Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation

Robert A. Moran, Robert Klapheke, Niloofar Y. Jalaly, Martin A Makary, Kenzo Hirose, Michael S Goggins, Laura Delong Wood, Daniel Laheru, Anne Marie O'Broin-Lennon, Mouen Khashab, Vikesh Singh

Research output: Contribution to journalArticle

Abstract

Contrary to patients with a cationic trypsinogen gene (PRSS1) mutations, Serine protease inhibitor Kazal-type 1 (SPINK1) heterozygote gene mutation carriers have a very low penetrance for acute, acute recurrent and/or chronic pancreatitis. Despite this, heterozygote SPINK 1 gene mutation patients have a similar age of onset of pancreatitis as PRSS 1 gene mutation patients. While the substantially elevated risk of pancreatic cancer in patients with PRSS1 gene mutations with chronic pancreatitis has been well established, little is known about the risk of pancreatic cancer in SPINK 1 gene mutation carriers with pancreatitis. We describe a case of malignant pancreatic cancer diagnosed in a young patient with chronic pancreatitis who is a SPINK 1 heterozygote gene mutation carrier. The risk of pancreatic cancer in gene mutation patients with chronic pancreatitis, in addition to screening options and management options for these patients is discussed.

Original languageEnglish (US)
Pages (from-to)869-872
Number of pages4
JournalPancreatology
Volume16
Issue number5
DOIs
StatePublished - Sep 1 2016

Keywords

  • Chronic pancreatitis
  • Pancreatic adenocarcinoma
  • SPINK1

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Endocrinology

Fingerprint Dive into the research topics of 'Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation'. Together they form a unique fingerprint.

  • Cite this