-021-00729-4. Epub 2021 Nov 22.

Abstract

It is thought that many of the idiopathic pancreatitis could have a genetic base. Approximately 50% of them correspond to CFTR (cystic fibrosis transmembrane conductance regulator gene) and SPINK-1 (serine protease inhibitor Kazal type 1) mutations. A recent study compares patients with acute pancreatitis and SPINK-1 mutation with patients with idiopathic acute pancreatitis. The study highlights a 12-fold increased risk of developing pancreatic cancer with SPINK-1 mutation versus the control group. Nonetheless, authors conclude that only specific pN34s mutation is related to pancreatic cancer. This relation is controversial, and international consensus guidelines for the follow-up in chronic pancreatitis with pancreatic cancer still do not recommend follow-up in SPINK-1 p. N34S mutation. We believe that developing prospective studies in which subgroups of patients with SPINK-1 mutation benefit from closer follow-ups would be necessary.

MeSH terms

  • Acute Disease
  • Carrier Proteins / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Pancreatic Neoplasms / genetics
  • Pancreatitis* / genetics
  • Prospective Studies
  • Trypsin Inhibitor, Kazal Pancreatic* / genetics

Substances

  • Carrier Proteins
  • Trypsin Inhibitor, Kazal Pancreatic
  • SPINK1 protein, human

Supplementary concepts

  • Hereditary pancreatitis