title: Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation.
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.
authors.affiliation: Pancreatitis Center, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: rmoran13@jhmi.edu.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Moran
authors.affiliation: Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Klapheke
authors.affiliation: Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Niloofar Y
authors.initials: NY
authors.lastname: Jalaly
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Martin A
authors.initials: MA
authors.lastname: Makary
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Kenzo
authors.initials: K
authors.lastname: Hirose
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Goggins
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Wood
authors.affiliation: Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Laheru
authors.affiliation: Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Lennon
authors.affiliation: Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Mouen A
authors.initials: MA
authors.lastname: Khashab
authors.affiliation: Pancreatitis Center, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Vikesh K
authors.initials: VK
authors.lastname: Singh
mesh_terms: D000230:Adenocarcinoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D012306:Risk; D014057:Tomography, X-Ray Computed; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic
keywords: Chronic pancreatitis; Pancreatic adenocarcinoma; SPINK1